HEADACHE

Differential Diagnosis of Headache

Migraines: hemiplegic migraine (i.e. migraine with motor aura),
F patient presents with several episodes of throbbing left temporal pain that last for 2 to 3 hours. Before
onset, she sees flashes of light in her right visual field and feels weakness and numbness on the right side of
her body for a few minutes. Her headaches are often associated with nausea and vomiting and she feels
bothered by light. She has a family history of migraine.
Primary Cluster headache,
headache M patient presents with severe right temporal headaches associated with ipsilateral rhinorrhea, eye
syndromes tearing, and redness. Episodes have occurred at the same time every night for the past week and last for
45 minutes.
Tension headache
F patient presents with recurrent episodes of bilateral squeezing headaches that occur 3 to 4 times a week,
typically toward the end of her workday. She is experiencing significant stress in her life and recently
decreased her intake of caffeine. Neurological examination is normal.
subarachnoid hemorrhage,
M patient presents with sudden severe headache, vomiting confusion, left
hemiplegia, and nuchal rigidity.
subdural hematoma,
epidural hematoma,
intraparenchymal hemorrhage,
temporal arteritis,
F presents with a new-onset severe, intermittent right temporal headache, fever,
Vascular
blurred vision in her right eye, weight loss, and pain in her jaw when chewing. She
has a history of shoulder stiffuess. On examination she has right temporal
tenderness to palpation and reduced right eye visual acuity.
vasculitis,
TIA,
carotid artery dissection,
vertebral artery dissection,
intracranial venous thrombosis
pseudomotor cerebri,
Obese F patient presents with a daily pulsatile headache, vomiting, and blurred
vision for the past 2 to 3 weeks. She is taking OCPs.
trigeminal neuralgia
Secondary
M patient c/o daily pain in the right cheek for the past month. The pain is electric
causes of
and stabbing in character and occurs while he is shaving. Each episode lasts 1 to 2
headache
Other causes minutes.
(“VOMIT”)
malignant HTN,
hypertensive encephalopathy,
postlumbar puncture,
pheochromocytoma,
seizures (partial, focal "occipito-parietal"),
temporomandibular joint (TMJ) disorder
nitrates,
Medication/drug
alcohol or Caffeine withdrawal,
related
chronic analgesic use/abuse
meningitis,
M army recruit presents with high fever, severe headache, confusion, photophobia,
and nuchal rigidity.
encephalitis,
cerebral abscess,
Infection
sinusitis (acute vs chronic),
F patient presents with 1 week of frontal headache, fever, and nasal discharge, the
headache worsens when she bends forward. There is pain on palpation of the frontal
and maxillary sinuses. She has a history of allergies.
herpes zoster
Tumor Intracranial neoplasm

1
 Primary Headache Syndromes
Migraine Cluster Tension
Sex
Female > male Male > female Female > male
predilection
Family
Often present No No
history
Onset Variable During sleep Under stress
Band-like pattern around
Location Often unilateral Behind one eye
the head (bilateral)
Excruciating, sharp &
Character Pulsatile & throbbing Dull, tight & persistent
steady
Duration 4-72 hours 15-90 minutes 30 minutes to 7 days

Sweating, facial
Associated flushing, nasal Muscle tenderness in the
Auras, photophobia, phonophobia & nausea
symptoms congestion, lacrimation head, neck or shoulders
& pupillary changes

Acute attacks
 NSAIDs or acetaminophen
 Dihydroergotamine (DHE) —5-HT1
receptor agonist
o Contraindications—CAD,
pregnancy, TIAs, PAD, sepsis
 Sumatriptan—a more selective 5-HT1 Attempt to find the
receptor agonist
o Contraindications—CAD, Acute attacks causal factor(s).
pregnancy, uncontrolled HTN,  Inhalation of 100%  Evaluate the patient for
basilar artery migraine, hemiplegic oxygen &/or possible depression or
Treatment migraine, use of MAOI, SSRI, or  Sumatriptan anxiety. Stress
lithium reduction is important
Prophylaxis
Prophylaxis NSAIDs,
 Verapamil
 First-line agents include acetaminophen, and
o TCAs (amitriptyline) and aspirin
o Propranolol (β-blocker).
 Second-line agents include
o Verapamil (CCB),
o Valproic acid (anticonvulsant), and
o Methysergide

2
Key History
HEADACHE
LIQ ORAAA
Location
 Would you show me exactly where you feel the headache?
 What brings the headache on?
Intensity
 Is it constant or does it come & go?
 On a scale of 1-10, with 10 being the worst pain you have ever felt, how would you rate your pain?
Quality
 What is the headache like?
 Would you describe it for me?
 What is the character of the headache? For e.g. is it sharp, dull, pulsating, pounding, or pressure like?
 Do you have headache at certain time of the day? / does it disturb sleep?
 Do your headache wake you up at night?
Onset/Duration
 When did your headache start?
 How long does it last?
 How often do you get them?
Radiation

Associated Sympt.
 Tell me what happens before/during/after your headache?
 Do you notice any change in your vision before/during or after the headache?
 Do you notice any numbness or weakness before/during or after the headache?
 Do you feel nauseated? Do you vomit?
 Do you notice any fever or stiff neck with your headache?
Aggregating (e.g. stress, fatigue, menses, exercise, certain foods, alcohol)
 Does anything make the headache worse?
Alleviating (e.g. rest, medications)
 Does anything make the headache better?
 Have you had similar headache before?
Family History
 Does anyone of your family has similar headache?
History of trauma
 Have you ever had your head injured?

Key Physical Exam

 Vital signs;
 HEENT: inspection and palpation of entire head and neck;
 Complete neurologic exam (including funduscopic exam) and
 Examination for meningeal signs for an acute headache.

3
Workup

 MRI-brain
 CT-head
 CT -head without contrast for subarachnoid hemorrhage
 CT -angiography
 Digital subtraction angiography (DSA)
 CBC
 ESR/ CRP for temporal arteritis
 Temporal artery biopsy for temporal arteritis
 Doppler U/S-carotid for Carotid artery dissection
 XR-sinus/ CT-sinus for acute sinusitis
 Electrolytes
 LP-CSF analysis
 LP-opening pressure and CSF analysis for pseudomotor cerebri
 PT/PTT/INR for intracranial venous thrombosis
 LP-CSF analysis (cell count, protein, glucose, Gram stain, PCR for specific pathogens, culture) for meningitis
 Blood culture for meningitis
 Urine hCG for pseudomotor cerebri
 Dilated fundoscopy examination for pseudomotor cerebri
 Visual field testing for pseudomotor cerebri

4
 CONFUSION/MEMORY LOSS
Causes of Dementia
Potentially Reversible Causes of Dementia Irreversible Causes of Dementia
• Hypothyroidism • Alzheimer disease
• Neurosyphilis • Parkinson, Huntington
• Vitamin B12/folate deficiency/thiamine deficiency • Multi-infarct dementia
• Medications • Dementia with Lewy bodies, Pick disease
• Normal pressure hydrocephalus • Unresectable brain mass
• Depression • HIV dementia
• Subdural hematoma • Korsakoff syndrome
• Progressive multifocal leukoencephalopathy
• Creutzfeldt–Jakob disease

DIFFERENTIAL DIAGNOSIS OF DEMENTIA SUBTYPES

ALZHEIMER DISEASE
VASCULAR DEMENTIA
FRONTOTEMPORAL DEMENTIA
LEWY BODY DEMENTIA
NORMAL PRESSURE
HYDROCEPHALUS
PRION DISEASE
• Early, insidious short-term memory loss
• Language deficits & spatial disorientation
• Later personality changes
• Stepwise decline
• Early executive dysfunction
• Cerebral infarction &/or deep white matter changes on neuroimaging
• Early personality changes
• Apathy, disinhibition & compulsive behavior
• Frontotemporal atrophy on neuroimaging
• Visual hallucinations
• Spontaneous parkinsonism
• Fluctuating cognition
• Ataxia early in disease
• Urinary incontinence
• Dilated ventricles on neuroimaging
• Behavioral changes
• Rapidly progressive
• Myoclonus &/or seizures

5
 Clinical features of Alzheimer's disease
• Anterograde memory loss (immediate recall affected, distant memories preserved)
Early • Visuospatial deficits (e.g. lost in own neighborhood)
findings • Language difficulties (e.g. difficulty finding words)
• Cognitive impairment with progressive decline
• Neuropsychiatric (e.g. hallucinations, wandering)
• Dyspraxia (e.g. difficulty performing learned motor tasks)
Late
• Lack of insight regarding deficits
findings
• Noncognitive neurologic deficits (e.g. pyramidal & extrapyramidal motor, myoclonus, seizures)
• Urinary incontinence

Diagnostic features of Lewy body dementia

Central (required) • Progressive cognitive decline, dementia
• Fluctuating cognition
Core • Visual hallucinations (detailed, recurrent)
• Spontaneous parkinsonism features
• REM sleep disorder (e.g. vivid dreams)
Suggestive • Severe neuroleptic sensitivity
• SPECT or PET showing low dopamine transporter uptake in basal ganglia
• Repeated falls
• Syncope or near -syncope
Supportive • Severe autonomic dysfunction
• Hallucinations or delusions
• Depression

Conflicting • Neuroimaging showing cerebrovascular disease

(make LBD less • Parkinsonism appearing first with dementia later
likely) • Other physical or brain condition that explains clinical presentation
LBD = Lewy body dementia; PET = positron emission tomography;
REM = rapid eye movement; SPECT = single-photon emission computed tomography.

Creutzfeldt-Jakob disease
Probable diagnosis:
• Rapidly progressive dementia
• 2 out of 4 clinical features:
o Myoclonus
o Akinetic mutism
o Cerebellar or visual disturbance
o Pyramidal/extrapyramidal dysfunction (hypokinesia)
• Periodic sharp wave complexes on EEG
&/OR
• Positive 14-3-3 CSF assay
Definitive diagnosis includes above features in combination
with
• Brain biopsy findings (gold standard)
OR
• Demonstrated PRNP gene mutations

6
 Subdural hematoma
Pathogenesis Rupture of bridging veins (head trauma)
• Elderly & alcoholics (cerebral atrophy, ↑ fall risk)
Risk factors • Infants (thin-walled vessels)
• Anticoagulant use
• Acute: Gradual onset 1-2 days after injury
o Impaired consciousness (eg, coma), confusion
Clinical o Headache, nausea, & vomiting ( ↑ intracranial pressure)
features • Chronic: Insidious onset weeks after injury
o Headache, somnolence, confusion, lightheadedness
o Focal neurologic deficits
Diagnosis Head CT: Crescent shaped hyperdensity (acute) or hypodensity (chronic) crossing suture lines
• Reverse/discontinue anticoagulants
Treatment
• Surgical evacuation of symptomatic or large bleeds

Parkinson disease (PD)

Physical examination findings that contribute to a clinical diagnosis of PD include:
 A resting 4 to 6 Hz tremor with a "pill rolling" quality
Tremor:  Frequently first manifests in one hand, and may then slowly generalize to involve the other
side of the body and the lower extremities
 Baseline increased resistance to passive movement about a joint which may be uniform
Rigidity:
(lead pipe) or oscillating (cogwheel)
 Difficulty initiating movements, as when starting to walk or rising from a chair
 Narrow-based, shuffling gait with short strides and without arm swing (festinating gait)
Bradykinesia:  Micrographia (small handwriting)
 Hypomimia (decreased facial expression)
 Hypophonia (soft speech)
 Flexed axial posture

Postural  Loss of balance during turning or stopping

instability:  Loss of balance when pushed slightly from a stationary bipedal stance
 Frequent falls

7
 Huntington's disease
Pathogenesis Autosomal dominant neurodegenerative disorder.
Age of onset Patients typically present between 30-50 years with chorea and/or behavioral disturbance.
 Chorea is characterized by sudden, jerky and irregular movements of the extremities (e.g. facial
grimacing, ataxia, dystonia, tongue protrusion, writhing movements of extremities).
Clinical
 Impaired judgment, executive function, awareness and attention occur at an early stage.
features
 Memory impairment is a late finding.
 Depression, irritability and social withdrawal are also common.
 Brain imaging:
Diagnosis o Atrophy of the caudate nucleus is a characteristic feature.
o Enlargement of lateral ventricles.

Wernicke's encephalopathy
Pathogenesis Thiamine (B1) deficiency secondary to long-term alcohol abuse
1. Encephalopathy (altered mental status)
Diagnostic
2. Oculomotor dysfunction (nystagmus and conjugate gaze palsy) and
triad
3. Gait ataxia.

Borderline Personality Disorder

• Pervasive pattern of unstable relationships, self-image & affects & marked impulsivity,
with ≥5 of the following features:
o Frantic efforts to avoid abandonment
o Unstable & intense interpersonal relationships
Diagnosti o Markedly & persistently unstable self-image
c o Impulsivity in ≥2 areas that are potentially self-damaging
criteria o Recurrent suicidal behaviors or threats of self-mutilation (e.g. cutting)
o Affective instability (marked mood reactivity)
o Chronic feelings of emptiness
o Inappropriate & intense anger
o Transient stress-related paranoia or dissociation
• Primary treatment is psychotherapy (several types effective;
best evidence for dialectical behavior therapy)
Treatment • Adjunctive pharmacotherapy to target mood instability & transient psychosis
(second-generation antipsychotics, mood stabilizers)
• Antidepressants if comorbid mood or anxiety disorder

8
 Delirium
 Delirium (waxing and waning alteration in consciousness) is an acute confusional state consistent with reduced or
fluctuating level of consciousness and the inability to sustain attention.
 Advanced age and dementia are also important risk factors.
 A workup for the cause of delirium (review of medication list, blood work, urinalysis, possible imaging) is needed
(Table).
 If an infection is identified, treatment should be initiated as soon as possible.

Causes of delirium
• Dementia
Predisposin • Parkinson's disease
g • Prior stroke
risk factors • Advanced age
• Sensory impairment

• Drugs (e.g. narcotics, sedatives, antihistamines, muscle relaxers, polypharmacy)

• Infections (e.g. pneumonia, urinary tract infection, meningitis)
Precipitating • Electrolyte disturbances (e.g. hyponatremia, hypercalcemia)
factors • Metabolic derangements (e.g. volume depletion, vitamin B12 deficiency, hyperglycemia)
• Systemic illness (e.g. congestive heart failure, hepatic failure, malignancy)
• Central nervous system (e.g. seizure, stroke, head injury, subdural hematoma)

Altered mental status (AMS)

 Altered mental status (AMS) suggests widespread dysfunction of the cerebral cortex and/or reticular activating
system.

Causes of altered mental status

• Prescription drugs (e.g. opioids, lithium,
Drugs/toxin antipsychotics)
s • Drugs of abuse (e.g. ethanol, hallucinogens)
• Drug withdrawal (e.g. ethanol, benzodiazepines)
• Sepsis, systemic infections
Infections
• Meningitis, encephalitis, brain/epidural abscess
• Electrolyte disturbances
• Hypo/hyperglycemia
• Endocrine (e.g. hypo/hyperthyroid, pituitary, adrenal)
Metabolic
• Hypoxemia, hypercarbia
• Nutritional (e.g. thiamine, vitamin B12 deficiency)
• Hepatic or renal failure
• Seizure, head injury
CNS • Hypertensive encephalopathy
• Psychiatric disorders

9
Key History
 Must include history from family members/ caregivers when available.
 Detailed time course of cognitive deficits (acute vs chronic/gradual onset);
 Associated symptoms (constitutional, incontinence, ataxia, hypothyroid symptoms, depression);
 Screen for delirium (waxing/waning level of alertness);
 Falls, medications (and recent medication changes);
 History of stroke or other atherosclerotic vascular disease, syphilis, HIV risk factors, alcohol use, or vitamin B12
deficiency;
 Family history of Alzheimer disease or other neurologic disorders.
Dementia
 Tell me about your day yesterday.
 Do you need any help bathing/getting dressed/feeding yourself?
 Do you need any help going to the toilet?
 Do you need any help transferring from your bed to the chair?
 Do you need any help taking your medications/using the telephone/shopping/preparing food/cleaning your
house/doing laundry/getting from place to place/managing money?
 Do you ever have accidents with your urine or bowel movements?
 Do you ever not make it to the toilet on time?
Key Physical Exam
 Vital signs;
 Complete neurologic exam, including mini-mental status exam and gait;
 General physical exam, including HEENT, heart, lungs, abdomen, and extremities.

Gait disorders
Type of gait Description Associated signs Causes
Dysdiadochokinesia,  Cerebellar degeneration
Ataxic: Dysmetria,  Stroke,
Cerebellar
Staggering wide-based Nystagmus,  Drug/alcohol intoxication
Romberg sign  Vitamin B12 deficiency

Dementia,  Frontal lobe degeneration

Gait apraxia Magnetic (freezing):
Incontinence,  Normal pressure
(frontal gait) Start & turn hesitation hydrocephalus
Frontal lobe signs
Bradykinesia,
Parkinsonia Resting tremor,
Short steps, shuffling  Parkinson disease
n Postural instability,
Decreased arm swing
Foot-drop,
Excessive hip & knee flexion  L5 radiculopathy or
Steppage while walking, Distal sensory loss & weakness  Neuropathy of the common
Slapping quality, peroneal nerve
Falls
Normal sensation, reflexes &
motor strength;  Acute labyrinthitis
Vestibular Unsteady, falling to one side
 Meniere disease
Nausea, vertigo

10
 Standardized Mini-Mental State Examination
(Orientation, Memory, & Concentration)
I. Introduce yourself to the patient:
 "Hi; I am Dr. Murad."
 "How are you doing today?"
II. Instruct the patient:
 "I would like to ask you some questions and give you some problems to solve to test your orientation,
memory, & concentration; will that be O.K.?"
III. Start the test:
 Orientation:
1. "What is your name?"
2. "What is your age?"
3. "Which hand do you normally write with?"
 Time:
4. "What year is this?"
5. "What season of the year is this?"
6. "What is the date today?"
7. "What day of the week is this?"
8. "What month is this?"
 Place:
9. "Can you tell me what country we are in?"
10. "What city we are in?"
11. "What is the name of this building?"
12. "What floor of the building are we on?"
 Persons:
13. "Who am I?"
14. "What is the name of the president of United State of America?"
 Memory:
15. "I am going to name 3 objects; after I have said them, I want you to repeat them back to me
immediately and after 30 seconds?" (Apple, Table, Penny)
16. "Are you married?"
17. "When did you get married?"
18. "What were the 3 objects I asked you to remember?"
 Concentration:
19. "Now, I am going to give you a word and ask you to spell it forward & backward?"
20. "I want you to take 7 away from 100 & tell me what number you get; then keep taking 7 away until I tell
you to stop." (100, 93, 86, 79, 72, 65)
21. "I would like you to repeat a phrase after me?" (No ifs, ands, or buts)
22. Show the patient your pen and ask: "What is this?"
 Commands:
23. "Read the words on this page & do what it says?" (Close your eyes)
24. "Take this paper in your right hand, fold the paper one with hands, & put the paper down on the table"
25. Give the patient your pen and say: "Take this"; "write any complete sentence on that piece of paper for
me?"
26. Show the patient a draw on a paper and say: "here is a drawing; please copy the drawing on the same
piece of paper?"
 Judgment:
27. "What would you do if you saw a fire coming out of a paper basket?"
IV. Thank the patient:
 "Thank you, you did well"

11
Workup
 CBC
 Glucose
 Electrolytes, calcium
 Serum B12
 TSH
 VDRL/RPR
 MRI-brain
 CT-head
 LP-CSF analysis
 LP-opening pressure and CSF analysis for Normal pressure hydrocephalus
 EEG
 Brain biopsy for Creutzfeldt·Jakob disease
 ECG
 Echocardiography
 Doppler U/S-carotid
 Urine toxicology

Dementia
Normal aging
(major cognitive disorder)
 Can provide details about incidents of
 Cannot remember specific instances of forgetfulness
forgetfulness
 Family is more concerned than patient
Memory loss  Patient is concerned about memory loss
 Has notable decline in memory for recent important
 Recent memory for important events &
events & conversations
conversations is intact
Word-finding  Occasional (expressive aphasia)  Frequent, with substitutions
difficulty  No receptive aphasia  Some receptive aphasia

 Maintains independence in ADLs  Becomes dependent on others for ADLs

Independenc  Is able to operate common appliances  Is unable to operate common appliances
e  Maintains interpersonal social skills  Loses interest in social activities
& functioning  Does not get lost in familiar territory  Can get lost for hours in familiar territory while
(may have to pause briefly to reorient) driving or walking

12
 LOSS OF VISION
Differential
 Retinal artery occlusion; patient has a history of atrial fibrillation. There is no eye pain, discharge, redness, or
photophobia.
 Retinal vein occlusion
 Acute angle-closure glaucoma
 Retinal detachment
 Temporal arteritis (giant cell arteritis)
 Optic neuritis (acute vision loss, pain, afferent pupillary defect) most commonly occurs in women age <50 and is
often an initial presentation of multiple sclerosis

Acute angle-Closure Glaucoma (ACG)

Due to sudden narrowing or closure of the anterior chamber angle prevents normal flow of aqueous humor
Pathology
(through the pupil and into the anterior chamber), thereby increasing intraocular pressure.
Epidemiolog More common in women (especially age >40), Asian and Inuit populations ( ‫)شعب االسكيمو‬, and individuals with
y farsightedness.
Rapid onset of severe eye pain
May see halos around lights
Presentation
The affected eye will appear injected and the pupil will be dilated and poorly responsive to light
Tearing and headache with subsequent nausea and vomiting as the intraocular pressure increases
Complication Untreated acute ACG can lead to severe and permanent vision loss within 2-5 hours of symptom onset

Key History
 Acute versus chronic, progression, ability to see light;
 Associated symptoms (eye pain, discharge, itching, tearing, photophobia, redness, headache, weakness, numbness,
floaters, sparks);
 History of cardiac, rheumatic, thrombotic, autoimmune, or neurologic disorders;
 Jaw claudication, medications, trauma.
Key Physical Exam
 Vital signs,
 HEENT, with Funduscopic examination,
 Neurologic, and cardiovascular exams.

13
 Clinical features of multiple sclerosis
• Onset at age 15-50
• Optic neuritis
• Internuclear ophthalmoplegia
• Lhermitte sign:

 Uncomfortable "electrical" sensation that runs through the back and into the limbs.

Features  The sensation can feel like it goes up or down the spine.
suggestin  In many patients, it is elicited by bending the head forward.
g
 It can also be evoked when a practitioner pounds (‫ ) َيد ُُّق‬on the posterior cervical spine while the
multiple
sclerosis neck is flexed; this is caused by involvement of the posterior columns.
• Uhthoff phenomenon (heat sensitivity "i.e. worsening of neurologic symptoms in multiple sclerosis
(MS) when the body gets overheated from hot weather, exercise, fever, or saunas and hot tubs ")
• Fatigue
• Sensory symptoms (numbness & paresthesia)
• Motor symptoms (paraparesis & spasticity)
• Bowel/bladder dysfunction
• Relapsing-remitting (majority)
Disease • Primary progressive
pattern • Secondary progressive
• Progressive relapsing
• T2 MRI lesions disseminated in time & space (periventricular, juxtacortical, infratentorial, or spinal cord)
Diagnosis
• Oligoclonal lgG bands on cerebrospinal fluid analysis

14
 DEPRESSED MOOD
Differential
 Normal bereavement
 Major depressive disorder
 Persistent depressive disorder (dysthymia)
 Cyclothymic disorder
 Bipolar I disorder
 Bipolar II disorder
 Adjustment disorder with depressed mood
 Schizoaffective disorder
 Substance-induced mood disorder
 Depressive disorder not otherwise specified

Differential Diagnosis of Depressed Mood

Adjustment disorder with depressed
Major depressive disorder Normal stress response
mood
 ≥2 weeks
 ≥5 of 9 symptoms:
 Identifiable stressor
Depressed mood &
 Onset within 3 months of stressor
SIGECAPS  Not excessive or out of proportion to
 Marked distress
 Significant functional severity of stressor
 Significant functional impairment
impairment  No significant functional impairment
 Does not meet criteria for another
 No lifetime history of mania
DSM-5 disorder
 Not due to drugs or
medical condition

SIGEMCAPS = Sleep disturbance; loss of Interest (anhedonia); excessive Guilt; low Energy; low Mood;
impaired Concentration; Appetite disturbance; Psychomotor agitation/retardation; and Suicidal ideation.

Major Depressive Episode Grief Reaction (Bereavement)

 Five of the following 9 symptoms:  Normal reaction to loss
SIGEMCAPS  Feelings of loss & emptiness

 Low mood or anhedonia must be present  Symptoms revolve around the deceased (‫)المفقود‬

 May occur in response to a variety of stressors,  Functional decline less severe

including loss of loved one  "Waves" of grief at reminders

 Duration >2 weeks  Worthlessness, self-loathing (‫)كره الذات‬, guilt &
 Social & occupational dysfunction suicidality less common

 Suicidality related to hopelessness & worthlessness  Sad feelings are more specific to deceased
 Thoughts of dying involve joining the deceased
 Intensity decreases over time (weeks to months)

15
 Bipolar & Related Disorders
Manic episode Hypomanic episode
• Symptoms more severe • Symptoms less severe
• 1 week unless hospitalized • ≥4 consecutive days
• Unequivocal, observable change in functioning from
• Marked impairment in social or occupational patient's baseline
functioning or hospitalization necessary • Symptoms not severe enough to cause marked impairment
or necessitate hospitalization
• May have psychotic features; makes episode
• No psychotic features
manic by definition
 The diagnosis of hypomanic and manic episodes requires elevated/irritable mood and increased energy plus 3 of the
following symptoms (or 4 if mood is irritable).
 These can be remembered with the mnemonic DIGFAST:
• D - Distractibility
• l - Impulsivity (high-risk behaviors [e.g. spending, sexual])
• G - Grandiosity
• F - Flight of ideas/racing thoughts
• A - Activity (increased goal-directed activity/psychomotor agitation)
• S- Sleep (decreased need)
• T - Talkativeness/pressured speech
Bipolar I
• Manic episode(s)
• Depressive episodes common, but not required for diagnosis

Bipolar II
• Hypomanic episode(s)
• >1 major depressive episodes required

Cyclothymic disorder
• At least 2 years of fluctuating, mild hypomanic & depressive symptoms that do not meet criteria for hypomanic
episodes or major depressive episodes

Persistent Depressive Disorder (Dysthymia)

• Chronic depressed mood ≥2 years (1 year in children/adolescents)
• No symptom-free period for >2 months
• Presence of at least 2 of the following:
o Poor appetite or overeating
DSM-5 o Insomnia or hypersomnia
o Low energy or fatigue
o Low self-esteem
o Poor concentration or difficulty making decisions
o Feelings of hopelessness
• With pure dysthymic syndrome:
Criteria for major depressive episode never met
Specifier
• With intermittent major depressive episodes
s
• With persistent major depressive episodes:
Criteria for major depressive episode met throughout previous 2 years

16
17
 Schizoaffective Disorder
• Major depressive or manic episode concurrent with symptoms of schizophrenia
• Lifetime history of delusions or hallucinations for ≥2 weeks in the absence
DSM-5 of
criteria major depressive or manic episode
• Mood symptoms are present for majority of illness
• Not due to substances or another medical condition

• Major depressive or bipolar disorder with psychotic features:

Differentia
Psychotic symptoms occur exclusively during mood episodes
l
diagnosis • Schizophrenia:
Mood symptoms present for relatively brief periods

Postpartum Blues, Depression & Psychosis

Postpartum Postpartum Postpartum
blues depression psychosis
Prevalence 40%-80% 8%-15% 0.1%-0.2%
2-3 days (resolves
Onset Within 4 weeks Variable: Days to weeks
within 14 days)
Moderate to severe depression, sleep or
Mild depression, Delusions, hallucinations,
appetite disturbance, low energy, psychomotor
Symptoms tearfulness, thought disorganization,
changes, guilt, concentration difficulty, suicidal
irritability bizarre behavior
ideation
Antipsychotics,
antidepressants, mood
Managemen Reassurance & Antidepressants, stabilizers
t monitoring psychotherapy Hospitalization; do not leave
mother alone with infant (risk
of infanticide)

Premenstrual syndrome (PMS)

Characteristic timing
Clinical features
Premenstrual dysphoric
disorder (PMDD)
 Symptoms usually begin a week prior to menses and resolve within a few days after
menses start.
 Patients are symptom free during the follicular phase
 The most common physical manifestations of PMS are bloating, fatigue, headaches,
and breast tenderness.
 Psychological symptoms may include mood swings, anxiety, difficulty concentrating,
decreased libido, and irritability.
Is a severe variant of PMS, with prominent irritability, hopelessness, depressed
mood, self-critical thoughts, anger, and greater psychosocial impairment

18
Key History
 Onset, duration;
 Somatic symptoms (fatigue, headache, abdominal distress);
 Drug and alcohol use;
 Life stresses
 SIGEMCAPS
o Sleep patterns
o Decreased interest, lack of pleasure (anhedonia),
o Excessive guilt
o Decreased energy
o Low mood
o Decreased concentration
o Appetite and weight change
o Psychomotor agitation or retardation
o Suicidality, social function and environment
 Family history of mood disorders; prior episodes; medications

S Sleeping Do you have problems sleeping?

I Interest Have you lost interest in things that used to interest you?
G Guilty Do you feel guilty?
E Energy Do you lack your usual energy?
M Mood Has your mood changed lately?
C Concentrate Has it been difficult for you to concentrate?
Has your appetite changed lately?
A Appetite
Has your weight changed recently?
P Psychomotor disturbances Have you felt either especially agitated or sluggish?
Do you feel as though you want to hurt yourself or someone else or commit
S Suicide suicide?
Do you have a plan to end your life? Would you mind telling me about it?
Do you still perform your daily functions or activities?
Social function and
Do you have any problems in your job?
environment
How is your performance on your job?

Add to that:
 Has anyone in your family ever experienced depression?
 Has anyone in your family ever been diagnosed with a mental illness?
 Do you have any friends or family members you can talk to for support?
 Would you like to meet with a counselor to help you with your problem?
 Would you like to join a support group?

Workup
 CBC  TSH
 Beck Depression Inventory
 PHQ—9 [Patient Health Questionnaire-9]
 QIDS-SR16 [Quick Inventory of Depressive Symptomatology (Self Report)]
 Mood Disorder Questionnaire
 Blood alcohol level  Urine toxicology

19
 PSYCHOSIS
Differential
Differential Diagnosis of DSM-5 Psychotic Disorders
Brief psychotic
>1 day & <1 month, sudden onset, full return to function
disorder
Schizophrenifor
m >1 month & <6 months, same symptoms as schizophrenia, functional decline not required
disorder
At least 6 months (includes at least 1 month of active symptoms, can include prodromal & residual periods),
Schizophrenia
requires functional decline
Schizoaffective Concurrent mood episode, active-phase symptoms of schizophrenia + at least 2 week lifetime history of
disorder delusions or hallucinations in the absence of prominent mood symptoms

Delusional One or more delusions >1 month, no other psychotic symptoms, normal functioning apart from direct
disorder impact of delusions

 These symptoms include the presence of ≥2 of the following:

o Active symptoms:
Delusions,
Hallucinations,
Disorganized speech (frequent derailment, incoherence),
Grossly disorganized or catatonic behavior, or
o Negative symptoms
Affective flattening,
Asociality,
Alogia.

Delusional Disorder
Definition • ≥1 non- bizarre delusions for ≥1 months
• Other psychotic symptoms absent or not prominent
• Ability to function apart from delusion; behavior not obviously bizarre or odd
1. Persecutory type (the most common type): Delusions of being poisoned, harassed, or spied on.
2. Erotomanic (false belief that someone of higher status is in love with them),
Subtypes 3. Grandiose (great talent, insights, or achievements),
4. Jealous (unfaithful partners), and
5. Somatic (bodily functions and sensations)

Other differentials of psychosis:

 Schizoid Personality Disorders
o Prefers to be a loner, detached, unemotional
 Schizotypal Personality Disorders
o Eccentric; odd thoughts, perceptions & behavior
 Psychotic disorder due to a general medical condition
 Substance-induced psychosis (e.g. glucocorticoid-induced psychosis)
 Depression with psychotic features

20
N.B.
 The diagnosis of schizoaffective disorder requires delusions or hallucinations for ≥2 weeks in the absence of a major mood
episode (depressive or manic).
 Differentiating schizoaffective disorder from bipolar disorder, major depression with psychotic features, and schizophrenia
requires determining the temporal relationship of psychotic symptoms to mood symptoms.
o In bipolar disorder and major depression with psychotic features, psychotic symptoms occur exclusively during manic or
depressive episodes.
 When the patient's mood is stable, there are no psychotic symptoms.
o In schizophrenia, if mood symptoms occur, they are present for a small portion of the illness.

Key History
Positive symptoms Delusions, hallucinations, disorganized thoughts, disorganized or catatonic behavior
Negative symptoms Blunted affect, social withdrawal, decreased motivation, decreased speech/thought
Cognitive symptoms Disorganized speech or thought patterns, paranoia
Self-reference People watching you, people talking about you, receiving messages from the media
symptoms
Age at first symptoms and/or hospitalization;
Previous psychiatric medications;
Family history;
.Alcohol and substance use

Considerable questions:
 Tell me about yourself and your future goals.
 How long have you been feeling unhappy/sad/anxious/confused?
 Do you have any idea what might be causing this?
 Would you like to share with me what made you feel this way?
 Have you had any recent emotional or financial problems?
 Have you had any recent traumatic event in your family?

 Do you ever see or hear things that others can’t see or hear?
 Do you hold beliefs about yourself or the world that other people would find odd?
 Do you feel as if other people are trying to harm or control you?
 Whom do you live with?
 How do they react to your behavior?

 Have you ever diagnosed with psychiatric (or mental) illness before?
 Have you been on any psychiatric medication in the past?
 Has anyone in your family ever been diagnosed with a mental illness?
 Do you smoke?
 Do you drink alcohol?
 Do you use any recreational drug?

21
During the interview, describe your observations and impressions of the patient
I. General Description
1. Appearance: grooming (poor), poise, clothes (odd, poorly fitting), body type (disheveled, neat, childlike, etc.)
2. Behavior: quantitative and qualitative aspects of the patient’s motor behavior (restless, tics, etc.)
3. Attitude toward the examiner: (cooperative, frank, and seductive)

II. Mood and Affect

1. Mood: emotions perceived by the patient (depressed, anxious, angry, etc.)
2. Affect: patient’s present emotional responsiveness (blunted, flat, labile, etc.)
3. Appropriateness: in reference to the context of the subject (appropriate or inappropriate)

III. Speech: physical characteristics of speech (relevant, coherent, fluent, etc.)

IV. Perceptual disturbances:

1. Hallucinations: false sensory perceptions without a stimulus:
Auditory (psychotic disorders),
Visual (drugs, organic diseases),
Tactile (cocaine intoxication, alcohol withdrawal),
Olfactory (seizures)
2. Illusions: sensory misperception with a stimulus

V. Thought
1. Form of thought: way in which a person thinks (flight of ideas, loose associations, tangentiality,
circumstantiality, etc.)
2. Content of thought: what the person is actually thinking about (delusions, paranoia, and suicidal ideas)

VI. Sensorium and Cognition

1. Alertness and level of consciousness (awake, clouding of consciousness, etc.)
2. Orientation: time, place, and person
3. Memory: recent, remote, recent past, and immediate retention and recall
4. Concentration and attention: serial sevens, ability to spell backwards.
5. Capacity to read and write: Ask patient to read a sentence and perform what it says.
6. Visuospatial ability: copy a figure
7. Abstract thinking: similarities and proverb interpretation
8. Fund of information and knowledge: calculating ability, name past presidents

VII. Impulse Control: Estimated from history or behavior during the interview

VIII. Judgment and Insight: Ability to act appropriately and self-reflect

IX. Reliability: Physician’s impressions of the patient’s ability to accurately assess his situation

Workup
 Mental status exam
 Beck Depression Inventory
 CBC
 TSH
 Electrolytes, BUN/Cr
 AST/ALT
 Urine toxicology

22
 DIZZINESS
Differential
Common causes of vertigo
• Brief episodes triggered by head movement
BPPV
• Dix-Hallpike maneuver causes nystagmus
• Recurrent episodes
Meniere
• Unilateral hearing loss & tinnitus
disease
• Feeling of fullness in the ear
• Acute, single episode that can last days
• Often follows viral syndrome (e.g. upper respiratory tract infection)
Vestibular
• Associated with nausea and vomiting
neuritis
• No hearing loss or tinnitus.
• Abnormal head thrust test
• Viral infection of cochlea and labyrinth
• Associated with nausea and vomiting
Acute Labyrinthitis
• There is hearing loss
• Can last days
• Vertigo associated with headache or other migrainous
phenomenon
Vestibular Migraine
(eg, visual aura)
• Symptoms resolve completely between episodes
Brainstem/ cerebellar • Sudden-onset, persistent vertigo
stroke • Usually other neurologic symptoms
Acoustic Neuroma
• Ataxia, gait unsteadiness, nystagmus, hearing loss, & tinnitus.
(Schwannoma)
Ototoxic Drugs • Aminoglycosides, & loop diuretics
BPPV = benign paroxysmal positional vertigo.
 An abnormal head thrust test can help detect vestibular dysfunction
o The patient is asked to look at a fixed target.
o Rapid head movement away from the target normally causes the eyes to remain fixed on the target.
o However, patients with vestibulopathy are unable to maintain their eyes on the target.
o The eyes move away and then return back to the target with a horizontal saccade.

Key History
 Clarify the dizziness,
o Lightheadedness versus vertigo (sensation of movement),
o ± Auditory symptoms (hearing loss, tinnitus),
o Onset, duration of episodes,
o Context (occurs with positioning, following head trauma),
o Intensity (confined to bed),
o Aggravating factors (head movement, standing);
 Other associated symptoms (visual disturbance, URI, ear pain or discharge, nausea, palpitations, chest pain, loss of
consciousness, falls);
 Neck pain or injury;
 Medications;
 History of atherosclerotic vascular disease.

23
Considerable questions:
 Do you ever feel dizzy?
 Tell me exactly what you mean by dizziness?
 Did you feel the room is spinning around you? Or did you feel lightheaded as if you were going to pass out?
 Did you black out or lose consciousness?
 Did you notice any change in your hearing?
 Do your ears ring?
 Do you feel nauseated? Do you vomit?
 What causes this dizziness to happen?
 What makes you feel better?

Key Physical Exam

 Vital signs (including orthostatics);
 Complete neurologic exam, including
o Romberg test,
o Nystagmus,
o Dix Hallpike maneuver,
o Head thrust test
o Extraocular movements,
o Gait,
o Hearing, and Weber and Rinne tests;
 HEENT exam;
 Cardiovascular exam.

Workup
 Orthostatic vital signs
 Dix Hallpike maneuver
 Head thrust test
 CBC
 Urea, electrolytes
 VDRL/RPR (syphilis is a cause of Meniere disease)
 Audiometry
 Electronystagmography
 ECG
 Echocardiography
 CT-head
 MRI/MRA-brain

24
 LOSS OF CONSCIOUSNESS
Differential
Syncope
Likely etiology Clinical clues to diagnosis
Vasovagal or • Triggers Prolonged standing or emotional distress, painful stimuli
neutrally mediated syncope • Prodromal symptoms: Nausea, warmth, diaphoresis
Situational syncope • Triggers: Cough, micturition, defecation
Orthostatic hypotension • Postural changes in heart rate/blood pressure after standing suddenly
Aortic stenosis, HCM,
• Syncope with exertion or during exercise
anomalous coronary arteries
Ventricular arrhythmias • Prior history of CAD, Ml, cardiomyopathy, or ↓ EF
Sick sinus syndrome,
bradyarrhythmias, atrioventricular • Sinus pauses, ↑ PR or ↑ QRS duration
block
Torsades de pointes
• Hypokalemia, hypomagnesemia, medications causing ↑ QT interval
(acquired long QT syndrome)
• FHx of sudden death, ↑ QT interval, syncope with triggers
Congenital long QT syndrome
(exercise, startle, sleeping)

Differentiating Common Causes of Loss of Consciousness

Generalized seizures Vasovagal syncope Cardiogenic syncope
 Fever
 Prolonged standing  Exertion
Triggers  Hypoglycemia
 Physical/emotional stress  Dehydration
 Sleep deprivation
 Presyncope (eg,  Sudden loss of
 +/- preceding aura
lightheadedness, pallor, consciousness without
Clinical  Loss of consciousness &
diaphoresis) prodrome
features tone, tonic-clonic convulsions
 Immediate return to baseline  Immediate return to
 Postictal state
after event baseline after event

Other causes of loss of consciousness

 Stroke
 MI
 Pulmonary embolism
 Convulsive syncope
 Drug-induced orthostatic hypotension (causing syncope)
 Substance abuse/ overdose
 Malingering
 Hypoglycemia
 Malingering

25
Key History
 Presence or absence of preceding symptoms (nausea, diaphoresis, palpitations, pallor, lightheadedness),
 Context (exertional, postural, traumatic, stressful, painful, or claustrophobic experience, dehydration);
 Associated tongue biting or incontinence, tonic-clonic movements, prolonged confusion;
 Dyspnea or pulmonary embolism risk factors;
 History of heart disease, arrhythmia, hypertension, or diabetes;
 Alcohol and drug use;
 Medications and recent changes;
 Family history of sudden death.

Key Physical Exam

 Vital signs, including orthostatic
 Complete neurologic exam;
 Carotid and cardiac exam;
 Lung exam;
 Exam of the lower extremities.

Workup
 Orthostatic vital signs
 CBC
 Electrolytes, glucose
 ECG
 Holter monitoring
 Echocardiography
 EEG
 MRI-brain
 CT-head
 LP-CSF analysis
 V/Q scan
 CTA-chest with IV contrast
 D-dimer
 Urine toxicology

26
 NUMBNESS/WEAKNESS
Differential
M patient presents with slurred speech, right facial drooping and numbness, and right hand
Stroke weakness. Babinski sign is present on the right, he has weakness of the right side of his body, and his
deep tendon reflexes are brisk.
20·minute episode of right-sided arm and face numbness. The symptoms had totally resolved by the
TIA
time the patient got to the emergency department.
Intracranial neoplasm
Seizure with Todd
M patient presents with hemiparesis after a tonic-clonic seizure that resolved within a few hours
paresis
CNS vasculitis
Head injury
Subdural or epidural
hematoma
Hemiplegic migraine
Migraine with sensory
aura
F patient presents with ascending loss of strength and numbness in her lower legs over the past 2
Guillain-Barre syndrome
weeks. She had a recent URI. Examination shows weakness of her lower limbs with reduced reflexes.
F patient presents with weakness, loss of sensation, and tingling in her left leg that started this
morning. She also experienced right eye pain with reduced vision that resolved transiently 3 months
Multiple sclerosis
ago. She reports feeling "electric shocks" down her spine upon flexing her head. Examination reveals
left lower limb weakness and ataxia.
Segmental demyelination/Inflammation of the spinal cord (transverse myelitis) may occur with
multiple sclerosis.
Transverse myelitis It typically presents with the
 Subacute onset of flaccid paralysis (spinal shock) and
 Loss of all types of sensation (eg, pain and proprioception) below the level of spinal injury
F patient presents with occasional double vision and droopy eyelids at night with normalization by
Myasthenia gravis
morning. Her past medical history is significant for hypothyroidism.
• Gradually worsening severe local back pain
• Pain worse in the recumbent position/at night
Spinal cord compression • Early signs: Symmetric lower-extremity weakness, hypoactive/absent deep-tendon reflexes
• Late signs: Bilateral Babinski reflex, decreased rectal sphincter tone, paraparesis/paraplegia
with increased deep-tendon reflexes, sensory loss
F patient with tingling and numbness of her thumb, index finger, and middle finger for the past 5
Carpal tunnel syndrome
months. Her symptoms are constant, have progressively worsened, and are relieved with rest. She
secondary to overuse
works as a secretary.
Overuse injury of
median nerve
Cervical disc disease
Medial epicondylitis ("golfer elbow") manifests as localized tenderness over the medial epicondyle,
Medial epicondylitis
pain with resisted wrist flexion, and pain with passive wrist extension
M patient presents with tingling and numbness in his hands and feet (glove-and-stocking distribution)
Diabetic peripheral
for the past 2 months. He has a history of diabetes mellitus, hypertension, and alcoholism. There is
neuropathy
decreased soft touch, vibratory, and position sense in the feet, reflexes are absent.
Alcoholic peripheral
neuropathy
Peripheral neuropathy
Uremic nephropathy
Hypoglycemia

27

Vitamin B12 deficiency
Hypocalcemia
Hyperventilation
Neurosyphilis
Conversion disorder
Malingering
Hyperventilation
Paraproteinemia/
myeloma
Vitamin B12 deficiency causes degeneration of the dorsal and lateral spinal tracts (subacute combined
degeneration).
It typically presents with impaired vibration/proprioception and spastic muscle weakness
Causes damage the dorsal sensory roots leading to secondary degeneration of the dorsal columns.
Characterized by:
• Sensory ataxia walks with his legs wide apart
• Lancinating pains (‫)أَلَ ٌم را ِمح‬
• Neurogenic urinary incontinence
• Associated with Argyll Robertson pupils
The signs of multiple myeloma can be remembered using the mnemonic CRAB for
Calcium (hypercalcemia),
Renal failure (Proteinuria, Bence Jones protein),
Anemia (&Rouleaux formation of RBCs), and
Bone lesions (lytic)
+
Elevated serum protein: M spike is present on serum protein electrophoresis (SPEP)

Key Features of Somatic Symptom & Related Disorders

Somatic symptom
1. Excessive anxiety & preoccupation with ≥1 unexplained symptoms
disorder
2. Illness anxiety disorder Fear of having a serious illness despite few or no symptoms & consistently negative evaluations
Conversion disorder
Neurologic symptom incompatible with any known neurologic disease; often acute onset
3. (functional neurologic associated with stress
symptom disorder)
4. Factitious disorder Intentional falsification or inducement of symptoms with goal to assume sick role
Falsification or exaggeration of symptoms to obtain external incentives "‫( "دوافع‬secondary gain)
5. Malingering
e.g. avoiding work, receiving financial compensation, evading arrest, obtaining drugs

Key History
 Onset (acute, subacute, chronic, relapsing);
 Distribution (unilateral, bilateral, proximal, distal);
 Duration;
 Progression;
 Pain (especially headache, neck or back pain);
 Constitutional symptoms, other neurologic symptoms;
 History of diabetes, alcoholism, atherosclerotic vascular disease.

Key Physical Exam

 Vital signs;
 Neurologic and musculoskeletal exams;
 Relevant vascular exam

28
Workup
 CBC
 Electrolytes (Calcium), glucose HbA1,
 Fasting lipid panel
 PT/PTT/INR
 ESR
 ANA/ANCA
 Serum B12
 UA "urinalysis"
 TFTs "thyroid function test"
 Urea
 VDRL/RPR
 ECG
 Echocardiography
 Doppler U/S-carotid
 CT-head
 MRI-brain, with DWI/ MRA
 MRI-spine
 EEG
 CPK
 Electromyography
 Nerve conduction studies
 PFTs "pulmonary function test"
 LP-CSF analysis
 Serum and urine protein electrophoresis
 Ice pack test
 Tensilon (edrophonium) test
 Anti-ACh receptor antibodies
 For Myasthenia
 Electromyography
gravis
 Nerve conduction studies
 CXR
 CT-chest

N.B.
Other Cause of weakness:
Antiphospholipid antibody syndrome
Venous or arterial thromboembolic disease
• Deep venous thrombosis
Clinical • Pulmonary embolism
• Ischemic stroke/transient ischemic attack
Adverse pregnancy outcomes
• Unexplained embryonic or fetal loss
• Premature birth due to placental insufficiency or preeclampsia
• Lupus anticoagulant effect: Paradoxical aPTT prolongation not reversed on plasma mixing studies
Laborator
• Presence of specific antiphospholipid antibodies
y
o Anticardiolipin antibody
findings
o Anti-beta2-glycoprotein-1 antibody

29
 FATIGUE AND SLEEPINESS
Differential
 Depression  Chronic fatigue syndrome
 Adjustment disorder  Hypothyroidism
 Posttraumatic stress disorder  Anemia
 Generalized anxiety disorder  Colon cancer
 Psychotic or delusional disorder  Renal failure
 Obstructive sleep apnea  Hypercalcemia
 Narcolepsy  Diabetes
 Shift work sleep disorder  Primary polydipsia
 Sleep apnea  Diabetes insipidus

Adjustment Disorder
 An adjustment disorder involves emotional or behavioral symptoms (e.g. anxiety, depression, fatigue,
disturbance of conduct) developing within 3 months of an identifiable stressor and lasting no longer than 6
months once the stressor ceases.
Criteria
 Symptoms are distressing and impairing but do not meet criteria for another mental disorder.
 Stressors can be single or multiple (e.g. moving away from home, living alone for the first time, academic
stress)
Treatmen Psychotherapy, which focuses on developing coping mechanisms and improving the individual's response to and
t attitude about the stressful situation

Acute stress disorder and posttraumatic stress disorder (PTSD)

Acute stress disorder and posttraumatic stress disorder (PTSD) involve exposure to a severe and life-
threatening traumatic event and characteristic symptoms of intrusive reminders of the trauma (e.g. flashbacks,
Criteria nightmares, memories) and avoidance behavior.
The duration of acute stress disorder is ≥3 days and <1 month;
PTSD symptoms persist ≥1 month.
Adjustment disorders,
Differential
Here, the stressor can be of any severity; and the patient's symptoms are insufficient to meet criteria for the
diagnosis
diagnosis of acute stress or PTSD

Generalized Anxiety Disorder

• Excessive worry, anxiety (multiple issues) ≥6 months
• Difficult to control
• ≥3 of the following symptoms:
o Restlessness/feeling on edge
o Fatigue
DSM-5
o Difficulty concentrating
criteria
o Irritability
o Muscle tension
o Sleep disturbance
• Significant distress or impairment
• Not due to substances, another mental disorder, or medical condition

Treatmen • Cognitive behavioral therapy

t • SSRIs or SNRIs

30
 Sleep Disorders
Normal aging
Decreased total sleep time,
Peak sleepiness earlier in the evening,
Sleep pattern Nocturnal awakenings,
Reduced sleep during early morning hours, and
Daytime napping/reduced daytime sleep latency
Increased sleep latency,
Changes in sleep
Decreased REM latency, and
architecture
decreased slow wave sleep (delta wave)
Difficulty falling asleep and/or maintaining sleep
Presentation
Patients do not feel a significant impairment in activities of daily living or cognition
Improve sleep hygiene measures and
Treatment
Cognitive behavioral therapy are used first line

Delayed Sleep Phase Syndrome

Characterized by sleep-onset insomnia and excessive morning sleepiness
Features Patients with delayed sleep phase syndrome commonly describe themselves as "night owls" and have chronic
problems going to sleep at a societally accepted time (i.e. prior to midnight).
Treatmen Light or behavioral therapy
t

Obstructive Sleep Apnea

 Intermittent obstruction of the air flow (typically at the oropharynx) produces periods of apnea during
Pathophysiolog
sleep.
y
 Each apneic period is usually 20 to 30 seconds long (but may be longer) and results in hypoxia
1. Obesity
2. Structural abnormalities—enlarged tonsils, uvula, soft palate; nasal polyps; hypertrophy of muscles in the
pharynx; deviated septum; deep overbite with small chin
Risk factors
3. Family history
4. Alcohol and sedatives worsen the condition
5. Hypothyroidism
 Snoring
 Daytime sleepiness due to disrupted nocturnal sleep
 Personality changes, decreased intellectual function, decreased libido
Clinical features
 Repeated oxygen desaturation and hypoxemia can lead to systemic and pulmonary HTN as well as
cardiac arrhythmias
 Other features: morning headaches, polycythemia
Diagnosis  Polysomnography (overnight sleep study in a sleep laboratory) confirms the diagnosis
 Behavior modification, (weight loss and exercise, avoiding alcohol and sedatives, and sleeping in a non-
supine position)
Treatment  Positive airway pressure therapy
 Uvulopalatopharyngoplasty
 Tracheostomy

31
 Sleep Disorders (Cont.)
Narcolepsy
• Recurrent lapses into sleep or naps (minimum 3 times per week for 3 months)
DSM-5 • At least 1 of the following:
diagnostic o Cataplexy: Brief loss of muscle tone precipitated by strong emotion (e.g. laughter, excitement)
criteria o Low cerebrospinal fluid levels of hypocretin-1
o Shortened REM sleep latency (normal 90 min.)
Associate
• Hypnagogic (on falling asleep) or hypnopompic (on awakening) hallucinations
d
• Sleep paralysis: occurs during awakening.
features

Nightmare disorder Sleep terror disorder

 Recurrent episodes of awakening from sleep with recall of
highly disturbing and frightening dream content.
 On awakening, the child is fully alert, remembers the
dream, and can usually be consoled
 Occur during rapid eye movement (REM) sleep and are
more frequent in the second half of the night.
 Characterized by incomplete awakenings,
unresponsiveness to comfort, and no recall of dream
content
 The child has amnesia for the episode in the morning
 It is a non-REM arousal disorder and typically occur in the
first third of the night

Key History
 Duration;
 Sleep hygiene, snoring, waking up choking/ gasping, witnessed apnea;
 Overexertion;
 Stress, depression, or other emotional problems;
 Lifestyle changes, shift changes at work;
 Diet, weight changes;
 Constitutional symptoms;
 Changes in appetite;
 Symptoms of thyroid disease;
 History of bleeding or anemia;
 Medications;
 Alcohol, caffeine, and drug use

Key Physical Exam

 Vital signs;
 HEENT exam (conjunctival pallor, oropharynx/palate, lymphadenopathy, thyroid exam);
 Heart, lung, abdominal, neurologic, and extremity (pallor, coolness at distal extremities) exams;
 Consider rectal exam and occult blood testing.

32
Workup

 CBC
 TSH, FT 3, FT 4
 Fasting glucose
 HbA1c
 Electrolytes, BUN/Cr,
 PHQ-9
 Beck Depression Inventory
 Nocturnal pulse oximetry
 Polysomnography
 ECG
 UA
 Urine toxicology
 CBC
 CMP "complete metabolic panel"
 Rectal exam with stool guaiac test
Test for Colon cancer
 Colonoscopy
 Barium enema
 CT -abdomen/pelvis

33
 NIGHT SWEATS
Differential Workup
PPD/QuantiFERON-TB Gold
CBC
Tuberculosis
CXR
Sputum Gram stain, acid-fast stain, and culture
Acute HIV infection HIV antibody /RNA levels
CBC
Lymphoma
CT-chest
Leukemia CBC
Hyperthyroidism TSH, FT4
Pheochromocytoma 24-hour urinary catecholamine
Carcinoid syndrome 5-HIAA

Key History
 Onset, duration, severity (e.g. sweating requiring changing of clothing or sheets), frequency, timing, patterns
(escalating, waxing, waning), precipitants (e.g. food, medications);
 Associated diseases and symptoms (fever, recent URIs, associated cough, hemoptysis, pleuritic chest pain);
 Lymphadenopathy, rash, malaise, weight loss, itching, diarrhea, nausea/vomiting, early satiety, anorexia;
 Presence of significant risk factors (e.g. traveling to or emigrating from areas with endemic infections, IV drug use,
incarceration, working in health care);
 Alcohol history, sexual exposure, sick contacts, exposure to high-risk populations such as prisoners or homeless
people;
 Menstrual history, menopausal status, travel history.

Key Physical Exam

 Vital signs;
 HEENT exam, including inspection of the throat and other areas for lymphadenopathy;
 Heart and lung exam;
 Abdominal exam for hepatosplenomegaly;
 Skin exam;
 Musculoskeletal exam for joint pain.

34
 INSOMNIA
Differential
 Primary insomnia
o Is a diagnosis of exclusion.
o The DSM-5 defines it as dissatisfaction with sleep and one of the following:
Difficulty initiating sleep,
Difficulty maintaining sleep, or
Early-morning awakenings and an inability to fall back asleep
 Stress-induced insomnia
 Caffeine-induced insomnia
 Insomnia with circadian rhythm sleep disorder
 Insomnia related to major depressive disorder
 Obstructive sleep apnea
 Daytime fatigue in primary hypersomnia

Key History
 Primary versus secondary, duration, description (trouble falling asleep vs multiple awakenings vs early-morning
awakening);
 Daytime sleepiness;
 Other medical problems keeping patient awake at night, such as arthritis (pain) or diabetes (polyuria);
 Evidence of a common sleep disorder (e.g. sleep apnea, restless leg syndrome);
 Associated symptoms, including loud snoring, nightmares, & depression;
 Caffeine, alcohol, medication, and recreational drug use;
 Work or lifestyle (jet lag or shift work), stressors, sleep environment and hygiene;
 Presence of psychiatric symptoms (e.g. grandiose delusions, irritability);
 Daytime effects.

Workup
 CBC
 TSH
 ECG
 Polysomnography
 Urine toxicology

35
 SORE THROAT
Differential Workup
CBC with differential and peripheral smear
Infectious mononucleosis Monospot test
Anti-EBV antibodies
Hepatitis AST I ALT /bilirubin/alkaline phosphatase
Viral or bacterial pharyngitis Throat culture
Centor criteria
C = cough Absence of cough Point
E = exudate Tonsillar exudates (ooze) +1
N = node Tender anterior cervical adenopathy +1
Streptococcal Pharyngitis T = temperature History of fever +1
Age under 15 add 1 point +1
OR = young OR old modifier
Age over 44 subtract 1 point -1

Throat swab for culture and rapid streptococcal antigen

Acute HIV infection
Secondary syphilis
Mycoplasma pneumonia
HIV antibody and viral load
CD4count
VDRL/RPR
Serologic test (cold agglutinin titer) for Mycoplasma

Key History
 Duration, fever, other ENT symptoms (ear pain, nasal or sinus congestion), odynophagia, swollen glands, cough,
chest pain, SOB, rash, allergies, sick contacts, HIV risk factors.

Key Physical Exam

 Vital signs;
 HEENT exam, including oral thrush, tonsillar exudate, and lymphadenopathy;
 Lung, abdominal (focusing on splenomegaly), and skin exams.

36
 COUGH/SHORTNESS OF BREATH
Differential Workup
 CBC
 CXR
Asthma
 Peak flow measurement
 PFTs
 CBC
Bronchitis
 CXR
 CBC
Bronchiectasis  Sputum Gram stain and culture
 CXR
 CBC
COPD-chronic bronchitis  Sputum Gram stain and culture
COPD-emphysema  CXR
 PFTs
 CBC
Pneumonia  Sputum Gram stain and culture
 CXR
Pneumocystis jirovecii  Sputum Gram stain, acid-fast stain, silver stain, and culture
 CBC
 Induced sputum Gram stain and culture
Atypical pneumonia  CXR
 IgM detection for Mycoplasma pneumoniae
 Urine Legionella antigen
URI-associated cough
 CXR
("postinfectious")
Postnasal drip  CXR
 CBC
 Sputum Gram stain and culture
Lung abscess
 CXR
 CT-chest
 PPD/QuantiFERON-TB Gold
 CBC
Tuberculosis
 CXR
 Sputum Gram stain, acid-fast stain, and culture
 CBC
Pneumonitis
 CXR
 CBC
 CXR
Interstitial lung disease
 CT-chest
 Bronchoscopy
 CXR
Lung cancer
 CT-chest
 CXR
 ECG
Pulmonary edema
 CBC
 ABG
GERD
 CT-chest
Pericarditis  ECG
 Echocardiography
 Echocardiography
CHF
 BNP
Mitral valve stenosis  Echocardiography

37
Key History
 Acute/ subacute versus chronic, increased frequency of cough if chronic;
 Timing;
 Severity;
 Presence/ description of sputum;
 Presence of hemoptysis;
 Associated symptoms (constitutional, i.e. fever, night sweats, weight loss; URI, postnasal drip, dyspnea, wheezing,
chest pain, & heartburn);
 Exacerbating and alleviating factors, environmental factors, exposures;
 Previous episodes;
 Smoking history;
 History of lung disease, post-tussive emesis, or heart failure;
 Allergies;
 Medications (especially ACE inhibitors).

Considerable questions:
SOB
Onset
 When did it first start?
Time Course
 When do you feel SOB?
Severity
 Do you get SOB when you are climbing stairs?
 How many steps can you climb before you get SOB?
 How far do you walk on level ground before you have SOB?
 Do you wake up at night short of breath?
 Do you have to prop yourself up on pillows to sleep at night? & how many pillows do you use?
Association
 Have you been wheezing?
 Have you notice any swelling of your legs or ankles?
Exacerbating/ relieving factors
 What make it worse?
 What make it better?

Key Physical Exam

 Vital signs± pulse oximetry;
 Exam of nasal mucosa, oropharynx, heart, lungs, lymph nodes, and extremities (clubbing, cyanosis, edema).

38
 CHEST PAIN
Differential Workup
 ECG
 CPK-MB, troponin x 3
 CXR
Myocardial infarction (MI)  CBC
Angina  Electrolytes
 Echocardiography
 Cardiac catheterization
 Exercise stress test (Stable angina)
 ECG
 CPK-MB, troponin x 3
 CXR
Pericarditis
 CBC
 Electrolytes
 Echocardiography
 ECG
 CPK-MB, troponin x 3
 CXR
 CBC, Electrolytes, BUN, Cr
 Helical CT
Aortic dissection
 CTA-chest with IV contrast
 Echocardiography
 TEE "transesophageal echocardiography"
 MRI/MRA-aorta
 Aortic angiography
 ECG
 CXR
 CBC
 Electrolytes
Pulmonary embolism
 Helical CT
 CTA-chest with IV contrast
 Echocardiography
 D-dimer
 Doppler U/S-legs
 CXR
Pneumothorax
 CBC
 CBC
Pneumonia/ Pleurisy  Sputum Gram stain and culture
 CXR
 Barium swallow
 Upper endoscopy
GERD  Esophageal pH monitoring
Esophagitis  H pylori stool antigen
Peptic ulcer disease  ECG
Esophageal spasm  CPK-MB, troponin
 CXR
Esophageal rupture
 Echocardiography
 CBC
 ESR
 ECG
Costochondritis  CXR
Muscle strain  CPK-MB, troponin
 CBC
 CBC with reticulocyte count and peripheral smear
Sickle cell disease-acute chest
 LDH
syndrome
 ABG

39
Key History
 Onset, location, quality, severity, radiation, duration, context (exertional, postprandial, positional, cocaine use,
trauma);
 Associated symptoms (swearing, nausea, dyspnea, palpitations, sense of doom, fever);
 Exacerbating and alleviating factors (especially medications);
 History of similar symptoms;
 Known heart or lung disease or history of diagnostic testing;
 Cardiac risk factors (hypertension, hyperlipidemia, smoking, family history of early Ml);
 Pulmonary embolism risk factors (history of DVT, coagulopathy, malignancy, recent immobilization, pregnancy).

Considerable questions:
PAIN
LIQ ORAAA
Location
 Would you show me exactly where the pain is?
 What brings the pain on?
Intensity
 Is it constant or does it come & go?
 On a scale of 1-10, with 10 being the worst pain you have ever felt, how would you rate your pain?
Quality
 What is the pain like?
 Would you describe it for me?
 What is the character of the pain? For e.g. is it sharp, burning, cramping, or pressure like?
Onset/Duration
 When did the pain start?
 How long does it last?
 How often does it come on?
Radiation
 Does the pain travel anywhere?
Associated Sympt.
 Is it associated with ……….. ?
Aggregating
 Does anything make the pain worse?
Alleviating
 Does anything make the pain better?
 Have you had similar pain before?

Key Physical Exam

 Vital signs ± BP in both arms;
 Complete cardiovascular exam (JVD, PMI, chest wall tenderness to palpation, heart sounds, pulses, edema);
 Lung and abdominal exams;
 Lower extremity exam (inspection for signs of DVT).

40
 PALPITATIONS
Differential Workup
 CBC
 Electrolytes
Cardiac arrhythmia  TSH
 ECG
Angina
 TEE
Mitral valve prolapse  Event monitor
 Holter monitor
 Exercise stress test (Stable angina)
Hypoglycemia  Glucose
 ECG
Hyperthyroidism  Electrolytes
Pheochromocytoma  TSH
Carcinoid syndrome  24-hour urinary catecholamines
 5-HIAA
Hyperventilation episodes
Panic attack
Generalized anxiety disorder  CBC
Social phobia  Electrolytes
Specific phobia  ECG
Agoraphobia/ specific phobia  TSH, FT4
Acute stress disorder
Avoidant personality disorder
Substance abuse (e.g. cocaine, amphetamines)/dependence or
 Urine toxicology
withdrawal (e.g. alcohol, benzodiazepines)

41
 Anxiety Disorders
Differential Diagnosis of DSM-5 Anxiety Disorders
Social anxiety Disorder
Anxiety restricted to social & performance situations, fear of scrutiny & embarrassment
(social phobia)
Panic disorder Recurrent, unexpected panic attacks
Specific phobia Excessive anxiety about a specific object or situation (phobic stimulus)
Generalized anxiety
Chronic multiple worries, anxiety, tension
disorder

Panic Disorder
• Recurrent & unexpected panic attacks with ≥4 of the following:
o Chest pain, palpitations, shortness of breath
o Trembling (‫)إرتجاف‬, sweating, nausea
Clinical
o Dizziness, paresthesias
features
o Derealization, depersonalization
o Fear of losing control, dying
• Worry about additional attacks, avoidance behavior

Treatmen • Immediate: Benzodiazepines

t • Long-term: SSRI/SNRI &/or cognitive-behavioral therapy

Generalized Anxiety Disorder

• Excessive worry, anxiety (multiple issues) ≥6 months
• Difficult to control
• ≥3 of the following symptoms:
o Restlessness/feeling on edge
o Fatigue
DSM-5
o Difficulty concentrating
criteria
o Irritability
o Muscle tension
o Sleep disturbance
• Significant distress or impairment
• Not due to substances, another mental disorder, or medical condition

Treatmen • Cognitive behavioral therapy

t • SSRIs or SNRIs

Social Anxiety Disorder (Social Phobia)

• Marked anxiety about ≥1 social situations for ≥6 months
• Fear of scrutiny (‫ )النظر‬by others, humiliation, embarrassment
Diagnosis • Social situations avoided or endured (‫ )متحمل‬with intense distress
• Marked impairment (social, academic, occupational)
• Subtype specifier: Performance only
• SSRI/SNRI
Treatmen
• Cognitive-behavioral therapy
t
• Beta blocker or benzodiazepine for performance-only subtype

42
 Specific Phobia
• Marked anxiety about a specific object or situation (the phobic stimulus) for ≥6 months
History & • Common types: Flying, heights, animals, injections, blood
clinical • Avoidance behavior (avoiding bridges and elevators, refusing work requiring travel)
features • Common, 10% of population
• Usually develops in childhood; can develop after traumatic event
• Cognitive-behavioral therapy with exposure is treatment of choice
Treatmen
• Short-acting benzodiazepines may help acutely
t
(therapist unavailable, insufficient time) but have a limited role

Acute stress disorder

Acute stress disorder involves exposure to a traumatic event followed by the development of anxiety, hyperarousal, and
dissociative and intrusive symptoms lasting ≥3 days and <1 month

Post-traumatic Stress Disorder

• Exposure to life-threatening trauma
• Nightmares, flashbacks, intrusive memories
Clinical • Avoidance of reminders, amnesia for event
features • Emotional detachment, negative mood, decreased interest in activities
• Sleep disturbance, hypervigilance, irritability
• Duration >1 month

Treatmen • Trauma-focused cognitive-behavioral therapy

t • Antidepressants (SSRIs, SNRIs)

Avoidant personality disorder

Avoidance due to fears of criticism & rejection, inadequacy, & hypersensitivity

Key History
 Onset, gradual versus acute onset/offset, context (exertion, caffeine, energy drinks or supplements, anxiety);
 Duration of episodes;
 Associated symptoms (lightheadedness, loss of consciousness, chest pain, dyspnea, fever, sweating, pale skin,
flushing, diarrhea);
 Hyperthyroid symptoms;
 History of bleeding or anemia;
 History of heart disease, hypertension, or diabetes.

Key Physical Exam

 Vital signs;
 Endocrine/thyroid exam, including exophthalmos, lid retraction, lid lag, gland size, bruit, and tremor;
 Complete cardiovascular exam (JVP, PMI, heart sounds, lower extremities, distal pulses).

43
 WEIGHT LOSS
Differential Workup
Dieting/ diet drugs
 TSH, FT4
Hyperthyroidism
 CBC
Anorexia nervosa  BMP "basic metabolic panel"
Malabsorption  HIV antibody
 Urine toxicology
HIV infection
 Age-appropriate cancer screenings
Cancer

Key History
 Amount, duration, ± intention;
 Diet and exercise history;
 Body image, anxiety or depression;
 Constitutional symptoms (fatigue, malaise, fever, chills);
 Hyperthyroid symptoms (palpitations, tremor, diarrhea);
 Family history of thyroid disease;
 HIV risk factors;
 Tobacco, alcohol, and drug use;
 Medications;
 History of cancer;
 Blood in urine or stool.

Considerable questions: Eating Disorders

Weight
 Have you noticed any change in your weight? Diagnosis Clinical features
 How many pounds did you gain/loss?
• Significantly low weight
 Over what period of time did it happen?
 Was the weight gain/loss intentional? Anorexia • Intense fear of weight gain
Appetite nervosa • Distorted views of body weight & shape
 How is your appetite? • Subtypes: Binge/purge, restricting
 Has there been any change in your appetite?
 Are you getting full too quickly during a meal? • Recurrent episodes of binge eating
• Compensatory behavior (vomiting, exercise) to
Bulimia
Key Physical Exam prevent weight gain
nervosa
 Vital signs; • Excessive worry about body shape & weight
 HEENT, cardiovascular, pulmonary, abdominal, • Maintains normal body weight
musculoskeletal, and skin exam.
Binge-
• Recurrent binge eating with lack of control
eating
• No compensatory behaviors
Disorder

N.B.

Body dysmorphic disorder is characterized by intense

preoccupation with a perceived defect in physical appearance.

It is not diagnosed in an individual preoccupied with weight gain

who meets the criteria for an eating disorder

44
 WEIGHT GAIN
Differential Workup
 CBC
Smoking cessation  BMP "basic metabolic panel",
 Glucose
 CBC
Drug side effect  BMP,
 Glucose
Hypothyroidism  TSH, FT4
 24-hour urine free cortisol
Cushing syndrome
 Dexamethasone suppression test
 Glucose
Diabetes mellitus  HbA1c
 Glucose tolerance test
 Blood glucose
 Plasma insulin after induced hypoglycemia (72 hours fasting)
 C-peptide
Insulinoma  Whipple triad:
o Hypoglycemic symptoms brought on by fasting.
o Blood glucose <50 mg/dL during symptomatic attack.
o Glucose administration brings relief of symptoms.
Reactive postprandial
 Glucose tolerance test
hypoglycemia
 Beck Depression Inventory
Atypical depression  PHQ—9 [Patient Health Questionnaire-9]
 QIDS-SR16 [Quick Inventory of Depressive Symptomatology (Self Report)]
Pregnancy  Urine β-hCG
 Transvaginal U/S
Polycystic ovary syndrome  FSH:LH ratio
 Glucose tolerance test

Key History
 Amount, duration, timing (relation to medication changes, smoking cessation, depression);
 Diet history;
 Hypothyroid symptoms (fatigue, constipation, skin/hair/nail changes);
 Menstrual irregularity, hirsutism;
 Medical history;
 Sexual history;
 Alcohol and drug use.

Key Physical Exam

 Vital signs;
 Complete exam (HEENT, cardiovascular, pulmonary, abdominal, musculoskeletal, and neurologic exams), including
signs of Cushing syndrome (hypertension, central obesity, moon face, buffalo hump, supraclavicular fat pads,
purple abdominal striae);
 Look for edema resulting from water retention in renal disease.

45
 DYSPHAGIA
Differential Workup
 Upper endoscopy
Esophagitis
 HIV antibody and viral load
Esophagitis ( CMV, HSV, HIV, pill-induced)
 CD4count
 Barium swallow
Diffuse esophageal spasm
 Esophageal manometry
 Barium swallow
Esophageal stricture
 Upper endoscopy
 Barium swallow
Zenker diverticulum
 Upper endoscopy
 CBC
 Serum iron, ferritin, TIBC
Plummer-Vinson syndrome
 Barium swallow
 Upper endoscopy
 ANAs
 Antitopoisomerase I (antiscleroderma-70) Ab
Systemic sclerosis  Upper endoscopy
 Barium swallow
 Esophageal manometry
 Barium swallow
Achalasia
 Esophageal manometry
 Barium swallow
 Upper endoscopy
GERD
 Esophageal pH monitoring
 H pylori stool antigen
 CBC
 CXR
Esophageal cancer  Upper endoscopy with biopsy
 Barium swallow
 CT-chest.

Key History
 Solids or liquids versus both solids and liquids, ± progression, occurring at the beginning or middle of swallow;
 Constitutional symptoms (especially weight loss);
 Hoarseness, drooling, regurgitation of liquids versus undigested food, odynaphagia, GERD symptoms;
 Medications;
 HIV risk factors;
 Weakness, focal neurologic symptoms, cognitive decline;
 History of anxiety, smoking, Raynaud phenomenon

Key Physical Exam

 Vital signs;
 HEENT exam;
 Heart, lung, and abdominal exams;
 Skin exam (for signs of systemic sclerosis/CREST "Calcinosis of the digits, Raynaud phenomenon, Esophageal
motility dysfunction, Sclerodactyly of the fingers, & Telangiectases [over the digits and under the nails]").

46
 Esophageal Disorders
Significant Symptoms Underlying Pathology Manometry Results
Smooth muscle atrophy Hypomotility and incompetence of the
Systemic Dysphagia, choking, heartburn, and
and fibrosis in the lower lower esophageal sphincter "i.e. decreased
sclerosis (SSc) hoarseness
esophagus LES pressure"
Diffuse
Chest pain and dysphagia rather Dysfunction of inhibitory Periodic, high-amplitude, non-peristaltic
esophageal
than heartburn neurons contractions
spasm
Heartburn that does not respond to
Eosinophilic Eosinophilic infiltration
standard medications for Esophageal hypercontractility
esophagitis of esophageal mucosa
gastroesophageal reflux disease
Aperistalsis in the distal esophagus (as in
Dysphagia and regurgitation of Loss of intramural
Achalasia SSc) but achalasia causes increased LES
undigested food neurons
pressure and incomplete LES relaxation
Dysphagia, regurgitation, and
aspiration Cell-mediated immune
Polymyositis PLUS activation → chronic Functionally similar to SSc
Symmetric proximal muscle inflammation
weakness

47
 NECK MASS
Differential Workup
 CBC with differential
 BMP
Hodgkin/non-Hodgkin lymphoma
 ESR,CRP
 Lymph node biopsy
 PPD/QuantiFERON-TB Gold
Tuberculosis
 CXR
HIV  HIV antibody/RNA
 TSH
Thyroid nodule  U/S-neck
 Fine needle aspiration
Metastatic GI or head and neck malignancy  Upper endoscopy

Key History
 Onset, progression over rime, size, location, mobility, pain, movement with swallowing;
 Obstructive symptoms (dysphagia, shortness of breath);
 Other masses;
 Associated symptoms (constitutional, hematologic, GI, endocrine, pulmonary);
 Ill contacts;
 Tobacco/alcohol/IV drug use,
 Sexual history.

Key Physical Exam

 Vital signs;
 HEENT exam;
 Exam of lymph nodes, spleen, and tonsils;
 Heart, lung, and abdominal exams, including assessment for splenomegaly.

48
 NAUSEA/VOMITING
Differential Workup
 Urine hCG
Pregnancy  Pelvic exam
 U/S-transvaginal
 CBC
Hypercalcemia
 Electrolytes, calcium, glucose, liver function tests
 CBC
Diabetes mellitus
 Electrolytes, calcium, glucose, liver function tests
 Barium swallow
 Upper endoscopy
Gastritis/GERD
 Esophageal pH monitoring
 H pylori stool antigen
UTI  UA, urine culture
 PHQ—9 [Patient Health Questionnaire-9]
Depression/ eating
 QIDS-SR16 [Quick Inventory of Depressive Symptomatology (Self Report)]
disorder
 Mood Disorder Questionnaire
 Blood alcohol level
Substance use (e.g. alcohol)
 Urine toxicology

Key History
 Acuity of onset, time course of symptoms, ± abdominal pain, relation to meals, sick contacts, food poisoning
symptoms, pregnancy symptoms;
 Neurologic symptoms (headache, stiff neck, vertigo, focal numbness or weakness);
 Urinary symptoms;
 Other associated GI symptoms (heartburn, reflux, diarrhea, constipation, melena, jaundice, abdominal distention,
chest pain, rash, food intolerances);
 Constitutional symptoms (weight loss, night sweats, & fevers);
 Exacerbating and alleviating factors;
 Medications;
 History of prior abdominal surgery;
 Alcohol and drug use;
 History of anxiety, depression, and restrictive eating.

Key Physical Exam

 Vital signs;
 Complete abdominal exam;
 HEENT;
 Consider funduscopic exam (increased intracranial pressure);
 Consider heart and lung exam.

49
 ABDOMINAL PAIN
RUQ abdominal pain Epigastric pain LUQ abdominal pain Flank pain
Differentia Differential Workup
Differential Workup Differential Workup Workup
l
Splenic Nephrolithiasi
Acute cholecystitis Pancreatic cancer
rupture s
Choledocholithiasi Kidney Renal cell
Cholangiocarcinoma  UA, urine
s stone carcinoma
culture
Rib Pyelonephritis
Hepatitis Primary sclerosing cholangitis  CBC and
fracture
 Electrolytes sensitivity
 CXR GI etiology , urine
Ascending
Acute pancreatitis Pneumonia (e.g. cytology
cholangitis  Rectal exam, stool for  CT-abdomen
 U/S-abdomen (if
appendicitis)  BUN/Cr
occult blood  CT-
 CBC Perforated hemodynamicall
Acute gallstone abdomen
Chronic pancreatitis peptic y unstable)
cholangitis  Electrolytes, BUN/Cr  U/S-renal
 CBC ulcer
 Amylase, lipase, lactate,  KUB
 AST/ALT/bilirubin/alkalin
Primary sclerosing AST/ALT/bilirubin/alkalin  IVP
e phosphatase
cholangitis Gallstone cholangitis e phosphatase Splenic  Blood
 U/S-abdomen
Primary biliary  Blood culture infarct culture
 CT-abdomen
cirrhosis (PBC)  U/S-abdomen
 Viral hepatitis serologies
 CXR "standing"
Peptic ulcer  MRCP Cholecystitis/choledocholithiasi
 KUB
disease  ERCP s
 CT-abdomen
Firz-Hugh-Curtis  UA
Acute viral hepatitis  Upper endoscopy
syndrome  Anti-mitochondrial
 Upper endoscopy
antibodies (for PBC)
Acute subhepatic (including H pylori
Acute alcoholic hepatitis testing)
appendicitis
 Upper GI series
Acute
Abdominal aortic aneurysm  ECG
glomerulonephritis
Peptic ulcer disease
Perforated peptic ulcer
Gastritis
GERD
Mesenteric ischemia
Boerhaave syndrome

50
 ABDOMINAL PAIN (Cont.)
Peri-umbilical pain RLQ pain LLQ pain Supra-pubic pain
Differential Workup Differential Workup Differential Workup Differential Workup
Pelvic
Intestinal obstruction Appendicitis Diverticulitis inflammatory
disease
Small bowel or colon  Pelvic
Ovarian torsion Crohn disease Endometriosis exam
cancer
 Pelvic exam  Rectal exam  Urine hCG
Ulcerative  Cervical
Volvulus Nephrolithiasis  Urine hCG colitis  CBC Dysmenorrhea
  Doppler U/S- cultures
Rectal exam  Electrolytes
Gastroenteritis  Ectopic pregnancy Gastroenteritis Vaginitis  CBC
CBC pelvis/transvaginal  CXR
  Rectal exam  ESR
Electrolytes Ruptured ovarian  AXR
Food poisoning
  UA Abscess Cystitis  UA, urine
Stool for occult blood cyst  CT-
 Stool for ova and  CBC culture
Pelvic inflammatory abdomen Spontaneous
 Blood culture  U/S-pelvis
Ileus parasitology, Entamoeba disease  Blood abortion
histolytica antigen  AXR culture
Hernia  AXR Bowel infarction or  CT-abdomen Pyelonephritis
 CT -abdomen/ pelvis with perforation  Laparoscopy
Mesenteric contrast  Chlamydia and gonorrhea
 Colonoscopy Gastroenteritis testing, VDRL/RPR
ischemia/infarction
 Mesenteric angiography
Irritable bowel syndrome Crohn disease
 Barium enema
Crohn disease  Urine hCG Volvulus or other
intestinal obstruction
Celiac disease
Chronic pancreatitis
GI parasitic infection
(amebiasis, giardiasis)
Endometriosis

51
 ABDOMINAL PAIN (Cont.)

Acute Abdominal/Pelvic Pain in Women

Diagnosis Clinical presentation Ultrasound findings
• Recurrent mild & unilateral mid-cycle pain prior
Mittelschmerz to ovulation Not indicated
• Pain lasts hours to days
Ectopic • Amenorrhea, abdominal/pelvic pain & vaginal bleeding
No intrauterine pregnancy
pregnancy • Positive hCG
• Sudden-onset severe unilateral lower abdominal pain,
Ovarian
nausea & vomiting Enlarged ovary with decreased blood flow
torsion
• Unilateral, tender adnexal mass on examination
Ruptured • Sudden-onset severe unilateral lower abdominal pain
Free fluid near ovarian cyst
ovarian cyst immediately following strenuous or sexual activity
Pelvic
• Fever/chills, vaginal discharge, lower abdominal pain
inflammatory +/- Tubo-ovarian abscess
& cervical motion tenderness
disease

52
Key History
 Location, quality, intensity, duration, radiation, timing (relation to meals or menstruation);
 Associated symptoms (constitutional, GI, cardiac, pulmonary, renal, pelvic);
 Exacerbating and alleviating factors;
 History of similar symptoms;
 History of abdominal surgeries, trauma, gallstones, renal stones, atherosclerotic vascular disease;
 Medications (e.g. NSAIDs, corticosteroids);
 Alcohol and drug use;
 Domestic violence, stress/anxiety, sexual history, pregnancy history.

Considerable questions:
PAIN
LIQ ORAAA
Location
 Would you show me exactly where the pain is?
 What brings the pain on?
Intensity
 Is it constant or does it come & go?
 On a scale of 1-10, with 10 being the worst pain you have ever felt, how would you rate your pain?
Quality
 What is the pain like?
 Would you describe it for me?
 What is the character of the pain? For e.g. is it sharp, burning, cramping, or pressure like?
Onset/Duration
 When did the pain start?
 How long does it last?
 How often does it come on?
Radiation
 Does the pain travel anywhere?
Associated Sympt.
 Is it associated with ……….. ?
Aggregating
 Does anything make the pain worse?
Alleviating
 Does anything make the pain better?
 Have you had similar pain before?

Key Physical Exam

 Vital signs;
 Heart and lung exams;
 Abdominal exam, including tenderness, guarding, rebound, Murphy sign, psoas and obturator signs, and CVA
percussion;
 Bowel sounds, aortic bruits;
 Rectal exam;
 Pelvic exam (women).

53
 Common GI Diseases
Diffuse esophageal spasm
Pathophysiolog
• Uncoordinated, simultaneous contractions of esophageal body
y
• Intermittent chest pain
Symptoms
• Dysphagia for solids & liquids
• Esophagram: "Corkscrew" pattern
Diagnosis • Manometry: Intermittent peristalsis, multiple simultaneous
contractions
• Calcium channel blockers
Treatment
• Alternate: Nitrates, tricyclics

Clinical features of esophageal perforation

 Spontaneous rupture (Boerhaave syndrome)
 Instrumentation (e.g. endoscopy)
Etiology
 Esophagitis (infectious/pills/caustic)
 Esophageal ulcer

Clinical  Chest & abdominal pain, systemic findings (e.g. fever)

 Subcutaneous emphysema in the neck
presentation
 Hamman sign (crunching sound on chest auscultation)
 CXR or CT scan: Wide mediastinum, pneumomediastinum, pneumothorax, air around paraspinal
muscles, pleural effusion (late)
Diagnosis
 CT scan: Esophageal wall thickening, mediastinal air fluid level
 Water-soluble contrast esophagogram: Leak at perforation site
Managemen  Antibiotics & supportive care for all patients
t  Surgical repair for significant leakage with systemic Inflammatory response

Zenker diverticulum
• Usually ≥age 60
• More common in males
Clinical • Dysphagia
features • Halitosis
• Regurgitation & aspiration
• Variable neck mass
• Barium esophagram
Diagnosis
• Esophageal manometry
• Open/endoscopic surgery
Management
• Cricopharyngeal myotomy

Dyspepsia
definition chronic, intermittent epigastric pain and postprandial discomfort
Nonsteroidal anti-inflammatory drugs,
Gastric or esophageal cancer,
Causes Functional dyspepsia,
Gastroesophageal reflux disease (GERD), and
Symptomatic infection (e.g. peptic ulcer disease [PUD]) with Helicobacter pylori.
Diagnosis Endoscopy should be considered in patients age >55 or with alarm symptoms (e.g. weight loss, bleeding, anemia,
dysphagia, persistent vomiting).
In those without alarm symptoms, evaluation for H pylori infection (e.g. urea breath testing, stool antigen testing)

54
can be performed.

55
 Common GI Diseases (Cont.)
Zollinger-EIIison syndrome
• Age 20-50
Epidemiology
• 80% Sporadic/20% MEN1
• Multiple & refractory peptic ulcers
Clinical
• Ulcers distal to duodenum
features
• Chronic diarrhea
• Markedly elevated serum gastrin (>1000 pg/ml) in the presence of normal gastric acid (pH
Diagnosis
<4)
• Endoscopy
Workup
• CT/MRI & somatostatin receptor scintigraphy for tumor localization

Clinical features of irritable bowel syndrome

Recurrent abdominal pain/discomfort ≥3 days/month for the past 3 months & ≥2 of
the following:
Rome diagnostic • Symptom improvement with bowel movement
criteria
• Change in frequency of stool
• Change in form of stool
Signs/symptoms suggesting etiologies other than IBS
• Rectal bleeding
Warning
• Nocturnal (awakens from or prevents sleep) or worsening abdominal pain
signs/symptoms
• Weight loss
• Abnormal laboratory findings (eg, anemia & electrolyte disorders)

Celiac disease
• First-degree relative with celiac disease
• Autoimmune thyroiditis
Risk
• Type I diabetes
factors
• Down syndrome
• Selective lgA deficiency
• Gastrointestinal
o Abdominal pain
o Nausea &/or vomiting
o Diarrhea (rarely, constipation)
Symptoms o Flatulence & bloating

• Extraintestinal
o Short stature & weight loss
o Iron deficiency anemia
o Dermatitis herpetiformis
• ↑ Tissue transglutaminase lgA
Diagnosis • ↑ Anti -endomysial antibodies
• Duodenal biopsy showing ↑ intraepithelial lymphocytes & flattened villi

56
 Common GI Diseases (Cont.)
Small bowel obstruction
• Colicky abdominal pain, vomiting
Clinical • Inability to pass flatus or stool
presentation • Hyperactive → absent bowel sounds
• Distended & tympanic abdomen
• Dilated loops of bowel with air-fluid levels
Diagnosis • Partial: Air in colon
• Complete: Transition point (abrupt cutoff), no air in colon
• Ischemia/necrosis (strangulation)
Complications
• Bowel perforation
• Bowel rest, nasogastric tube suction, intravenous fluids
Management
• Surgical exploration for signs of complications

Small bowel obstruction versus ileus

Small bowel
Ileus
obstruction
• Recent surgery (hours to days)
• Prior surgery
Etiology • Metabolic (eg, hypokalemia)
(weeks to years)
• Medication induced
Abdominal • Distension • Possible distension
examination • Increased bowel sounds • Reduced/absent bowel sounds
Small bowel dilation Present Present
Large bowel dilation Absent Present

Features of carcinoid syndrome

• Skin: flushing, telangiectasias, cyanosis
• Gastrointestinal: diarrhea, cramping
Clinical
• Cardiac: valvular lesions (right > left side)
manifestations
• Pulmonary: bronchospasm
• Miscellaneous: Niacin deficiency (dermatitis, diarrhea & dementia)
• Elevated 24-hour urinary excretion of 5-HIAA
• CT/MRI of abdomen & pelvis to localize tumor
Diagnosis
• OctreoScan to detect metastases
• Echocardiogram (if symptoms of carcinoid heart disease are present)
• Octreotide for symptomatic patients & prior to surgery/anesthesia
Treatment
• Surgery for liver metastases

57
 Common GI Diseases (Cont.)
Small intestinal bacterial overgrowth
• Anatomical abnormalities (eg, strictures, surgery)
Etiology • Motility disorders (eg, diabetes mellitus, scleroderma)
• Other causes (eg, end-stage renal disease, AIDS, cirrhosis, advanced age)
• Abdominal pain, diarrhea, bloating, excess flatulence, malabsorption, weight loss, anemia, &
Signs/ symptoms
nutritional deficiencies
• Endoscopy (gold standard) with jejunal aspirate showing >105 organisms/ml
Diagnosis
• Glucose breath hydrogen testing
Common organism • Streptococci, Bacteroides, Escherichia, Lactobacillus
• 7-10-day course of antibiotics (eg, rifaximin, amoxicillin-clavulanate)
• Avoid antimotility agents (eg, narcotics)
Treatment
• Dietary changes (eg, high-fat, low-carbohydrate)
• Trial of promotility agents (eg, metoclopramide)

Acute mesenteric ischemia

• Rapid onset of periumbilical pain (often severe)
Presentation • Pain out of proportion to examination findings
• Hematochezia (late complication)
• Atherosclerosis (acute on chronic)
Risk factors • Embolic source (thrombus, vegetations)
• Hypercoagulable disorders
• Leukocytosis
Laboratory
• Elevated amylase & phosphate levels
findings
• Metabolic acidosis (elevated lactate)
• CT (preferred) or MR angiography
Diagnosis
• Mesenteric angiography, if diagnosis unclear

Chronic mesenteric ischemia

Etiology • Atherosclerosis (smoking, dyslipidemia)

Clinical • Crampy, postprandial, epigastric pain

features • Food aversion (‫ & ) ُنفُور‬weight loss
• Signs of malnutrition, abdominal bruit
Diagnosis
• CT angiography (preferred), Doppler ultrasonography
• Risk reduction (eg, tobacco reduction), nutritional support
Management
• Endovascular or open surgical revascularization

Clinical features of acute diverticulitis

• Abdominal pain (usually lower left quadrant)
Clinical
• Fever, nausea & vomiting
presentation
• Ileus (peritoneal irritation)
Diagnosis • Abdominal CT (oral & intravenous contrast)
• Bowel rest
Management
• Antibiotics (eg, ciprofloxacin, metronidazole)
Complications • Abscess, obstruction, fistula, perforation

58
 Common GI Diseases (Cont.)
Crohn disease
 Gl: Abdominal pain, nonbloody diarrhea, oral ulcers, malabsorption, weight loss, fistula/abscess
Clinical formation
findings  Extraintestinal: MSK (arthritis), eye (eg, uveitis, scleritis, episcleritis), skin (eg, erythema
nodosum, pyoderma gangrenosum)
 ↑ WBC, iron deficiency anemia, ↑ inflammatory markers
 Endoscopy: Focal ulcerations adjacent to normal mucosa (cobblestoning), skip areas of
Diagnosis
disease
 Radiography: Strictures, bowel wall thickening
 5-ASA drugs, corticosteroids, antibiotics
Treatment  Azathioprine
 Anti-TNF therapies
ASA = aminosalicylic acid; Gl = gastrointestinal; MSK = musculoskeletal; TNF = tumor necrosis factor;
WBC = white blood cell.

Ulcerative colitis
• Bloody diarrhea
Symptoms
• Weight loss, fever
• Erythema, friable mucosa
• Pseudopolyps
Endoscopic
findings • Involvement of rectosigmoid
• Continuous colonic involvement (no skip
lesions)
• Mucosal & submucosal inflammation
Biopsy
• Crypt abscesses
• Toxic megacolon
• Primary sclerosing cholangitis
Complications • Colorectal cancer
• Erythema nodosum, pyoderma gangrenosum
• Spondyloarthritis

Crohn disease Ulcerative colitis

• Extending from the mouth to the
anus
(mostly ileum & colon) • Rectum (always) & colon
Involvement
• Rectum spared • Continuous lesions
• Perianal disease
• Skip lesions
Microscopy • Noncaseating granulomas • No granulomas
• Transmural inflammation
• Linear mucosal ulcerations • Mucosal & submucosal inflammation
Gross
• Cobblestoning • Pseudopolyps
• Creeping fat
Clinical
• Diarrhea (bloody if colitis) • Bloody diarrhea
manifestations
• Fistulas
Intestinal
• Stnctures (bowel obstruction) • Toxic megacolon
complications
• Abscesses

59
 Common GI Diseases (Cont.)
Common causes of steatorrhea
• Chronic pancreatitis due to alcohol abuse, cystic fibrosis, or
Pancreatic insufficiency autoimmune/hereditary pancreatitis
• Pancreatic cancer
• Small-bowel Crohn disease
• Bacterial overgrowth
Bile salt-related • Primary biliary cirrhosis
• Primary sclerosing cholangitis
• Surgical resection of ileum (at least 60-100 cm)
• Celiac disease surface
Impaired intestinal
• AIDS enteropathy
epithelium
• Giardiasis
• Whipple disease
Other rare causes • Zollinger-EIIison syndrome
• Medication-induced

Clinical features of alcoholic hepatitis

Clinical presentation
Laboratory/Imaging
studies
• Jaundice, anorexia, fever
• Right upper quadrant &/or epigastric pain
• Abdominal distension due to ascites
• Proximal muscle weakness from muscle wasting (If
malnourished)
• Possible hepatic encephalopathy
• Elevated AST & ALT, usually <300 U/l
• AST:ALT ratio ≥2
• Elevated gamma-glutamyltransferase, bilirubin, &/or INR
• Leukocytosis, predominantly neutrophils
• Decreased albumin if malnourished
• Abdominal imaging may show fatty liver

Nonalcoholic fatty liver disease

• Hepatic steatosis on imaging or biopsy
Definition • Exclusion of significant alcohol use
• Exclusion of other causes of fatty liver
• Mostly asymptomatic
Clinical • Metabolic syndrome
features • +/- Steatohepatitis (AST/ALT ratio <1)
• Hyperechoic texture on ultrasound
• Diet & exercise
Treatment
• Consider bariatric surgery if BMI >35

60
 Common GI Diseases (Cont.)
Hepatic encephalopathy
• Drugs (eg, sedatives, narcotics)
• Hypovolemia (eg, diarrhea)
• Electrolyte changes (eg, hypokalemia)
Precipitating factors
• ↑ nitrogen load (eg, Gl bleeding)
• Infection (eg, pneumonia, UTI, SSP)
• Portosystemic shunting (eg, TIPS)
• Sleep pattern changes
• Altered mental status
Clinical presentation
• Ataxia
• Asterixis
• Correct precipitating causes
(eg, fluids, antibiotics)
Treatment
• ↓ blood ammonia concentration
(eg, lactulose, rifaximin)
Gl = gastrointestinal; SBP = spontaneous bacterial peritonitis;
TIPS = Transjugular lntrahepatic Portosystemic Shunt; UTI= urinary tract
infection

Serological Markers of Hepatitis B

HBsAg HBeAg HBcAb HBsAb
Acute +ve +ve IgM -
Window - - IgM -
Recovery phase - +ve IgG IgG
Resolved - - IgG IgG
No infectivity +ve - IgG -
Chroni
c With
+ve +ve IgG -
infectivity
Immunized - - - IgG

Clinical features of chronic hepatitis C

 Can be asymptomatic or develop fatigue (most common)
Clinical  Other nonspecific symptoms (e.g. nausea, anorexia, myalgia, arthralgia, weakness, weight loss)
 Serum transaminases can be elevated or normal (up to 1/3 of patients)
presentation
 Can progress to cirrhosis in up to 20% of patients
 Increased risk of hepatocellular carcinoma
 Heme: Essential mixed cryoglobulinemia → palpable purpura, arthralgias and renal
Extrahepatic complications (usually membranoproliferative glomerulonephritis).
 Renal: Membranoproliferative glomerulonephritis
manifestation  Skin: Porphyria cutanea tarda (fragile skin, photosensitivity, and vesicles and erosions on the
s dorsum of the hands), lichen planus
 Endocrine: Increased risk of diabetes
Immunization  Should be immunized against hepatitis A and B

61
 Common GI Diseases (Cont.)
Liver disorders unique to pregnancy
Disorder Presentation Laboratory abnormalities
• Elevated bile acids
ICP • Intense pruritus • Elevated levels of liver aminotransferases
• Diagnosis of exclusion
• Preeclampsia • Hemolysis
HELLP • Right upper-quadrant pain • Moderately elevated liver aminotransferases
• Nausea/vomiting • Thrombocytopenia
• Malaise • Hypoglycemia
• Right upper-quadrant pain • Mildly elevated liver aminotransferases
AFLP
• Nausea/vomiting • Elevated bilirubin
• Sequelae of liver failure • Possible disseminated intravascular coagulopathy
ICP = intrahepatic cholestasis of pregnancy; HELLP = hemolysis, elevated liver enzymes, and low platelets;
AFLP = Acute fatty liver of pregnancy

Acute pancreatitis
• Chronic alcohol use (~ 40%)
• Gallstones (~ 40%)
• Hypertriglyceridemia
Etiology
• Drugs (eg, didanosine, azathioprine, valproic acid, thiazides)
• Infections (eg, CMV, Legionella, Aspergillus)
• Iatrogenic (post-ERCP, ischemic/atheroembolic)
Diagnosis (requires 2 of the following)
• Acute epigastric pain radiating to the back
• ↑ Amylase or lipase >3 times normal limit
• Abnormalities on imaging consistent with pancreatitis
Clinical (focal or diffuse pancreatic enlargement with heterogeneous enhancement with intravenous
presentation contrast [CT] or diffusely enlarged & hypoechoic pancreas [ultrasound])
Other findings
• Nausea, vomiting, leukocytosis
• ALT level >150 U/L suggests biliary pancreatitis
• Severe disease: Fever, tachypnea, hypoxemia, hypotension
• Pleural effusion
• Ileus
Complications
• Pancreatic pseudocyst/abscess/necrosis
• Acute respiratory distress syndrome

62
 Common GI Diseases (Cont.)
Overview of chronic pancreatitis
• Alcohol use
• Cystic fibrosis (common in children)
Etiology
• Ductal obstruction (e.g. malignancy, stones)
• Autoimmune
• Chronic epigastric pain with intermittent pain-free intervals
Clinical presentation • Malabsorption-steatorrhea, weight loss
• Diabetes mellitus
• Amylase/lipase can be normal & nondiagnostic
Laboratory
results/Imaging • CT scan or MRCP can show calcifications, dilated ducts & enlarged
pancreas
• Pain management
• Alcohol & smoking cessation
Treatment
• Frequent, small meals
• Pancreatic enzyme supplements

Pancreatic adenocarcinoma
• Smoking
• Hereditary pancreatitis
Risk factors
• Nonhereditary chronic pancreatitis
• Obesity & lack of physical activity
• Systemic symptoms (e.g. weight loss, anorexia) (>85%)
• Abdominal pain/back pain (80%)
Clinical • Jaundice (56%)
presentation • Recent-onset atypical diabetes mellitus
• Unexplained migratory superficial thrombophlebitis
• Hepatomegaly & ascites with metastasis
• Cholestasis ( ↑ alkaline phosphatase & direct bilirubin)
Laboratory studies • ↑ Cancer-associated antigen 19-9 (not as a screening test)
• Abdominal ultrasound (if jaundiced) or CT scan (if no jaundice)

Acute cholangitis
• Fever, jaundice, right upper quadrant pain (Charcot triad)
Clinical • Mental status changes, hypotension (Reynolds pentad)
presentation • Liver failure
• Acute kidney injury
• Biliary dilation on ultrasound or CT scan
Diagnosis • ↑ Alkaline phosphatase, gamma-glutamyl-transpeptidase, direct bilirubin
• Leukocytosis, ↑ C-reactive protein
• Biliary drainage: Endoscopic retrograde Cholangiopancreatography (ERCP)
with
Treatment sphincterotomy or percutaneous transhepatic cholangiography (PTC)
• Broad-spectrum antibiotics: Beta-lactam/beta-lactamase inhibitor,
third-generation cephalosporin + metronidazole

63
64
 Common GI Diseases (Cont.)
Clinical features of malignant biliary obstruction
 Cholangiocarcinoma
Etiologies  Pancreatic or hepatocellular carcinoma
 Metastatic cancer (eg, colon, gastric)
 Jaundice (can be painless)
 Pruritus, weight loss, acholic stools with dark urine
Clinical  Examination: Can be normal or show right upper- quadrant mass, tenderness, or
presentation hepatomegaly
 Laboratory: ↑ Direct bilirubin, ↑ alkaline phosphatase & gamma-glutamyl transpeptidase &
normal to ↑ AST &ALT
 Abdominal imaging (ultrasound or computed tomography)
Evaluation  Magnetic resonance cholangiopancreatogram or endoscopic retrograde
cholangiopancreatogram if imaging is nondiagnostic

Primary biliary cholangitis (primary biliary cirrhosis)

Pathogenesis • Autoimmune destruction of intrahepatic bile ducts
• Affects middle-age women
• Insidious onset of fatigue & pruritus
Clinical features
• Progressive jaundice, hepatomegaly, cirrhosis
• Cutaneous xanthomas & xanthelasmas
• Cholestatic pattern of liver injury
( ↑ ↑ alkaline phosphatase, ↑ aminotransferases)
Laboratory findings
• Antimitochondrial antibody
• Severe hypercholesterolemia
• Ursodeoxycholic acid (delays progression)
Treatment
• Liver transplantation for advanced disease
• Malabsorption, fat-soluble vitamin deficiencies
• Metabolic bone disease (osteoporosis,
Complications
osteomalacia)
• Hepatocellular carcinoma

Primary sclerosing cholangitis

• Fatigue & pruritus
• Majority of patients asymptomatic at time of diagnosis
Clinical features
• About 90% of patients have underlying inflammatory bowel disease, mainly ulcerative
colitis

Laboratory/Imagin • Cholestatic liver function test pattern (serum aminotransferases typically <300 UIL)
g • Multifocal stricturing/dilation of intrahepatic &/or extrahepatic bile ducts on cholangiography
• Fibrous obliteration of bile ducts with concentric replacement by connective tissue in an
Liver biopsy
"onion-skin" pattern
• Intrahepatic &/or extrahepatic biliary stricture
• Cholangitis & cholelithiasis (cholesterol &/or pigment stones)
Complications • Cholangiocarcinoma (10%-15% lifetime risk)
• Cholestasis (eg, ↓ fat-soluble vitamins, osteoporosis)
• Colon cancer

65
 Common GI Diseases (Cont.)
Water-soluble vitamins
Vitamin Source Deficiency
 Beriberi (peripheral neuropathy,
Whole grains, meat, fortified cereal,
B1 (thiamine) heart failure)
nuts, legumes
 Wemicke-Korsakoff syndrome
 Angular cheilosis, stomatitis,
glossitis
B2 (riboflavin) Dairy, eggs, meat, green vegetables
 Normocytic anemia
 Seborrheic dermatitis
 Pellagra (dermatitis, diarrhea,
B3 (niacin) Meat, whole grains, legumes
delusions/dementia, glossitis)
 Cheilosis, stomatitis, glossitis,
B6 (pyridoxine) Meet, whole grains, legumes, nuts
 Irritability, confusion, depression
Green leafy vegetables, fruit, meat,  Megaloblastic anemia
B9 (folate, folic acid)
fortified cereal/grains  Neural tube defects (fetus)
 Megaloblastic anemia
B12 (cobalamin) Meat, dairy  Neurologic deficits (confuston,
 paresthesias, ataxia)
Citrus fruits, strawberries, tomatoes,  Scurvy (punctate hemorrhage,
C (ascorbic acid)
potatoes, broccoli gingivitis, corkscrew hair)

Clinical manifestations of trace mineral deficiencies

Chromiu
• Impaired glucose control in diabetics
m
• Brittle hair
• Skin depigmentation
Copper • Neurologic dysfunction (eg, ataxia, peripheral neuropathy; mimic vitamin B12 deficiency)
• Sideroblastic anemia
• Osteoporosis
Iron • Microcytic anemia
• Thyroid dysfunction
• Cardiomyopathy → heart failure signs (eg, jugular venous distension, lower extremity
Selenium
edema)
• Immune dysfunction
• Alopecia
• Pustular skin rash (perioral region & extremities)
• Hypogonadism
Zinc
• Impaired wound healing
• Impaired taste
• Immune dysfunction

66
 CONSTIPATION/DIARRHEA
Altering constipation &
Constipation Diarrhea
diarrhea

Differential Workup Differential Workup Differential Workup

Constipation  Rectal Infectious diarrhea  Rectal exam,

Colorectal
due to low-fiber exam (gastroenteritis)bacterial, stool for occult
 Rectal exam, stool cancer
diet  BMP viral, parasitic, protozoal blood
for occult blood  CBC with cliff
 Stool leukocytes  CMP
and culture  Colonoscopy
Irritable bowel
Depression Food poisoning  CBC  Barium enema
syndrome
 BMP  CT -abdomen/
 CT pelvis
-abdomen/pelvis
Substance abuse  Urine
Cryptosporidiosis Diverticulosis  Barium enema
(e.g. heroin) toxicology
 Rectal exam, stool
for occult blood
 Stool leukocytes
and culture
Inflammatory bowel Inflammatory
Irritable bowel  CBC
 BMP disease (Crohn disease, bowel
syndrome  Electrolytes
ulcerative colitis) disease
 Colonoscopy with
biopsy
 AXR
 CT-abdomen
GI parasitic
Pseudomembranous  Stool for C difficile infection  Stool for ova and
Hypothyroidism  TSH,freeT4
(Clostridium difficile) colitis toxin (ascariasis, parasitology
giardiasis)
 Rectal exam Chronic  CT
Traveler's diarrhea
 Stool leukocytes, pancreatitis -abdomen/pelvis
Giardiasis culture, Giardia
antigen,
Entamoeba
Amebiasis histolytica antigen
 CBC
 CMP
 Viral hepatitis
Hepatitis A
serologies
 Hydrogen breath Lactose
Lactose intolerance
test intolerance
Hyperthyroidism  TSH
 (tTG) lgA
 Anti -endomysial
Celiac disease Celiac disease
Ab
 Duodenal biopsy
 CBC
Small bowel lymphoma  CMP
 CT-abdomen
 24-hour urinary
excretion of 5-
HIAA
Carcinoid syndrome
 CT/MRI of
abdomen & pelvis
 OctreoScan

67
Key History
 Onset, frequency, color, odor, and volume of stools;
 Presence of mucus or flatulence;
 Whether stools float in bowl;
 Duration of change in bowel habits;
 Associated symptoms (constitutional, abdominal pain, bloating, tenesmus, sense of incomplete evacuation, melena
or hematochezia);
 Context (after meals, association with particular foods);
 Thyroid disease symptoms (e.g. feeling hot/cold, palpitations, weight loss/gain);
 Diet (especially fiber and fluid intake);
 Medications (including recent antibiotics);
 Sick contacts, travel, camping, HIV risk factors;
 History of abdominal surgeries, diabetes, pancreatitis;
 Alcohol and drug use;
 Family history of colon cancer.

Considerable questions:

Bowel Symptoms
 Has there been any change in your bowel movement?
 Do you have diarrhea?
 Are you constipated?
 How long have you had diarrhea/constipation?
 How many bowel movements do you have per day/week?
 What does your stool look like?
 What color is your stool?
 Is there any mucous or blood in it?
 Do you feel any pain when you have a bowel movement?
 Did you travel recently?
 Do you feel as though you strain to go to the bathroom or a very small amount of feces come out?
 Have you lost control of your bowel?
 Do you feel as though you have very little time to make it to the bathroom once you have the urge to have the bowel
movement?

Key Physical Exam

 Vital signs;
 Heart exam, lung exam, relevant thyroid/ endocrine exam;
 Abdominal and rectal exams;
 ± Female pelvic exam.

68
 UPPER GI BLEEDING
Differential Workup
Bleeding peptic ulcer  CBC, type and cross
Gastritis  CMP
 AST/ALT /bilirubin/alkaline phosphatase
Mallory-Weiss tear
 INR
Esophageal varices  Rectal exam, stool guaiac testing
Gastric cancer  Upper endoscopy (including H pylori testing if ulcer is confirmed)

Key History
 Amount, duration, context (after severe vomiting. alcohol ingestion, nosebleed);
 Associated symptoms (constitutional symptoms such as fevers, weight loss, or night sweats; nausea; abdominal
pain; dyspepsia);
 Medications (especially blood thinners such as warfarin or factor Xa inhibitors, NSAIDs, and corticosteroids);
 History of peptic ulcer disease, liver disease, abdominal aortic aneurysm repair, easy bleeding.

Key Physical Exam

 Vital signs, including orthostatics;
 HEENT, heart, lung, abdominal, and rectal exams.

BLOOD IN STOOL
Differential Workup
Hemorrhoids
Anal fissure
Proctitis  Rectal exam with stool guaiac testing
 CBC,CMP
Diverticulosis
 AST/ALT /bilirubin/alkaline phosphatase
Dysentery  PT/PTT
Angiodysplasia  CEA
 Colonoscopy
Inflammatory bowel disease
 CT -abdomen/pelvis
Ischemic bowel disease  Tagged RBC scan
Upper GI bleeding
Colorectal cancer

Key History
 Melena versus bright red blood per rectum;
 Amount, duration;
 Associated symptoms (constitutional symptoms like fevers, weight loss, or night sweats; abdominal or rectal pain;
tenesmus; constipation or diarrhea);
 Menstrual cycle;
 Trauma;
 History of similar symptoms;
 Prior colonoscopy;
 Medications (blood thinners, NSAIDs);
 History of easy bleeding or atherosclerotic vascular disease, renal disease, aortic valve disease, liver disease,
alcoholism, or abdominal aortic aneurysm repair;
 Family history of colon cancer.

Key Physical Exam

 Vital signs (including orthostatics); abdominal and rectal exams

69
 HEMATURIA
Differential Workup
Nephrolithiasis
UTI; Pyelonephritis  Genitourinary and rectal exams
 CBC,CMP
Acute glomerulonephritis (e.g. IgA nephropathy)
 PT/PTT,PSA
Polycystic kidney disease  UA, urine cytology
Coagulation disorder (i.e. factor VIII antibodies)  U/S-renal/bladder
 CT-abdomen/ pelvis
Bladder cancer
 Cystoscopy
Renal cell carcinoma  Prostate biopsy
Prostate cancer

Key History
 Amount, duration, presence of clots;
 Associated symptoms (constitutional symptoms such as fevers, weight loss, or weight sweats; renal colic; dysuria;
irritative voiding symptoms);
 Timing along the stream where blood appears (initial vs terminal vs throughout);
 Medications (blood thinners, NSAIDs);
 History of vigorous or prolonged exercise, trauma, smoking, stones, cancer, or easy bleeding;
 Skin bruising (purpura).

Considerable questions:

Urinary Symptoms
 Has there been any change in your urinary habits?
 How often do you have to urinate?
 Do you have any difficulty urinating?
 Do you need to strain/push during urination?
 Do you have any pain or burning during urination?
 Have you noticed any weakness in your stream?
 Have you noticed any change in the color of your urine?
 Have you noticed any blood in your urine?
 Do you feel that you haven’t completely emptied your bladder after urination?
 Do you have to wake up at night to urinate?
 Do you feel as though you need to urinate but then very little urine comes out?
 Do you feel as though you have to urinate all the time?
 Do you feel as though you have very little time to make it to the bathroom once you feel the urge to urinate?

Key Physical Exam

 Vital signs;
 Lymph nodes (especially pelvic);
 Abdominal exam;
 Genitourinary and rectal exams;
 Extremities.

70
 OTHER URINARY SYMPTOMS
Presentation Differential Workup
Benign prostatic hypertrophy (BPH)  UA
Prostate cancer  PSA
LOTS
 CBC,CMP
Nocturia, urgency, weak stream, and Urolithiasis  U/S-prostate (transrectal)
terminal dribbling, urinary retention,
UTI  CT-pelvis
lower back pain
 MRI-spine
Renal cell carcinoma  Prostate biopsy
Urethritis  UA, urine culture
Cystitis  Gram stain and culture of urethral
discharge
Symptoms of infection Prostatitis  CBC,
Burning sensation during urination and Acute pyelonephritis  CMP
urethral discharge urinary frequency,  NAAT urine for chlamydia and
Nephrolithiasis
fever, chills, and nausea. gonorrhea screening
There is left CVA tenderness on exam  RPR
 HIV
Renal cell carcinoma
 U/S-renal
 CT -abdomen,

Symptoms of incontinence Stress incontinence

 UA, urine culture
Urinary leakage after exercise Urge incontinence
 CMP
Loses a small amount of urine when she Overflow incontinence  Postvoid residual
coughs, laughs, or sneezes
Mixed incontinence  Bladder stress test
Unable to suppress the urge to urinate  Cystourethroscopy
and loses large amounts of urine without Functional incontinence
 Urodynamic testing
warning UTI

Key History
 Duration, obstructive symptoms (hesitancy, diminished stream, sense of incomplete bladder emptying, straining, postvoid
dribbling, leakage with cough or sneeze, incontinence), irritative symptoms (urgency, frequency, nocturia), constitutional
symptoms (fevers, weight loss, night sweats);
 Bone pain;
 Medications;
 History of UTIs, urethral strictures, or urinary tract instrumentation;
 Renal stones, diabetes, alcoholism.

Key Physical Exam

 Vital signs;
 Abdominal exam (including suprapubic percussion to assess for a distended bladder);
 Genital and rectal exams;
 Focused neurologic exam.

71
 ERECTILE DYSFUNCTION
Differential Workup
Psychogenic ED  Genital and rectal exams
Drug--related erectile dysfunction (ED)  CBC
 CMP
ED caused by hypertension
 TSH
ED caused by diabetes mellitus  Fasting glucose level
Peyronie disease  Testosterone level

Key History
 Duration, severity, presence of nocturnal erections, libido, stress or depression, trauma, associated incontinence;
 Gynecomastia or loss of body hair;
 Medications (and recent changes);
 Medical history (hypertension, diabetes, high cholesterol, known atherosclerotic vascular disease, prior prostate surgery, liver
disease, thyroid disease, neurologic disease);
 Smoking, alcohol, and drug use.

Key Physical Exam

 Vital signs;
 Cardiovascular exam;
 Genital and rectal exams.

Considerable questions:

Sexual History
 I would like to ask you some questions about your sexual health & practice!
 Are you sexually active?
 With men, women or both?
 Tell me more about our sexual partner or partners?
 How many sexual partners have you had in the past year?
 Do you currently have one or more than one?
 Do you use condoms or other contraceptives? Always?
 Have you ever had STD?
 Have you ever been tested for HIV?
 Do you have any problem with sexual function?
 Do you have any problem with erection?

72
 AMENORRHEA
Differential Workup
 Urine hCG
 Pelvic exam
Pregnancy
 U/S-transvaginal
 CBC
 Pelvic exam
Anovulatory cycle  Urine hCG
"FSH and LH levels are normal"  Transabdominal and transvaginal ultrasound
 LH/FSH, TSH, prolactin
 Pelvic exam
 Urine hCG
Polycystic ovary syndrome
 Transabdominal and transvaginal ultrasound
 LH/FSH, TSH, prolactin
 Menstrual irregularity for at least 3 consecutive months
Premature ovarian failure  FSH and estradiol levels
"FSH and LH levels are elevated"  Prolactin and TSH
 Transabdominal and transvaginal ultrasound
 ACTH
 Pelvic exam
Pituitary infarction (Sheehan syndrome)  Urine hCG
 LH/FSH, prolactin
 MRI-brain
Asherman syndrome  Hysteroscopy
Menopause
"FSH and LH levels are elevated with  LH/FSH, TSH, prolactin
menopause"
 Urine hCG
 CBC
Anorexia nervosa  Electrolytes
 TSH,FT4
 LH/FSH
 Pelvic and breast exams
Amenorrhea secondary to prolactinoma  Urine hCG
Pituitary tumor
 LH/FSH, TSH, prolactin
"FSH and LH levels are very low"
 MRI-brain
Thyroid disease  TSH,FT4
 Transabdominal and transvaginal ultrasound
Ovarian or adrenal malignancy  LH/FSH, TSH, prolactin
 Testosterone, DHEAS

Key History
 Primary versus secondary, duration, possible pregnancy;
 Associated symptoms (headache, decreased peripheral vision, galactorrhea, hirsutism, virilization, hot flashes, vaginal dryness,
symptoms of thyroid disease);
 History of anorexia nervosa, excessive dieting, vigorous exercise, pregnancies, D&Cs, uterine infections;
 Drug use; medications.

Key Physical Exam

 Vital signs;
 Breast exam;
 Pelvic exam.

73
Considerable questions:

Obstetric History
MLPA VPP
Menarche/Menopause
 At what age did you have your first menstrual period?
LMP
 When was the first day of your last menstrual period?
Period
 How often do you get your menstrual period?
 How long does it last?
 How many pads/tampons do you use per day?
Abnormal Menses
 Have you noticed any change in your period?
 Do you have cramps?
 Have you noticed any spotting between periods?
Vaginal Discharges
 Do you have any vaginal discharges?
 What is the color & smell of discharges?
 Can you estimate the amount of your discharges?
 Do you have pain during intercourse?
 Do you have any problem controlling your bladder?
Parity
 Have you ever been pregnant?
 How many times?
 How many children do you have?
 Have you ever had a miscarriage or an abortion?
Pap
 Have you had a Pap smear before?

74
 Evaluation of Primary Amenorrhea

Pelvic examination
or ultrasonography

Uterus present Uterus absent

Karyotyping
Serum FSH Serum
testosterone

XX .46 XY .46
Increased Decreased Normal Female Normal Male
testosterone levels testosterone levels

Abnormal Androgen
Karyotyping Cranial MRI Mullerian insensitivity
development syndrome

 Isolated amenorrhea with well-developed secondary sexual characteristics can be considered normal up to the age of 16.
 However, if secondary sexual characteristics are absent, as with this patient, work-up should not be delayed beyond age 14.
 The absence of breast development indicates a lack of estrogen, so measuring the estrogen level provides no additional
information.
 Primary amenorrhea can be due to either
o Hypothalamic/pituitary (central) abnormalities, or
o Gonadal (peripheral) abnormalities.
 This distinction can be made by measurement of the FSH level.
o Increased FSH (hypergonadotropic amenorrhea) indicates a peripheral cause, and
o Decreased FSH (hypogonadotropic amenorrhea) indicates a central cause.
 If the amenorrhea is of central origin, a pituitary MRI is indicated to look for a lesion in the sella turcica.
 If amenorrhea is of peripheral origin, Karyotyping would be the next step

75
 VAGINAL BLEEDING
Differential Workup
 Pelvic exam
 Pap smear
 CBC
 Dysfunctional uterine bleeding  PT/PTT
 Coagulation disorder (e.g. Von Willebrand disease, hemophilia)  Urine hCG
 Hypothyroidism  Cervical culture
 ESR
 LH/FSH, TSH, prolactin
 U/S-pelvis
 UrinehCG
 Spontaneous abortion  Pelvic exam
 Ectopic pregnancy  Quantitative serum hCG
 Molar pregnancy  U/S-abdomen/ pelvis
 Ovarian torsion  CBC
 Pelvic inflammatory disease  PT/PTT
 Cervical cultures
 Cervicitis  Pelvic exam
 Cervical polyp  Pap smear
 Cervical cancer  Colposcopy and biopsy
 Atrophic vaginitis  HPV testing
 Trauma (e.g. cervical laceration)  Endometrial biopsy
 Pelvic exam
 Pap smear
 Atrophic endometrium
 Endometrial biopsy
 Endometrial hyperplasia
 Endometrial curettage
 Endometrial polyps
 U/S-pelvis
 Endometrial cancer
 Colposcopy
 Hydro-ultrasonography

Key History
 Last menstrual period;
 Pre-, peri-, postmenopausal status;
 Duration, amount;
 Menstrual history;
 Associated discharge;
 Pelvic or abdominal pain;
 Urinary symptoms;
 Trauma;
 Medications or contraceptives;
 History of easy bleeding or bruising;
 History of abnormal Pap smears;
 Prior episodes;
 Pregnancy history.

Key Physical Exam

 Vital signs;
 Abdominal exam;
 Complete pelvic exam.

76
 VAGINAL DISCHARGE
Differential Workup
 Bacterial vaginosis
o Thin, grayish-white, foul-smelling vaginal discharge.
 Vaginitis-candidal  Pelvic exam
o Thick, white, cottage cheese-like, odorless vaginal discharge and vaginal itching  Wet mount, KOH prep, "whiff
test"
 Vaginitis-trichomonal  pH of vaginal fluid
o Malodorous, profuse, frothy, greenish vaginal discharge with intense vaginal  Cervical cultures
itching and discomfort
 Cervicitis (chlamydia, gonorrhea)

Key History
 Discharge amount, color, consistency, odor, duration;
 Associated vaginal burning, pain, or pruritus;
 Recent sexual activity;
 Sexual history;
 Onset of last menstrual period;
 Use of contraceptives, tampons, and douches;
 History of similar symptoms;
 History of sexually transmitted infections.

Key Physical Exam

 Vital signs;
 Abdominal exam;
 Pelvic exam.

Differential Diagnosis of Dysmenorrhea

Diagnosis Clinical features
Primary • Crampy lower abdomen &/or back pain during menses
dysmenorrhea • Normal examination
• Pain peaks before menses
Endometriosis • Dyspareunia
• Infertility
• Heavy menses with clots
Fibroids • Constipation, urinary frequency, pelvic pain/heaviness
• Enlarged uterus on examination
• Dysmenorrhea, pelvic pain
Adenomyosis • Menorrhagia
• Bulky, globular & tender uterus
• Dull & ill-defined pelvic ache that worsens with standing
Pelvic congestion
• Dyspareunia

77
 DYSPAREUNIA
Differential Workup
Vulvodynia
Vaginismus
 Pelvic exam
Atrophic vaginitis  LH/FSH
Cervicitis  Wet mount, KOH prep
 Cervical cultures
Endometriosis  U/S-pelvis
Pelvic inflammatory disease  Laparoscopy
 Endometrial biopsy
Domestic violence
Depression

Key History
 Duration, timing;
 Associated symptoms (vaginal discharge, rash, painful menses, GI symptoms, hot flashes);
 Adequacy of lubrication, menopausal status, libido;
 Sexual history, history of sexual trauma or domestic violence;
 History of endometriosis, pelvic inflammatory disease, or prior abdominal/pelvic surgeries.

Key Physical Exam

 Vital signs;
 Abdominal exam;
 Pelvic exam.

78
 ABUSE
Differential Workup
Domestic violence
 XR-skeletal survey
Osteogenesis
 CT-maxillofacial
imperfecta
 Urine toxicology
Substance abuse
1. Forensic exam (sexual assault forensic evidence [SAFE] collection kit)
2. Pelvic exam
3. Urine-βhCG
4. Wet mount, KOH prep
5. Cervical cultures
Rape
6. Chlamydia and gonorrhea testing
7. XR-skeletal survey
8. CBC
9. HIV antibody
10. Viral hepatitis serologies

Key History
 Establish confidentiality;
 Directly question about physical, sexual, or emotional abuse and about fear, safety, escape plan/backup plan;
 History of frequent accidents/injuries, mental illness, drug use;
 Question about if other family members are potentially involved (e.g. children, elders);
 Firearms in the home.

Considerable questions:

Domestic Abuse
SAFE GARDS

Safety at home/Safety of Children

Do you feel safe at home?

Afraid of spouse?
Does anyone (your husband/wife/parents/boyfriend) treat you in a way that hurts you or threatens to hurt you?

Friends/Family who are aware

Emergency plan

Guns/weapons at home

Alcohol/drug abuse

Relationship with spouse

Depressed (if yes; ask SIG EM CAPS)

Suicidal ideation

Key Physical Exam

 Vital signs;
 Complete exam looking for evidence of trauma (HEENT, cardiovascular, pulmonary, abdominal, musculoskeletal, skin) ± pelvic
exam.

79
 JOINT/LIMB PAIN
Presentation Differential Workup
Wrist pain and a black eye after  Domestic violence  XR-wrist
tripping, falling, and hitting her head on  Factitious disorder  CT-head
the edge of a table  Substance abuse  Urine toxicology
 Carpal tunnel syndrome
 Median nerve compression in the  Nerve conduction studies
Wrist pain and a sensation of numbness
forearm or arm  EMG
and burning in her palm and the first,
 Radiculopathy of nerve roots C6  U/S-wrist
second, and third fingers
and C7 in the cervical spine  MRI-spine
 De Quervain tenosynovitis
 ANA, anti-dsDNA, Anti-Sm, ESR, C3,
C4, antiphospholipid antibodies
 Systemic lupus erythematosus (SLE)  RF, anti-CCP
Pain in the interphalangeal joints of her
 Rheumatoid arthritis  ESR,CRP
hands with hair loss and a rash on her
 Psoriatic arthritis  CBC
face.
 Parvovirus B19 infection  XR-hands
 UA, urine sediment
 Antibody titers for parvovirus B19
 RF, anti-CCP
 Rheumatoid arthritis  ANA, anti-dsDNA, Anti-Sm, ESR, C3,
Pain in the metacarpophalangeal joints
 SLE C4, antiphospholipid antibodies
of both hands. Her left knee is also
 Disseminated gonorrhea  CBC
painful and red. She has morning joint
 Arthritis associated with  Cervical culture
stiffness that lasts for an hour.
inflammatory bowel disease  Arthrocentesis and synovial fluid
analysis
 ESR, CRP, RF, anti-CCP, ANA
Pain in the interphalangeal joints of  Psoriatic arthritis
 CBC
both hands. He also has scaly, salmon-  Rheumatoid arthritis
 XR-hands
pink lesions on the extensor surface of  SLE
 XR-pelvis/ sacroiliac joints
his elbows and knees.  Gout
 Uric acid
Inability to use her left leg or bear weight  XR-hip/ pelvis
on it after tripping on a carpet  Hip fracture  CT or MRI-hip
Her left leg is externally rotated,  Hip dislocation  CBC, type and cross
shortened, and adducted, and there is  Pelvic fracture  Serum calcium and vitamin D
tenderness in her left groin.  Bone density scan (DEXA)
 XR-hip
 CT or MRI-hip
Pain in the right groin after a motor
 CBC, type and cross
vehicle accident.  Hip dislocation- traumatic
 PT/PTT
His right leg is flexed at the hip,  Hip fracture
 Urine toxicology and blood alcohol
adducted, and internally rotated
level
 U/S-abdomen (FAST exam)
 XR-knee
Knee stiffness and pain that increases  CBC
with movement. Her symptoms have  Osteoarthritis  ESR
gradually worsened over the past 10  Pseudogout  Knee arthrocentesis and synovial
years. She has noticed swelling and  Gout fluid analysis (cell count, Gram
deformity of the joint and is having  Meniscal or ligament damage stain, culture, crystals)
difficulty walking.  Uric acid
 MRI-knee

80
 JOINT/LIMB PAIN (Cont.)
Presentation Differential Workup
 CBC
 Septic arthritis  Knee arthrocentesis and synovial
 Gout fluid analysis (cell count, Gram stain,
Fevers and right knee pain with swelling  Pseudogout culture, crystals)
and redness.  Lyme arthritis  Blood, urethral cultures
 Trauma  XR-knee
 Reiter syndrome (reactive arthritis)  Uric acid
 Lyme titers-IgG and IgM
 Stress fracture  XR-foot
Right foot pain. He has been training for
 Plantar fasciitis  Bone scan-foot
a marathon.
 Foot sprain or strain  MRI-foot
Pain in the heel of the right foot that is
 Plantar fasciitis
most notable with his first few steps  XR-heel
 Heel fracture
and then improves as he continues  Bone scan-foot
 Splinter/foreign body
walking.
Pain in the elbow when he plays tennis.
His grip is impaired as a result of the
pain.  XR-arm
 Tennis elbow (lateral epicondylitis)
There is tenderness over the lateral  Bone scan
 Stress fracture
epicondyle as well as pain on resisted  MRI-elbow
wrist dorsiflexion (Cozen test) with the
elbow in extension
 Knee arthrocentesis and synovial
Painful wrists and elbows, a swollen and
fluid analysis (cell count, Gram
hot knee joint that is painful on flexion,  Disseminated gonorrhea
stain, culture)
a rash on her limbs, and vaginal  Rheumatoid arthritis
 Blood, cervical cultures
discharge.  SLE
 RF, anti-CCP, ESR
She is sexually active with multiple  Reiter syndrome (reactive arthritis)
 ANA, anti-dsDNA, CBC
partners and occasionally uses condoms
 XR-knee
 Peripheral vascular disease
(intermittent claudication)
Pain in both legs that is induced by  Ankle-brachial index
 Leriche syndrome (aortoiliac
walking and is relieved by rest.  Doppler U/S-lower extremity
occlusive disease)
She had cardiac bypass surgery 6 months  Angiography
 Lumbar spinal stenosis
ago and continues to smoke heavily.  MRI-L-spine
(pseudodaudication)
 Osteoarthritis
Right calf pain. Her calf is tender, warm,  DVT
 Doppler U/S-right leg
red, and swollen compared to the left  Baker cyst rupture
 CBC
side.  Myositis
 CPK
She was started on OCPs 2 months ago  Cellulitis
 D-dimer
for dysfunctional uterine bleeding.  Superficial venous thrombosis
 ECG, troponin, CK-MB
 CBC
 Angina/MI
Left arm pain that started while she was  XR-shoulder
 Tendinitis
swimming and was relieved by rest.  CXR
 Osteoarthritis
 Echocardiography
 Stress test
Right shoulder pain after falling onto his
 Shoulder dislocation  XR-shoulder
outstretched hand while skiing.
 Fracture of the humerus  XR-arm
He noticed deformity of his shoulder
 Rotator cuff injury  MRI-shoulder
and had to hold his right arm.
 CPK
Crampy bilateral thigh and calf pain,  CBC
 Rhabdomyolysis due to statins
fatigue, and dark urine.  CMP, calcium, phosphate, uric add
 Polymyositis
He is on simvastatin and clofibrate for  Aldolase
 Inclusion body myositis
hyperlipidemia.  UA
 Urine myoglobin
Key History

81
 Location, quality, intensity, duration, pattern (small vs large joints; number involved; swelling, redness, warmth);
 Associated symptoms (constitutional, red eye, oral or genital ulceration, diarrhea, dysuria, rash, focal numbness/weakness,
morning stiffness);
 Exacerbating and alleviating factors;
 Trauma (including vigorous exercise);
 Medications;
 DVT risk factors;
 Alcohol and drug use;
 Family history of rheumatic disease;
 Skin rash or bruises.

Key Physical Exam

 Vital signs;
 HEENT and musculoskeletal exams (i.e. palpation of the joint, passive and active range of motion, Phalen maneuver, Tinel sign,
Finkelstein test);
 Relevant neurovascular exam (motor, sensation and reflex testing in affected area);
 Skin exam.

LOW BACK PAIN

Differential Workup
Lumbar muscle strain
Disk herniation
Lumbar spinal stenosis
 MRI-L-spine (preferred)
Vertebral compression  XR-L-spine
fracture  CT-L-spine
Tumor in the vertebral canal  Ankle-brachial index
 ESR,CRP
Peripheral vascular disease
Ankylosing spondylitis
Malingering

Key History
 Location, quality, intensity, radiation, onset (moving furniture, bending/twisting, trauma), timing (disturbs sleep);
 Associated symptoms (especially constitutional symptoms, incontinence, focal muscle weakness);
 Exacerbating and alleviating factors;
 History of cancer, recurrent UTIs, diabetes, renal stones, IV drug use, smoking.

Key Physical Exam

 Vital signs;
 Neurologic exam (especially of L4-S1 nerve roots);
 Straight leg raise test;
 Back palpation and range of motion (although rarely of diagnostic utility);
 Hip exam (can refer pain to the back);
 Examine gait;
 Consider rectal exam.

82
 Joint Pain
Back Pain
Common causes of low back pain
Condition Clinical clues
• Normal neurologic examination
Mechanical
• Negative straight leg raise
(muscle strain, spasm, degenerative arthritis)
• Possible paraspinal tenderness
• Radiculopathy (usually L4-L5)
Herniated nucleus pulposus/ disk disease • Possible positive straight leg raise
• Possible neurologic deficits
Musculoskeleta
• Pseudoclaudication
l
• Better with spine flexion
Spinal stenosis
• Worse with extension
• Older age
• Older age
Compression fracture • More common in women
• Trauma/fall (may be minor)
• Better with activity or exercise
Ankylosing spondylitis, reactive arthritis, psoriatic arthritis, • No improvement with rest
Inflammatory
inflammatory bowel disease • Gradual onset
• HLA-B27 present
• History of malignancy
• Age >50
• Worse at night
Malignancy Metastatic cancer to bone • Unintentional weight loss
• Cauda equina syndrome
(weakness, urine retention/incontinence,
saddle anesthesia)
• Recent infection
• IV drug abuse
Infectious Osteomyelitis, discitis, abscess
• Diabetes
• Fever, exquisite point tenderness

Ankylosing spondylitis
• Insidious onset at age <40
Inflammatory • Symptoms >3 months
back pain • Relieved with exercise but not rest
• Nocturnal pain
• Arthritis (sacroiliitis)
• Reduced chest expansion & spinal mobility
Examination
• Enthesitis (tenderness at tendon insertion sites)
findings
• Dactylitis (swelling of fingers & toes)
• Uveitis
• Osteoporosis/vertebral fractures
Complications • Aortic regurgitation
• Cauda equine syndrome
• Elevated ESR & CRP
Laboratory
• HLA-B27 association
• X-ray of sacroiliac joints
Imaging
• MRI of sacroiliac joints

83
 Joint Pain (Cont.)
Knee Pain
Condition Clinical clues
 Asymptomatic bulge behind knee that diminishes with flexion
Popliteal (Baker) cyst
 Posterior knee pain, swelling, stiffness
 Subacute medial knee pain.
Anserine bursitis  Examination shows a well-defined area of tenderness over the medial tibial
plateau below the joint line
 Pain and swelling directly over the patella, usually following trauma.
Pre-patellar bursitis
 Examination shows cystic swelling over the patella with variable signs of
"housemaid's knee"
inflammation
Stress fractures of the tibia  Progressive pain at the shin and focal tenderness over the fracture site
 Examination findings include tenderness at the medial joint line and valgus
Tears of the medial collateral ligament
laxity
Tears of the lateral collateral ligament  Laxity of the knee with varus stress
 Patients report a popping sound followed by acute pain.
Tears of the medial meniscus  Typical examination findings include a small effusion and crepitus, locking,
or catching with range of motion
 Pain: rapid onset, may be severe
 A "popping" sensation at the time of injury
 Significant swelling (effusion/hemarthrosis)
Anterior cruciate ligament injury
 Joint instability
 On examination: Anterior laxity of tibia relative to femur (anterior findings
drawer test, Lachman test)
 Causes anterior knee pain and is most common in women.
 Patients present with peripatellar pain worsened by activity or prolonged
sitting (due to sustained flexion) and may also have crepitus with motion of
Patellofemoral syndrome
the patella.
 Patellofemoral compression test: pain over the anterior knee that is
reproduced by extending the knee while compressing the patella.
 Causes episodic pain and tenderness at the inferior patella and patellar
tendon.
Patellar tendinitis
 It is usually seen in athletes in jumping sports or in occupations with
repetitive forceful knee extension
 Overuse injury
 Characterized by pain at the lateral knee.
Iliotibial band syndrome
 Examination shows tenderness at the lateral femoral condyle during flexion
and extension
Fractures of the patella  Acute swelling, tenderness, and inability to extend the knee
 Acute monoarthritis: hot, swollen, decreased ROM
Infectious (septic) arthritis  Fever
 Elevated ESR & CRP
Hyperparathyroidism → ↑ calcium
 Acute pain, swelling, redness, and limited motion
pyrophosphate dehydrate (CPPD) →
 Fatigue, constipation, nephrolithiasis
Pseudogout

Differential diagnosis of anterior knee pain in the young patient

Diagnosi
Patellofemoral syndrome Patellar tendonitis Osgood-Schlatter disease
s
 Preadolescent/adolescent
Typical Primarily athletes
Young female athletes athletes
patient ("jumper's knee")
 Recent growth spurt
 ↑ Pain with sports, relieved by
 Subacute to chronic pain ↑ with squatting, Episodic pain &
Clinical rest
running, prolonged sitting, using stairs tenderness at inferior
features  Tenderness & swelling at tibial
 Patellofemoral compression test patella
tubercle

84
85
 Joint Pain (Cont.)
Septic arthritis
• Abnormal joint: OA, RA, prosthetic joint, gout
• Age >80
Risk
• Diabetes
factors
• IV drug abuse, alcoholism
• Intra-articular glucocorticoid injections
• Acute monoarthritis: hot, swollen, decreased ROM
Clinical
• Fever
features
• Elevated ESR & CRP
• Blood cultures
Diagnosis
• Synovial fluid analysis: leukocytosis (>50,000/mm3), Gram stain, culture
Initial • Gram-positive cocci: vancomycin
treatmen • Gram-negative rod: third-generation cephalosporin
t • Negative microscopy: vancomycin ( + third-generation cephalosporin if immunocompromised)

Special tests for knee examination

Valgus stress test
• Place 1 hand above knee along lateral thigh.
Place the other along medial leg & apply outward pressure along calf
MCL/LCL • Laxity indicates MCL injury
injury Varus stress test
• Place 1 hand above knee along medial thigh.
Place the other along lateral leg & apply inward pressure along calf
• Laxity indicates LCL injury
Anterior drawer test
• Have patient lie supine with knee flexed at 90 degrees
• Grip proximal tibia with both hands & pull anteriorly
ACL
Lachman test
injury
• Place knee at 30 degrees flexion
• Stabilize distal femur with 1 hand & pull proximal tibia anteriorly with the other
Significant anterior displacement of tibia with either test indicates ACL injury
Posterior drawer test
• Flex knee to 90 degrees & stabilize foot
• Grasp tibia with both hands & push posteriorly
PCL
• Significant displacement indicates PCL injury
injury
Posterior sag test
• Place patient supine with hips flexed to 45 degrees, knees flexed to 90 degrees & feet flat on table
• PCL injury causes affected tibia to sag (‫ )يرتخي‬backward relative to femur
Thessaly test
• Patient stands on 1 leg With knee flexed 20 degrees
• Pain or locking with internal &/or external knee rotation suggests meniscal tear
Apley test
• With patient prone & knee fixed to 90 degrees, stabilize patient's thigh with examiner's knee or hand
Meniscal
• Press patient's heel directly toward floor while internally & externally rotating foot
tear
• Focal pain with compression suggests meniscal tear
McMurray test
• Passive knee flexion & extension while placing examiner's thumb & index finger on medial
& lateral joint lines
• Clicking with passive movements or medial/lateral rotation suggests meniscal tear
ACL = anterior cruciate ligament; LCL = lateral collateral ligament: MCL = medial collateral ligament,
PCL = posterior cruciate ligament

86
 Joint Pain (Cont.)
Hip Pain
Condition Clinical clues
 Hip pain when pressure is applied (as when sleeping) and with external rotation or
Trochanteric bursitis
resisted abduction
Slipped capital femoral epiphysis  Obese male children during late childhood or early adolescence
 Pain localized deep within the joint that may be referred to the inguinal area or
Hip osteoarthritis rarely to the knee.
 Internal rotation of the hip worsens this pain
 It is a complication of corticosteroid use, trauma, systemic lupus erythematosus,
Proximal femur avascular necrosis
sickle cell disease
Hip fracture  Lower extremity is shortened and externally rotated
 Compression of the lateral femoral cutaneous nerve at the waist.
Meralgia paresthetica
 Burning pain and paresthesias at the lateral thigh
Aortoiliac peripheral vascular  Buttock, thigh, or hip pain and claudication.
disease (Leriche syndrome)  In men it may also cause erectile dysfunction
 Cause referred pain to the posterior hip, thigh, and lower leg.
Impingement of the lumbar nerve
 Hip mobility is normal, but patients may have exacerbation of pain on flexion of the
roots
hip with the knee extended (straight leg raise maneuver)

Shoulder pain
Common causes of shoulder pain
Condition Clinical clues
Rotator cuff • Pain with abduction, external rotation
impingement or • Subacromial tenderness
tendinopathy • Normal range of motion with positive impingement tests (e.g. Neer, Hawkins)
• Similar to rotator cuff tendinopathy
Rotator cuff tear • Weakness with external rotation
• Age >40
Adhesive capsulitis • Decreased passive & active range of motion
(frozen shoulder) • More stiffness than pain
Biceps • Anterior shoulder pain
tendinopathy/ruptur • Pain with lifting, carrying, or overhead reaching
e • Weakness less common
• Uncommon & usually caused by trauma
Glenohumeral
• Gradual onset of anterior or deep shoulder pain
osteoarthritis
• Decreased active & passive abduction & external rotation
 Cervical radiculopathy: pain and paresthesias of the neck and arm along with upper extremity
weakness
Referred pain  Diaphragmatic irritation (e.g. intrathoracic tumor),
 Myocardial ischemia, or
 Hepatobiliary disease (e.g. gallstones)

87
 Joint Pain (Cont.)
Elbow Pain
Condition Clinical clues
 Lateral elbow pain
 History of repetitive or forceful wrist extension
Lateral epicondylitis (Tennis or
 Tenderness at epicondyle & proximal extensor muscles
Golf Elbow)
 Pain with resisted wrist extension or supination
 Pain with passive wrist flexion
 Posterolateral elbow pain similar to that in lateral epicondylitis.
 Weakness of extension at the wrist and third digit,
Radial tunnel syndrome
 Reproduction of pain on resisted supination of the forearm, and pain at the radial
tunnel on resisted hyperextension of the wrist
 Due to repetitive pressure or friction on the elbows.
Olecranon bursitis
 Posterior elbow pain and is usually associated with visible swelling of the bursal sac
Osteoarthritis involving the
 Chronic pain, and most patients have crepitus and limited range of motion
humeroulnar joint
 Pain at the neck and upper arm.
Cervical radiculopathy
 It worsens with changes in neck position

Lateral epicondylitis (Tennis or Golf Elbow)

• Subacute to chronic lateral elbow pain
Clinical • History of repetitive or forceful wrist extension
presentation (lateral epicondyle is the common origin of extensor muscles of forearm)
• Peak incidence age 45-54
• Tenderness at epicondyle & proximal extensor muscles
Diagnosis • Pain with resisted wrist extension or supination
• Pain with passive wrist flexion
• Modified activity & ergonomics
• Inelastic counterforce brace
Managemen
• Nonsteroidal anti-inflammatory drugs (topical or oral)
t
• Stretching & progressive resistance exercise
• Physical therapy

Wrist Pain
Condition Clinical clues
 Pain & paresthesias in median nerve distribution (first 3 & 1/2 digits)
Carpal tunnel syndrome  Positive Phalen & Tinel tests
 Severe disease: Weakness of thumb abduction & opposition, atrophy of thenar eminence
Gout  Exquisitely painful and generally affects the great toes, ankles, wrists, and elbows
 Tenderness can typically be elicited with direct palpation of the radial side of the wrist at
De Quervain tenosynovitis the base of the hand.
 Finkelstein test is positive
Scaphoid fractures  Pain typically localizes to the anatomic snuffbox
Flexor carpi radialis
 Pain with radial flexion of the wrist and point tenderness over the trapezium
tenosynovitis

88
 Joint Pain (Cont.)
Foot & Ankle
Overview of running injuries of the foot & ankle
Injury Clinical features
• Insidious onset
• Focal pain in navicular or metatarsals
Stress • Risk factors:
fracture 0 Abrupt increase in intensity of training,
0 Poor running mechanics,
0 Female with eating disorder
Plantar • Plantar surface of the heel
fasciitis • Worse when initiating running or first steps of the day
Achilles
tendinopath • Burning pain or stiffness 2-6 cm above the posterior calcaneus
y
Morton • Numbness or pain between the 3rd & 4th toes
neuroma • Clicking sensation when palpating space between 3rd & 4th toes while squeezing the metatarsal joints
Tarsal tunnel • Compression of the tibial nerve at the ankle
syndrome • Burning, numbness & aching of the distal plantar surface of the foot/toes

Arthritis
Condition Clinical clues
 Chronic inflammatory arthritis, most commonly affecting the metacarpophalangeal (MCP)
joints.
Rheumatoid arthritis
 Findings include stiffness and doughy swelling of the joints.
 Classically, no involvement of DIP joints
 Produce Heberden and Bouchard nodes, which are hard, bony nodules over the distal and
Severe osteoarthritis proximal interphalangeal joints, respectively
 No involvement of MCP joints
 Age >50
 Bilateral pain & morning stiffness >1 month
 Involvement of 2 of following:
Polymyalgia rheumatica o Neck or torso
o Shoulders or proximal arms
o Proximal thigh or hip
o Constitutional (fever, malaise, weight loss)
SLE  Malar rash, metacarpophalangeal synovitis
 Exocrine features:
o Keratoconjunctivitis sicca
o Dry mouth, salivary hypertrophy
o Xerosis of skin
Sjögren syndrome  Extraglandular features:
o Raynaud phenomenon
o Cutaneous vasculitis
o Arthralgia/arthritis
o Interstitial lung disease
 Purulent arthritis without skin lesions
OR
Disseminated gonococcal Triad of:
infection (DGI)  Tenosynovitis (eg, wrist, ankles, fingers & knees)
 Dermatitis (pustules, macules, papules & bullae)
 Migratory asymmetric polyarthralgia without purulent arthritis

89
 Joint Pain (Cont.)
Arthritis (Cont.)
Condition Clinical clues
 Joints (migratory arthritis)
 ♥ (Carditis)
Acute rheumatic fever  Nodules (subcutaneous)
 Erythema marginatum
 Sydenham chorea
 Fever, arthralgias, sore throat, lymphadenopathy, mucocutaneous lesions, diarrhea, and weight
Acute HIV infection
loss
 Caused by genitourinary infection with Chlamydia trachomatis or by certain gastrointestinal
Reactive arthritis infections.
 It presents with a triad of arthritis, conjunctivitis, and urethritis
 Distal interphalangeal joint arthritis, asymmetric oligoarthritis, symmetric polyarthritis,
Psoriatic arthritis spondyloarthropathy, or aggressively destructive arthritis mutilans.
 Most patients have established psoriasis, and nail changes (eg, pitting) are common
Lyme disease  Early skin rash (erythema migrans), followed by arthritis, typically monoarticular knee pain
Hereditary  Hyperpigmentation (bronze diabetes)
hemochromatosis  Arthralgia, arthropathy & chondrocalcinosis
 Acute, symmetrical arthralgia/arthritis usually in the hands, wrists, knees & feet (resembles
parvovirus B19 infection
RA)
 Polyarthritis affecting the ankles and knees
 Cough, chest pain, and dyspnea.
Sarcoidosis
 Cutaneous manifestations: erythema nodosum; multiple tender pink to reddish nodules below
the knee
 Systemic: Fatigue, weakness
 Skin: Telangiectasia, sclerodactyly, digital ulcers, calcinosis cutis
Systemic sclerosis
 Extremities: Arthralgias, contractures, myalgias
(scleroderma)
 Gastrointestinal: Dysphagia, dyspepsia
 Vascular: Raynaud phenomenon
 Female, Asian, Age 10-40
 Constitutional (eg, fever, weight loss)
Takayasu arteritis
 Arterio-occlusive (eg, claudication, ulcers) in upper extremities
 Arthralgias/myalgias
 History of chronic malabsorptive diarrhea (steatorrhea, flatulence, abdominal distention),
 Protein-losing enteropathy,
 Weight loss,
Whipple disease  Migratory non-deforming arthritis,
 Lymphadenopathy and a
 Low-grade fever.
 The disease may also cause damage to the eye, CNS and myocardium

90
 Joint Pain (Cont.)
Clinical features of rheumatoid arthritis
Symptoms
• Insidious onset, multiple joint pain, stiffness & swelling
• Morning stiffness lasting hours, improves with activity
• Small joints (eg, PIP, MCP, MTP) commonly involved
• Monoarthritis (eg, knees, elbows) can also occur later
Clinical
• Spares the DIP joint, unlike osteoarthritis
presentation
Examination
• Affected joints are tender to the touch, swollen, with limited range of motion
• Tenosynovitis of the palms → "trigger finger"
• Rheumatoid nodules (especially on elbows)
• Cervical joint involvement can lead to spine subluxation → spinal cord compression
• Positive anti-CCP antibodies (diagnostic testing)
Laboratory/
• High lgM rheumatoid factor
imaging
• High C-reactive protein & ESR correlate with disease activity
studies
• X-ray: Soft-tissue swelling, joint space narrowing & bony erosions
• Felty syndrome: anemia, neutropenia, splenomegaly, and RA.
• Juvenile RA: begins before 18 years of age.
Variants of RA
Extra-articular manifestations may predominate (Still disease) or arthritis may predominate.
• Caplan syndrome: RA associated with pneumoconiosis.
Anti-CCP = anti-cyclic citrullinated peptide; DIP = distal interphalangeal joints; ESR = erythrocyte sedimentation rate;
lgM = Immunoglobulin M; MCP = metacarpophalangeal; MTP = metatarsophalangeal

Manifestations of systemic lupus erythematosus

• Constitutional: Fever, fatigue & weight loss
• Symmetric, migratory arthritis
Clinical • Skin: Butterfly rash & photosensitivity
symptoms • Serositis: Pleurisy, pericarditis & peritonitis
• Thromboembolic events (due to vasculitis & antiphospholipid antibodies)
• Neurologic: Cognitive dysfunction & seizures
• Hemolytic anemia, thrombocytopenia & leukopenia
• Hypocomplementemia (C3 & C4)
Laborator
• Antibodies:
y
o ANA (sensitive)
findings
o Anti-dsDNA & anti-SM (specific)
• Renal involvement: Proteinuria & elevated creatinine

Polymyalgia rheumatica
Clinical features Findings
• Age >50
• Bilateral pain & morning stiffness >1 month
• Involvement of 2 of following:
Symptoms o Neck or torso
o Shoulders or proximal arms
o Proximal thigh or hip
o Constitutional (fever, malaise, weight loss)
Physical
• Decreased active ROM in shoulders, neck & hips
examination
• ESR >40 mm/h, sometimes >100 mm/h
Laboratory • Elevated CRP
studies • Normocytic anemia possible
• ~20% can have normal studies
Treatment Response to glucocorticoids
CRP= C-reactive· protein; ESR =erythrocyte sedimentation rate; ROM = range of

91
 motion
Joint Pain (Cont.)
Sjögren syndrome
• Keratoconjunctivitis sicca
Exocrine
• Dry mouth, salivary hypertrophy
features
• Xerosis of skin
• Raynaud phenomenon
Extraglandular • Cutaneous vasculitis
features • Arthralgia/arthritis
• Interstitial lung disease
• Objective signs of decreased lacrimation (e.g. Schirmer test)
• Positive anti-Ro (SSA) &/or anti-La (SSB)
Diagnostic
• Salivary gland biopsy with focal lymphocytic sialoadenitis
findings
• Classification: primary if no associated CTD,
secondary if comorbid CTD (e.g. SLE, RA, scleroderma)
CTD = connective tissue disease; RA = rheumatoid arthritis; SLE = systemic lupus
erythematosus;
SSA/SSB = Sjögren syndrome.

Systemic sclerosis (scleroderma)

• Progressive tissue fibrosis
Pathogenesis
• Vascular dysfunction
• Fatigue
Systemic
• Joint stiffness & pain
• Telangiectasia
• Sclerodactyly
Skin
• Digital ulcers
• Calcinosis cutis
Vascular • Raynaud phenomenon
• Dysphagia, dyspepsia
Clinical
Gl • Angiodysplasia of stomach (watermelon stomach) with Gl bleeding
features
• Malabsorption due to bacterial overgrowth
• Pulmonary fibrosis
Pulmonary
• Pulmonary arterial hypertension
• Scleroderma renal crisis
o Acute onset oliguric renal failure with malignant hypertension
Renal
o Thrombocytopenia
o Microangiopathic hemolytic anemia
Cardiac • Myocarditis, pericarditis, pericardial effusion
• Antinuclear antibody
Serology • Anti-topoisomerase I (anti-Scl-70) antibody
• Anticentromere antibody
• Lung: Interstitial lung disease, pulmonary arterial HTN
Complications • Kidney: HTN, scleroderma renal crisis (oliguria, malignant HTN, thrombocytopenia, MAHA)
• Heart: Myocardial fibrosis, pericarditis, pericardial effusion
HTN = hypertension; MAHA = microangiopathic hemolytic anemia.

92
 Joint Pain (Cont.)
Takayasu arteritis
• Female
Risk factors • Asian
• Age 10-40
• Constitutional (e.g. fever, weight loss)
Symptoms • Arterio-occlusive (e.g. claudication, ulcers) in upper extremities
• Arthralgias/myalgias
• Blood pressure discrepancies
Examination
• Pulse deficits
findings
• Arterial bruits
• Elevated inflammatory markers (e.g. ESR, CRP)
Diagnosis • Chest x-ray: Aortic dilation, widened mediastinum
• CT/MRI: Wall thickening, narrowing of lumen
Treatment • Systemic glucocorticoids

Disseminated gonococcal infection (DGI)

• Purulent arthritis without skin lesions
OR
Clinical
Triad of:
presentatio
• Tenosynovitis (e.g. wrist, ankles, fingers & knees)
n
• Dermatitis (pustules, macules, papules & bullae)
• Migratory asymmetric polyarthralgia without purulent arthritis
• Blood cultures (2 sets) but may be negative
• Synovial fluid analysis may show up to 50,000 cells/mm 3
Diagnosis • Urethral, cervical, pharyngeal or rectal cultures
• Recommend HIV & syphilis screen
• Recurrent DGI: check terminal complement activity
• IV ceftriaxone 1 g/day for 7-14 days, switch to PO (cefixime) when clinically improved
• Joint drainage for purulent arthritis
Treatment
• Empiric azithromycin (single 1-g dose) OR doxycycline for 7 days for concomitant chlamydial infection
• Treat sexual partners

Acute rheumatic fever

Epidemiolog • Peak incidence: Age 5-15
y • Twice as common in girls
• Joints (migratory arthritis)
• ♥ (Carditis)
Major • Nodules (subcutaneous)
• Erythema marginatum
Clinical
• Sydenham chorea
features
• Fever
• Arthralgias
Minor
• Elevated ESR/CRP
• Prolonged PR interval
Late Mitral regurgitation/stenosis
sequelae
Penicillin for group A streptococcal
Prevention
(Streptococcus pyogenes) pharyngitis

93
 Joint Pain (Cont.)
Clinical features of parvovirus B19 infection
1. Up to 75% of patients are asymptomatic or have flulike symptoms
Signs & 2. Erythema infectiosum (fifth disease); more common in children with fever, nausea & a malar rash on the
symptom cheeks
s 3. Acute, symmetrical arthralgia/arthritis usually in the hands, wrists, knees & feet (resembles RA)
4. Transient aplastic anemia in patients with a history of hematologic disease (eg, sickle cell)
• Acute infection
o B19 lgM antibodies in immunocompetent
Diagnosis o NAAT in immunocompromised
• Previous infection by B19 lgG antibodies (documents immunity)
• Reactivation of previous infection by NAAT to detect B19 DNA
NAAT =nucleic acid amplification testing

Clinical features of psoriatic arthritis

• DIP joints
• Asymmetric oligoarthritis
Arthritis • Symmetric polyarthritis, similar to RA
• Arthritis mutilans (deforming & destructive arthritis)
• Spondylarthritides (sacroiliitis & spondylitis)
• Enthesitis (inflammation at tendon insertion site to bone)
Soft tissue & nail • Dactylitis ("sausage digits") of toe or finger
involvement • Nail pitting & onycholysis
• Swelling of the hands or feet with pitting edema
• Arthritis precedes skin disease in 15% of patients
Skin lesions
• Skin lesions are present but not yet diagnosed in 15% of patients

Common features of sarcoidosis

Epidemiolog • Young adults
y • African Americans
• Constitutional symptoms
• Cough, dyspnea & chest pain
• Extrapulmonary findings
Clinical o Skin lesions: erythema nodosum
o Anterior/posterior uveitis
o Lofgren syndrome: acute form of sarcoidosis characterized by erythema nodosum, bilateral hilar
lymphadenopathy (BHL), and polyarthralgia or polyarthritis
• Bilateral hilar adenopathy
Imaging
• Pulmonary reticular infiltrates
• Hypercalcemia/hypercalciuria
Laboratory
• Elevated serum ACE level
Pathology • Biopsy shows noncaseating granulomas that stain negative for fungi & acid-fast bacilli

94
 Joint Pain (Cont.)
Myopathies and Pain Syndromes
Distinguishing features of fibromyalgia, polymyositis & poly myalgia rheumatica
Clinical features Diagnosis
 Young to middle-aged women
 Chronic widespread pain  ≥3 months of symptoms with widespread pain
Fibromyalgi
 Fatigue, impaired concentration severity score index or symptom
a
 Tenderness at trigger points (eg, mid trapezius,  Normal laboratory studies
costochondral junction)
 Elevated muscle enzymes ( e.g. creatine kinase,
 Proximal muscle weakness (eg, increasing difficulty aldolase, AST)
Polymyositis climbing-upstairs)  Autoantibodies (ANA, anti-Jo-1)
 Pain mild/absent  Biopsy: Endomysial infiltrate, patchy necrosis
 Weakness > pain
 Age >50
 Elevated ESR, C. reactive protein
Poly myalgia  Systemic signs & symptoms
 Rapid improvement with glucocorticoids
rheumatica  Stiffness > pain in shoulders, hip girdle, neck
 Pain > weakness
 Association with giant cell (temporal) arteritis

Para neoplastic
Involved site Clinical features
syndrome
Fluctuating muscle weakness
Acetylcholine receptor
Myasthenia • Ocular (ptosis, diplopia)
in postsynaptic
gravis • Bulbar (dysphagia, dysarthria)
membrane
• Facial, neck & limb muscles
• Proximal muscle weakness
Presynaptic membrane
Lambert-Eaton • Autonomic dysfunction (e.g. dry mouth)
voltage-gated calcium
syndrome • Cranial nerve involvement (e.g. ptosis)
channels
• Diminished or absent deep-tendon reflexes
• Symmetrical & more proximal muscle weakness
• Interstitial lung disease, esophageal dysmotility,
Dermatomyositis/ Raynaud phenomenon
Muscle fiber injury
polymyositis • Polyarthritis
• Esophageal dysmotility
• Skin findings (eg, Gottron papules, heliotrope rash) in dermatomyositis

Polymyositis
Clinical • Symmetrical proximal muscle weakness
presentation • No/mild pain or muscle tenderness
• Elevated muscle enzymes (e.g. CK, aldolase)
Diagnostic
• Autoantibodies (e.g. ANA, anti-Jo-1)
tests
• Biopsy: Endomysial mononuclear infiltrate, patchy necrosis
• Interstitial lung disease
Associated
• Myocarditis
conditions
• Malignancy
• Systemic glucocorticoids
Treatment
• Glucocorticoid-sparing agents (e.g. methotrexate, azathioprine)
ANA= antinuclear antibodies; CK = creatine kinase

95
 Joint Pain (Cont.)
Clinical features of dermatomyositis
Muscle • Proximal, symmetric
weakness • Weakness in UE = LE
• Gottron's papules: Violaceous, slightly scaly papules overlying knuckles, elbows, and knees joints
Skin findings
• Heliotrope rash: violaceous poikiloderma eruption in the face accompanied by periorbital edema
Extramuscula • Interstitial lung disease
r • Dysphagia
findings • Myocarditis
• ↑ CPK, aldolase, LDH
• Anti-RNP ,anti-Jo-1, anti-Mi2
Diagnosis • Diagnostic uncertainty
o EMG
o Biopsy (skin/muscle)
• High-dose glucocorticoids PLUS glucocorticoid-sparing agent
Management
• Screening for malignancy

Pediatric Limping
Condition Clinical clues
 Pain at night & resolves by morning
Growing pains
 Affects lower extremities (e.g. thighs, calves), usually bilateral
Legg-Calve-Perthes disease
 Affects boys age 4-10 years
Idiopathic osteonecrosis (avascular necrosis)
 Mild chronic hip or knee pain of insidious onset as well as an antalgic gait
of the femoral head
 Obese adolescents
Slipped capital femoral epiphysis
 Presents with limp and insidious hip pain
 Traction on the apophysis of the tibial tubercle
Osgood-Schlatter disease  Edema and tenderness over the tibial tubercle
 Pain can be reproduced by extending the knee against resistance
 Boys age 3-10 years
 Hip pain, decreased range of motion, and limping
Transient synovitis
 On examination, the affected hip is typically flexed, slightly abducted, and
externally rotated
 Acute fever and inability to bear weight as well as pain, swelling,
Septic arthritis
erythema, and warmth of a single joint
 Most commonly affects the metaphysis of long bones such as the
Osteomyelitis humerus, tibia, and femur.
 Child is ill with fever and systemic symptoms
 Craniotabes ("ping-pong ball" skull)
 Delayed fontanel closure
 Enlarged
Vitamin D deficiency rickets o Skull (frontal bossing)
o Costochondral joints ("rachitic rosary'')
o Long-bone joints (wrist widening)
 Genuvarum (femoral and tibial "bowing")

Growing pains
• Children age 2-12 years
Clinical • Occurs primarily at night & resolves by morning
Features • Affects lower extremities (e.g. thighs, calves), usually bilateral
• Normal physical examination & activity
Treatmen • Parental education & reassurance
t • Massage, stretching exercises, heat & analgesics

96
 Joint Pain (Cont.)
Vitamin D deficiency rickets
• Increased skin pigmentation
• Exclusive breastfeeding
Risk factors
• Inadequate sun exposure
• Maternal vitamin D deficiency
• Craniotabes ("ping-pong ball" skull)
• Delayed fontanel closure
• Enlarged
Clinical
• Skull (frontal bossing)
manifestations
• Costochondral joints ("rachitic rosary'')
• Long-bone joints (wrist widening)
• Genuvarum (femoral and tibial "bowing")
• Osteopenia
X-ray features • Metaphyseal cupping & fraying (Q‫)مهترئ‬
• Epiphyseal widening
• Calcium: Normal to ↓
Serum • Phosphorous: Normal to ↓
laboratory • Alkaline phosphatase: ↑↑
findings • Parathyroid hormone: ↑
• 25-OH vitamin D: ↓

Other
Paget disease of bone
• Most patients are asymptomatic
• Bone pain & deformity
Clinical o Skull: Headache, hearing loss
features o Spine: Spinal stenosis, radiculopathy
o Long bones: Bowing, fracture, arthritis of adjacent joints
• Giant cell tumor, osteosarcoma
Pathogenesi • Osteoclast dysfunction
s • Increased bone turnover
• Elevated alkaline phosphatase
Laboratory
• Elevated bone turnover markers (eg, PINP, urine hydroxyproline)
testing
• Calcium & phosphorus are usually normal
• X -ray: Osteolytic or mixed lytic/sclerotic lesions
Imaging
• Bone scan: Focal increase in uptake
Treatment • Bisphosphonates
PINP = procollagen type I N propeptide

97
 CHILD WITH FEVER
Presentation Differential Workup
Neonatal sepsis  CBC
20-day-old M presents with fever, Meningitis  Electrolytes
decreased breast-feeding, and lethargy.  Blood culture
He was born at 36 weeks as a result of Pneumonia  LP-CSF analysis
premature rupture of membranes  CXR
Pyelonephritis
 UA, urine culture
3 yo M presents with a 2-day history of Acute otitis media
fever and pulling on his right ear. He is URI  CBC, blood culture
otherwise healthy, and his
Meningitis  LP-CSF analysis
immunizations are up to date. His older
 UA, urine culture
sister recently had a cold. The child
attends a day care center. Pyelonephritis

Measles (or other viral exanthem)

Rubella
12 mo M presents with fever for the past Roseola  CBC
2 days accompanied by a maculopapular  Viral antibodies/titers
Fifth disease
rash on his face and body. He has not yet  Throat swab for culture
received the MMR vaccine Varicella  LP-cerebrospinal fluid analysis
Scarlet fever
Meningitis
Gastroenteritis (viral, bacterial, parasitic)
Food poisoning  Stool exam and culture
4 yo M presents with diarrhea, vomiting,
UTI  CBC
lethargy, weakness, and fever. The child
 Electrolytes
attends a day care center where several URI  UA, urine culture
children have had similar symptoms.
Intussusception  Abdominal x-ray
Volvulus

Key History
 Severity, duration;
 Associated localizing symptoms such as rash, wheezing, cough, runny nose, and ear discharge;
 Poor appetite, convulsions, lethargy, sleepiness;
 Sick contacts, day care, immunizations.

Key Physical Exam

 Vital signs;
 HEENT, neck, heart, lung, abdominal, and skin exams.

98
 History Taking Pediatric Sheet
Review of Systems (ROS)
CUB FEVERS:
Cold
Urination
Bowel changes
Fever
Ear pulling
Vomiting
Ear/eye discharges
Rash
Seizures
Antenatal History:
 Was your pregnancy full term (40 weeks or 9 months)?
 Did you have routine checkups during your pregnancy? How often?
 Did you have any complications during your pregnancy/during your delivery/after delivery?
 Was an ultrasound performed during your pregnancy?
 Did you smoke, drink, or use drugs during your pregnancy?
 Was it a vaginal delivery or a C-section?
 Did your child have any medical problems after birth?
 When did your child have his first bowel movement?
Growth and development:
 When did your child first smile? (normally: 0-6 ms)
 When did your child first sit up? (normally: 9-12 ms)
 When did your child start crawling? (normally: 9-12 ms)
 When did your child start talking? (normally: 9-12 ms)
 When did your child start walking? (normally: 12-18 ms)
 When did your child learn to dress himself? ( with help: 2-3 ys; alone: 3-4 ys)
 When did your child start using short sentences? (normally: 18 ms – 2 ys)
Feeding history:
 Did you breast-feed your child?
 When did your child start eating solid food?
 How is your child’s appetite?
 Does your child have any allergies?
 Is your child’s formula fortified with iron?
 Are you giving your child pediatric multivitamins?
Routine pediatric care:
 Are your child’s immunizations up to date?
 When was the date of your child’s last routine checkup?
 Has your child had any serious illnesses?
 Is your child taking any medications?
 Has your child ever been hospitalized?

99
 Clinical Manifestations of Neonatal Sepsis
(including meningitis)
• Temperature instability (fever >38 C [100.4 F] or hypothermia <36 C [96.8 F])
Present in >50% of cases • Poor feeding
• Irritability or lethargy
• Respiratory distress
Present in 25%-50% of • Vomiting
cases • Seizures
• Jaundice
• Apnea
Present in <25% of cases • Cyanosis
• Bulging fontanelle

Neonatal Conjunctivitis
Onset
Type Findings Treatment
age
Mild conjunctival irritation/injection & tearing after silver nitrate ophthalmic
Chemical <24 hr Eye lubricant
prophylaxis
Ceftriaxone (IV/IM)
Gonococca
2-5 days Marked eyelid swelling; profuse purulent discharge; corneal edema/ulceration or
l
Cefotaxime (IV/IM)
Chlamydial 5-14 days Eyelid swelling; chemosis; watery, bloody, or mucopurulent eye discharge Oral erythromycin

Common Oropharyngeal Lesions in Children

Diagnosis Clinical features
Aphthous stomatitis • Recurrent ulcers on anterior oral mucosa (lips, cheeks, mouth floor, ventrum of the tongue)
("canker sores") • No fever or systemic symptoms
• Vesicles & ulcers on posterior oropharynx
Herpangina
• Fever
Herpes • Vesicles & ulcers on anterior oral mucosa & around mouth
gingivostomatitis • Fever
Group A
• Tonsillar exudates
Streptococcal
• Fever, anterior cervical lymphadenopathy
pharyngitis
• Tonsillar exudates
Infectious
• Fever, diffuse cervical lymphadenopathy
mononucleosis
• +/- Hepatosplenomegaly

100
 Herpangina versus Herpetic Gingivostomatitis
Diagnosis Herpangina Herpetic gingivostomatitis
Etiology Coxsackie A virus Herpes simplex virus type 1
Age 3 -10 years 6 months - 5 years
Seasonalit
Summer/early fall None
y
• Fever
• Fever
• Pharyngitis
Clinical • Pharyngitis
• Gray vesicles/ulcers on posterior
features • Erythematous gingiva
oropharynx
• Clusters of small vesicles on anterior oropharynx
• Nontender cervical lymphadenopathy
Treatment Supportive management Oral acyclovir

Croup (laryngotracheitis)
Pathogenesis • Parainfluenza viral infection – inflammation of larynx & trachea
Epidemiolog • Age 6 months to 3 years
y • Fall, early winter
• Inspiratory stridor
Clinical
• "Barky," seal-like cough
features
• Hoarse voice
• Mild (no stridor at rest): corticosteroids
Treatment
• Moderate/severe (stridor at rest): corticosteroids + nebulized epinephrine

Pertussis
• Catarrhal (1-2 weeks): Mild cough, rhinitis
Clinical
• Paroxysmal (2-6 weeks): Cough with inspiratory "whoop," post-tussive emesis
phases*
• Convalescent (weeks to months): Symptoms resolve gradually
• Pertussis culture or PCR
Diagnosis
• Lymphocyte-predominant leukocytosis
Treatment • Macrolides
Prevention • Acellular pertussis vaccine
*Infants may present with apnea

101
 Acute Bacterial Rhinosinusitis
 The most commonly implicated organisms
o Streptococcus pneumoniae (~30%),
Microbiology
o nontypeable Haemophilus influenzae (~30%), and
o Moraxella catarrhalis (~10%)
 Symptoms:
o Nasal drainage, congestion, and cough
 Signs:
Clinical Features o Patients appear ill
o High fevers (>39° C [102.2° F)) and
o Purulent nasal drainage
o Nasal turbinates are red and swollen
• Persistent symptoms ≥10 days without improvement
OR
Diagnostic Features • Severe symptoms, fever ≥39 C (102 F), purulent nasal discharge, or face pain ≥3 days
OR
• Worsening symptoms ≥5 days after initially improving viral upper respiratory infection

Key Respiratory Tract Infections in Children

Diagnosis Classic pathogen Presentation
Laryngotracheitis • Age 6 months to 3 years
• Parainfluenza virus
(croup) • ''Barky" coughing, stridor, hoarse voice
• Unvaccinated children
Epiglottitis • Haemophilus influenzae
• Sore throat, dysphagia, drooling, "tripod" positioning
• Age <2 years
syncytial virus • Respiratory syncytial virus
• Wheezing, coughing

102

X-linked (Bruton)
agammaglobulinemia (XLA)
 Defect in Bruton tyrosine
Pathogenesi
kinase (BTK)
s deficiency
 Defective maturation of B-cells
 Symptoms
o Recurrent infections after
6 months of age
o Increased susceptibility to
encapsulated bacteria
Presentation
(SHiN) and blood-borne
viruses
 Physical exam
o Absent/scant lymphoid
tissues
 ↓ all classes of Ig
Studies  ↓ levels of B-cells
 Normal T-cells
Congenital Immunodeficiency
Severe combined
Chronic granulomatous disease Wiskott-Aldrich Syndrome
immunodeficiency (SCID)
 X-linked defective  Mutation in WAS gene encoding
common gamma chain  Deficiency in NADPH oxidase Wiskott-Aldrich Syndrome protein
 Autosomal recessive  Impaired phagocytosis WATER
Wiskott
adenosine deaminase  Recurrent, severe infections due to catalase-
positive bacterial (e.g. Staphylococcus Aldrich
 Profound lymphopenia, aureus, Serratia) and fungal (e.g. Aspergillus) Thrombocytopenic purpura
 Recurrent infections, and organisms Eczema
 Failure to thrive Recurrent infections
 Symptoms
 Symptoms o Often appear in first year of life with
o Symptoms present recurrent pyogenic infections
before 3 months of o Recurrent infection with catalase-  Recurrent bacterial, viral, fungal
age infections
positive organisms
o Failure to thrive Pneumonias o Bacterial agents Strep. pneumonia,
H. influenza, and N. meningitides
o Recurrent bacterial, Aspergillosis
viral, fungal, and Skin abscesses o Viral agents Varicella and CMV
protozoal infections Pulmonary abscesses o Fungal infections Candida albicans
Chronic diarrhea
o Chronic diarrhea
Ear infections
 Thrombocytopenia
 Physical exam  Recurrent bleeding, especially in first
Osteomyelitis
o Thrush in mouth days of life ,petechiae, purpura, easy
o Failure to thrive bruising, hematemesis, epistaxis,
and diaper area  Physical exam hematuria
o Eczematous o Short stature  Cronic eczema
dermatitis  Hepatosplenomegaly common
o Eczematoid dermatitis
o Absent lymphatic
tissue o Hepatomegaly
o Lymphadenopathy
 Chest radiography
 no thymic shadow
 Normal or ↓ lymphocyte
 Flow cytometry reduction of dihydro-  ↓ number of T- and B-cells
count
rhodamine  ↓ to normal IgG and IgM
 ↓ immunoglobulin levels
 Nitroblue tetrazolium dye reduction test  ↑ IgE and IgA
 Flow cytometry
 ↑ IgG, IgM  Thrombocytopenia
Absent T-cells
Abnormal function
of B-cells
103
104
 Congenital Immunodeficiency (Cont.)
Hyper-IgE Syndrome Common Variable Immunodeficiency
IgA Deficiency Hyper-IgM syndrome
Job syndrome Disorder (CVID)
 Most common primary
Pathogenesi  Defect in the JAK-STAT pathway  Deficient expression of CD40L  Decrease in all immunoglobulins (Ig),
immunodeficiency
s  Defective neutrophil chemotaxis on activated T-helper cells especially IgG and IgM or IgA
 Cause is unknown
 Symptoms
o FATED
Coarse Facies
Cold staphylococcal
 Symptoms  Symptoms
Abscesses  Symptoms
Retained primary o Most = asymptomatic o Recurrent pyogenic
o Severe pyogenic infections
Teeth o Sinus and lung infections 
early in life
sinopulmonary and
↑ IgE gastrointestinal infections
Strep. pneumoniae and
Dermatological other encapsulated
o Chronic diarrhea o Permanent damage to the lungs
problems bacteria o Opportunistic infections, Bronchiectasis
Presentation
o Recurrent upper respiratory o GI infections such as recurrent o Malignancies
infections pneumonia
Giardiasis o Persistent diarrhea
 Physical exam  Increased risk for
o Severe allergies Giardia lamblia
o Eczematoid rash similar to o Hyperviscosity syndrome 
atopic dermatitis
o Atopic dermatitis
(elevated levels of IgM)
Physical exam
o Anaphylaxis with exposure to o Generalized lymphadenopathy
o Skin infections o Malignancies (HCC and
blood products containing IgA carcinoid tumor)
o Splenomegaly
Noninflamed
abscesses on the body
Cool to the touch
o Retained primary teeth
o coarse facies
 ↑ IgE
 ↓ B-cells that produce antibodies
 Normal IgA, IgG, and IgM  ↓ IgA (< 7 mg/dL)
Studies  ↓ IgA, IgG, IgE, and ↑ IgM (plasma cells)
 ↑ eosinophils  Normal IgG and IgM
 ↓ all immunoglobulin classes
 ↓ interferon- γ

105
 CHILDHOOD RASH INFECTIONS
Hand-Foot-and-Mouth Disease
Measles (Rubeola) Rubella (German [3-day] measles) Chicken Pox (Varicella)
Coxsackievirus type A
 Symptoms
o Low-grade fever
o Polyarthritis and polyarthralgia
 Symptoms  Physical exam
o Prodrome o Lymphadenopathy before the  Symptoms
High-grade fever rash o Prodrome
Cough Postauricular  Symptoms Flu-like illness
Conjunctivitis lymphadenopathy is classic o Fever and malaise Low-grade fevers
Coryza o Fine, pink, non-confluent  Physical exam
May have a cough
o Rash maculopapular rash o Asynchronous vesicular rash
Malaise
 Physical exam Starts on face and spreads o Painful oral lesions
Very itchy but not
Presentatio o Koplik spots to trunk and extremities
painful o Skin rash may be painful
n May be itchy 
o Confluent maculopapular rash
Desquamates
Starts on the head and Physical exam
Starts in the head and Rash resolves in 3 days
trunk and spreads to the o Greyish-yellow vesicles or
neck and spreads extremities erythematous papules on the
o Petechial rash on soft palate Eventually develops a palms and soles
downward to trunk
(Forschheimer spots) crust
Initially blanching with o Vesicles and ulcers in oral
pressure in the first few o Orchitis mucosa and around the
days mouth
Excludes palms and soles Congenital rubella syndrome
o Lymphadenopathy  Blueberry muffin
 Cataracts
 Deafness
 Congenital heart disease

 Measles-specific immunoglobulin M
or G  Rubella-specific immunoglobulin M  Tzanck smear  Coxsackievirus-specific
 Reverse transcriptase-polymerase or G  Polymerase chain reaction immunoglobulin A
Studies
chain reaction  Reverse transcriptase-polymerase  Direct fluorescent antibody  Viral culture
 Biopsy of lymph node: Warthin- chain reaction staining
Finkeldey giant cells

106
 CHILDHOOD RASH INFECTIONS (Cont.)
Roseola Infantum Erythema Infectiousum (Fifth Disease) Scarlet Fever
Human herpesvirus-6 (HHV-6) parvovirus B19 Streptococcus pyogenes
 Symptoms
 Symptoms  Prodrome o Sore throat
o High fever for 3 days o Flu-like symptom
o Fever
o May have febrile seizures  Pregnant women
 Physical exam
o No upper respiratory symptoms o Hydrops fetalis and fetal death
o Strawberry tongue
o  Adults
Presentatio
Temporally separated by rash o Circumoral pallor
 Physical exam o Polyarthropathy: small joints (e.g., hands)
n o Diffuse blanching erythema
o Light pink, morbilliform rash that  Children
o Erythema infectiosum 
o Sandpaper-like rash with small papules
develops after the fever resolves 
Spreads from the groin and
Blanching  First rash appears as slapped cheeks
armpits and to the trunk and
Discrete, irregular macules and Subsequent rash is an erythematous maculopapular
extremities
papules rash on the trunk and limbs, which may appear
Spares the palms and soles
Lasts 2 days reticular or lacy
o The rash is followed by desquamation
 Parvovirus-specific immunoglobulin M  Rapid streptococcal testing
Studies  Based on clinical presentation  Polymerase chain reaction  Throat culture may reveal streptococcal
 Anemia pharyngitis

Impetigo
Type Non-bullous Bullous
• Staphylococcus aureus
Microbiology • Group A Streptococcus (S • S aureus
pyogenes)
• Painful non-pruritic pustules
• Rapidly enlarging flaccid bullae with yellow fluid
Clinical features • Honey-crusted lesions
• Cellarette of scale at periphery of ruptured lesions
• Fever is unusual
• Limited skin involvement: Topical antibiotics (e.g., mupirocin)
Treatment
• Extensive skin involvement: Oral antibiotics (e.g. cephalexin, dicloxacillin, clindamycin)

107
 CHILD WITH GI SYMPTOMS
Presentation Differential Workup
1 mo infant is brought in because she Pyloric stenosis  CBC
has been spitting up her milk for the past Partial duodenal atresia  Electrolytes
10 days. The vomiting episodes have  U/S-abdomen
increased in frequency and forcefulness. GERD  Barium swallow
Emesis is nonbloody and nonbilious. The Gastroenteritis  Esophageal pH probe
episodes usually occur immediately after  Endoscopy
Hepatitis
breast-feeding. She has stopped gaining  LFTs, alkaline phosphatase
weight. UTI  UA, urine culture
Hirschsprung disease  Rectal exam
Low-fiber diet  Barium enema
 Suction rectal biopsy
3 yo M presents with constipation. The Anal stenosis  Anorectal manometry
child has had 1 bowel movement per
Hypothyroidism  TSH, FT4
week since birth despite the use of stool
 CBC
softeners. At birth, he did not pass Lead poisoning
 Electrolytes
meconium for 48 hours. He has poor
 Serum lead level
weight gain. There is a family history of
 Anti-tissue
this problem.
Celiac disease  transglutaminase,
 antiendomysial and
 total IgA antibodies
Intussusception
8 mo F presents with sudden-onset Appendicitis  Rectal exam, stool for occult blood
colicky abdominal pain with vomiting.
Meckel diverticulum  CBC
The episodes are 20 minutes apart, and
 Electrolytes
the child is completely well between Volvulus
 Contrast enema
episodes. She had loose stools several Gastroenteritis  U/S-abdomen
hours before the pain, but her stools are
Enterocolitis  CT-abdomen
now bloody.
Blunt abdominal trauma
Colic

2 mo M presents with persistent crying Formula allergy

for 2 weeks. The episodes subside after GERD  Rectal exam, stool for occult blood
passing flatus or eructation. There is no
Lactose intolerance  U/S-abdomen
change in appetite, weight, or growth.
Strangulated hernia  U/S-testicular
There is no vomiting, constipation, or
fever. Testicular torsion
Gastroenteritis
7 yo M presents with abdominal pain Somatoform disorder
that is generalized, crampy, worse in the  CBC
Malingering
morning, and seemingly less prominent  Electrolytes
during weekends and holidays. He has Irritable bowel syndrome  U/S-abdomen
missed many school days because of the Lactose intolerance  Amylase, lipase
pain. Growth and development are  Stool exam
normal. His parents recently divorced. Child abuse

108
Key History
 Onset, location, quality, intensity, duration, radiation, timing (relation to meals);
 Associated symptoms (constitutional, GI, cardiac, pulmonary, renal, pelvic);
 Changes in weight, skin rash, bloody/mucoid stools, change in stool color;
 Exacerbating and alleviating factors;
 History of similar symptoms;
 History of abdominal surgeries;
 Medications;
 Sick contacts, day care, immunizations.

Key Physical Exam

 Vital signs;
 Exam for signs of dehydration (BP, heart rate, mucous membranes, sunken fontanelle, capillary refill time);
 Heart and lung exams;
 Abdominal exam;
 Rectal exam;
 Pelvic exam (women).

109
 Breastfeeding benefits & contraindications
Benefits Contraindications
 Active untreated tuberculosis (mothers may
breastfeed after 2 weeks of anti-tuberculin therapy)
 More rapid uterine involution & decreased  Maternal HIV infection (in developed countries where
postpartum bleeding formula is readily available)
Materna  Faster return to prepartum weight  Herpetic breast lesions
l  Improved child spacing  Varicella infection <5 days prior to or within 2 days of
 Improved maternal-infant bonding delivery
 Reduced risk of breast & ovarian cancer  Specific maternal medications
 Chemotherapy or ongoing radiation therapy
 Active abuse of street drugs or alcohol
 Improved Immunity
 Improved gastrointestinal function
 Prevention of infectious diseases·
o Otitis media
Infant o Gastroenteritis  Galactosemia
o Respiratory illnesses
o Urinary tract infections
 Decreased risk of childhood cancer, type I diabetes
mellitus & necrotizing enterocolitis

Differential diagnosis for a crying infant

Diagnosis Clinical features
Crying that occurs in an otherwise healthy infant for ≥3 hours daily (usually evening), ≥3 times a
Colic
week & for a duration of ≥3 weeks
• Arching of the back during or after feeding (Sandifer syndrome)
Gastroesophageal reflux
• Frequent spit-ups or vomiting
disease
• Poor weight gain
Corneal abrasion Positive fluorescein examination
Hair tourniquet Presence of hair that is accidentally tied or wrapped around an extremity or digit
Milk protein allergy Blood-streaked, mucousy, loose stools or severe constipation
• Intermittent crying that resolves with usual consoling methods
Normal infant crying
• Duration <2 hours a day

Infantile colic
Definition Excessive crying for ≥3 hours a day, ≥3 days a week, over a period of ≥3 weeks in an otherwise healthy infant
First few weeks of life and resolves spontaneously by age 4 months.
Timing
Crying generally occurs at the same time of the day, typically early in the evening
Causes Unknown
Review feeding pattern to assess if there is overfeeding, underfeeding, or an inadequate burping technique.
Calming techniques include
Management Infant swing,
s Swaddling,
Minimizing environmental stimuli (e.g. quiet dark room), and
Holding and rocking the baby.

110
 Constipation in children
• Initiation of solid food & cow's milk
Risk factors • Toilet training
• School entry
• Straining with passage of hard stools
Clinical presentation • Crampy abdominal pain
• ≤2 defecations/week
• Anal fissures
• Hemorrhoids
Complications • Encopresis
• Enuresis/urinary tract infections
• Vomiting
• Increase dietary fiber
• Limit cow's milk intake to <24 oz
Treatment
• Laxative (e.g. polyethylene glycol, mineral oil)
• +/- Suppositories, enema

Evaluation of Bilious Emesis in the Neonate

Bilious Emesis

Stop Feeds ●
NG tube decompression ●
IV fluids ●

Abdominal X-ray

,Free air NG tube in

Dilated loop or Double bubble
misplaced
,Hematemesis bowel sign
duodenum
Unstavle vital signs

Contrast enema Upper GI series Duodenal atresia

Surgery

Rectosigmoid Ligament of Treitz

Microcolon on right side of
transition one
abdomen

Hirschsprung
Meconium ileus Malrotation
disease

111

Sources of exposure
Screening in high-risk pediatric
populations
Clinical features
Lead Poisoning
 Battery manufacturing, metallurgy, corrosion inhibition
 Gun range
 Tableware containing lead
 Drinking water (from lead plumbing or contaminated sources )
 Antique or imported toys painted with lead-containing paint
Many children are asymptomatic and should be assessed for blood lead levels if they have risk
factors
 Living in older housing under renovation or with peeling paint
 Sibling or playmate with lead poisoning
 Recent immigrant, refugee, or foreign adoptee
 History of pica
 Polyneuropathy, encephalopathy, headache, fatigue, muscle weakness,
paresthesias, delirium, seizures
Nervous
system
 Paralysis of the radial or peroneal nerve (wrist/foot drop)
 Cognitive impairment, memory loss
 Acute encephalopathy: persistent vomiting, ataxia, seizures, coma
Kidneys  Nephropathy, renal cell carcinoma
Red blood
cells  Symptoms of anemia

 Purple-bluish line on the gums (lead line or Burton line)

 Severe abdominal pain (lead colic)
Ot
her
 Constipation
 Hypertension
 Miscarriages, infertility.
 Blood lead level (BLL) measurement
Diagnosis  Basophilic stippling of erythrocytes on peripheral blood smear
 Microcytic, hypochromic anemia
 Decrease exposure: professional lead paint abatement, dust reduction, minimization of
contact with bare soil
 Nutrition: Calcium, iron, zinc, and vitamins C and D-rich diet
 Chelation therapy indications:
Treatment o Oral succimer with/without intravenous or intramuscular CaNa2EDTA (Calcium
disodium ethylenediamine tetraacetic acid)
 Children with BLL ≥ 45 μg/dl
 Asymptomatic adults with BLL ≥ 80 μg/dl
 Symptomatic adults with BLL ≥ 50 μg/dl

112
 Differential diagnosis of regurgitation & vomiting in infants
Diagnosis Clinical features Management
• Physiologic
• Reassurance
o Asymptomatic
• Positioning therapy
o "Happy spitter"
Gastroesophageal
• Pathologic (GERD) • Thickened feeds
reflux
0 Failure to thrive • Antacid therapy
0 Significant irritability • If severe, esophageal pH probe monitoring &
o Sandifer syndrome upper endoscopy
• Regurgitation/vomiting
Milk protein • Elimination of dairy & soy protein from diet
• Eczema
allergy • Switched to a hydrolyzed formula
• Bloody stools
• Projectile nonbilious vomiting
• Abdominal ultrasound
Pyloric stenosis • Olive-shaped abdominal mass
• Pyloromyotomy
• Dehydration, weight loss

Milk- or soy-protein-induced colitis

(Milk protein allergy)
Risk factors • Family history of allergies, eczema, or asthma
• Presents at age 2-8 weeks
Clinical • Regurgitation or vomiting
features • +/-Painless bloody stools
• +/-Eczema
• Elimination of milk & soy from maternal diet of exclusively breastfed infants
Treatment
• Initiation of hydrolyzed formula in formula-fed infants
Prognosis • Spontaneous resolution by age 1 year

Infantile hypertrophic pyloric stenosis

• First-born boy
Risk factors • Erythromycin
• Formula feeding
• At age 3-6 weeks
• Projectile nonbilious emesis
Clinical presentation • Poor weight gain
• Dehydration
• " Olive-shaped" abdominal mass
laboratory • Hypochloremic metabolic alkalosis
Diagnostic studies • Abdominal ultrasound
• Intravenous rehydration
Treatment
• Pyloromyotomy

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 Intussusception
 Viral infections (e.g. Rota virus gastroenteritis)
Triggering  Meckel's diverticulum,
factors  Polyps and
 Hematomas (Henoch-Schönlein purpura)
 Symptoms
o Periodic pain associated with drawing the legs up toward the abdomen.
o Emesis may follow episodes of abdominal pain.
Clinical Picture o It is initially nonbilious but becomes bilious as the obstruction persists.
o Grossly bloody "currant jelly" stools.
 Signs
o Palpable "sausage-shaped" mass in the right upper quadrant.
Workup  Ultrasound: "target sign"
 Air or water-soluble contrast is instilled through the rectum.
Management
 Laparotomy is indicated if enema reduction is ineffective.

Meckel's diverticulum
Rule of 2s
• 2% prevalence
Epidemiology • 2:1 male-to-female ratio
• 2% are symptomatic at age 2
• Located within 2 feet of the ileocecal valve
• Asymptomatic incidental finding
• Painless hematochezia
Clinical presentation • Intussusception
• Intestinal obstruction
• Volvulus
Diagnosis Technetium-99m pertechnetate scan
Treatment Surgery for symptomatic patients

Cyclic Vomiting Syndrome

• ≥3 episodes in a 6-month period
• Easily recognizable to family (stereotypical)
Diagnostic • Lasts 1-10 days
Criteria • Vomiting ≥4 times/hr at peak
• No symptoms in between vomiting episodes
• No underlying condition can be identified
Risk Factors Family history of migraines
Hydration, antiemetics (eg, ondansetron), and reassurance of the parents
2/3 children with CVS have gradual resolution of their symptoms in 5-10 years
Treatment
Children with a family history of migraines are likely to benefit from anti-migraine therapy such as
sumatriptan.

114
 Breastfeeding failure jaundice vs breast milk jaundice
Diagnosis Timing Pathophysiology Clinical features
Lactation failure resulting in:  Suboptimal
Breastfeeding breastfeeding
First week of life • Decreased bilirubin elimination
failure jaundice  Signs of
• Increased enterohepatic circulation dehydration
 Adequate
Starts at age 3-5 High levels of β-glucuronidase in breast milk
breastfeeding
Breast milk jaundice days; peaks at 2 deconjugate intestinal bilirubin & increase
 Normal
weeks enterohepatic circulation
examination

Biliary atresia
Initially well-appearing, followed by development of the following over 1-8 weeks:
• Jaundice
Clinical • Acholic (pale) stools or dark urine
features • Hepatomegaly
• Conjugated hyperbilirubinemia
• Mild elevation in transaminases
• Ultrasound: absent or abnormal gallbladder
• Hepatobiliary scintigraphy: failure of tracer excretion
Diagnosis • Liver biopsy: expanded portal tracts with bile duct obstruction & proliferation; portal tract edema,
fibrosis & inflammation
• Intraoperative cholangiogram (gold standard): biliary obstruction
• Hepato-porto-enterostomy (Kasai procedure)
Treatment
• liver transplant

Biliary cysts (Choledochal cyst)

Pathogenesis • Type I cysts (most common): extrahepatic, single cystic dilatation of the bile duct
• Classic triad of pain, jaundice & palpable mass
Clinical manifestations
• Majority of cysts present at age <10 years
• Visualization on ultrasonography
Diagnosis
• ERCP
Treatment • Surgical resection to relieve obstruction & prevent malignant transformation

115
 Celiac disease
• First-degree relative with celiac disease
• Autoimmune thyroiditis
Risk
• Type I diabetes
factors
• Down syndrome
• Selective lgA deficiency
• Gastrointestinal
o Abdominal pain
o Nausea &/or vomiting
o Diarrhea (rarely, constipation)
Symptoms o Flatulence & bloating
• Extraintestinal
o Short stature & weight loss
o Iron deficiency anemia
o Dermatitis herpetiformis
• ↑ Tissue transglutaminase lgA
Diagnosis • ↑ Anti -endomysial antibodies
• Duodenal biopsy showing ↑ intraepithelial lymphocytes & flattened villi

Features of malabsorption in celiac disease

Nutrient Symptoms
General Bulky, foul-smelling, floating stools
Fat & protein Loss of muscle mass, loss of subcutaneous fat, fatigue
Iron Pallor (anemia), fatigue
Calcium & vitamin
Bone pain (osteomalacia), fracture (osteoporosis)
D
Vitamin K Easy bruising
Vitamin A Hyperkeratosis

Key Features of Somatic Symptom & Related Disorders

Somatic symptom
1. Excessive anxiety & preoccupation with ≥1 unexplained symptoms
disorder
2. Illness anxiety disorder Fear of having a serious illness despite few or no symptoms & consistently negative evaluations
Conversion disorder
Neurologic symptom incompatible with any known neurologic disease; often acute onset
3. (functional neurologic associated with stress
symptom disorder)
4. Factitious disorder Intentional falsification or inducement of symptoms with goal to assume sick role
Falsification or exaggeration of symptoms to obtain external incentives "‫( "دوافع‬secondary gain)
5. Malingering
e.g. avoiding work, receiving financial compensation, evading arrest, obtaining drugs

116
 CHILD WITH RED EYE
Presentation Differential Workup
Bacterial conjunctivitis
3 yo F presents with a 3-day history of Viral conjunctivitis Ophthalmoscopic eye exam
"pink-eye". It began in the right eye but CBC
Allergic conjunctivitis
now involves both eyes. She has mucoid Electrolytes
discharge, itching, and difficulty opening Keratitis
Discharge cultures
her eyes in the morning. Her mother had Uveitis Slit lamp exam
the flu last week. She has a history of
asthma and atopic dermatitis. Orbital cellulitis CT-orbit
Preseptal cellulitis

Key History
 Onset, location, duration, affecting one or both eyes;
 Eye discharge, itching, pain, photophobia, tearing;
 Associated symptoms (constitutional, dermatologic, GI, cardiac, pulmonary, renal, pelvic, rheumatologic);
 Exacerbating and alleviating factors;
 Medications;
 Sick contacts, day care, immunizations;
 History of similar symptoms.

Key Physical Exam

 Vital signs;
 HEENT exam.

117
 CHILD WITH SHORT STATURE
Presentation Differential Workup
Constitutional short stature CBC with differentials
14 yo M presents with short stature and Growth hormone (GH) deficiency Electrolytes
lack of sexual development. His birth GH stimulation test
weight and length were normal, but he is Hypothyroidism
IGF-l, IGFBP-3 levels
the shortest child in his class. His father Chronic renal insufficiency
TSH, FT4
and uncles had the same problem when
they were young, but they are now of XR-hand
normal stature. Genetic causes U/S-renal and cardiac
BUN/Cr

Key History
 Associated symptoms (constitutional, GI, cardiac, pulmonary, renal, pelvic, endocrine);
 Medications;
 Prenatal and birth history, growth history;
 Past medical history;
 Family history;
 Cognitive abilities, school performance.

Key Physical Exam

 Vital signs;
 Height, weight;
 HEENT, heart, lung, abdominal, and neurologic exams .

118
 Normal growth in infants and young children
Early Developmental Milestones
Cognitive Self-care
Gross motor milestones Fine motor milestones Social milestones Language milestones
milestones milestones
 Eyes follow  Social smile
2nd  Raises chest and shoulders (in
 N/A objects past  Recognizes mother's  Coos  N/A
month prone position)
midline voice
 Rolls over from front to back
 Props himself/herself up on  Reaches for  Localizes sound (turns
4th
 Shakes rattle when  Smiles at pleasurable
wrists in prone position objects head toward sound)  N/A
month placed in palm sounds/sights
 Head does not lag when pulled persistently  Laughs out loud
into sitting position
 May start responding to
 Sits with a curved back with arms  Recognizes primary his/her name
5th
 Intentionally grabs
supporting the trunk (parachute  N/A care giver on seeing  Squeals  N/A
month objects (e.g., cube)
position) them  Expresses anger (without
crying)
 Regards self in mirror  Babbles
 Transfers objects
6th  Sits without support and vocalizes  Starts speaking in  Attempts to feed
from one hand to  N/A
month  Rolls over from back to front  Differentiates familiar monosyllables (“ma,” self
another
and unfamiliar faces “ba,” “ah”)
 Responds to his/her  Holds own bottle
8th  Looks for name  Feeds self small
 Commando crawls  Scissor grasp  N/A
month dropped objects  Responds to simple foods (e.g.,
commands cereal)
 Stranger anxiety may
start  Speaks in bisyllables
9th  Pulls himself/herself up to stand
 Pincer grasp  N/A  Separation anxiety  Says mama and dada; but  N/A
month  Begins to crawl
may start non-specific
 Waves goodbye
 Crawls well  Can sip from a
10th  Says mama, dada
 Cruises (walks while holding on  N/A  N/A  Enjoys peek-a-boo cup held for him
month specifically
to objects for support) or her

119
 Early Developmental Milestones (Cont.)
Gross motor Fine motor
Cognitive milestones Social milestones Language milestones Self-care milestones
milestones milestones
 Follows one-step commands
12th  Walks with support  Puts block in a  Gives/shares objects with
 Imitates others with gesture (e.g., hands up)  N/A
month (holding hands) cup others
 Knows 1–3 words
 Builds stack of
15 2 blocks  Follows commands  Uses a spoon to
 Walks backwards  N/A  Helps in house-work
months  Scribbles (  Knows 3–6 words feed him- or herself
‫)يشخبط‬
 Builds stack of
18
 Runs 4 blocks  N/A  Has temper tantrums  Knows 6 words  N/A
months
 Kicks ball
 Exhibits selfish behavior;
 Walks up and down  Builds stack of  Speaks in 2-word sentences
says “No, mine!”
2 years stairs 6 blocks  N/A  Knows some parts of the body  N/A
 Comforts others
 Kicks a ball  Copies a line (e.g., eye, nose, mouth)
(empathy)
 Separates easily from
parents
 Builds stack of  Understands gender
 Initiates interaction with  Speaks in 3-word sentences
3 years  Pedals a tricycle 8 blocks difference  N/A
other children  Mostly intelligible speech
 Copies a circle  Toilet trained
 Role plays “house”,
“doctor”, etc.
 Copies a  May have imaginary  Tells complex stories
4 years  Hops on one foot  Play cooperatively  Dresses oneself
square friends  Names colors
 Copies a
 Skips
triangle  Understands  Can count
5 years  Catches a ball  N/A  N/A
 Can lace up opposites  Intelligible speech
 Doing a somersault
shoes

120
 Normal growth in infants and young children
Growth charting
Growth charts are used to calculate a child's growth percentile by plotting the weight and height of the child on
standardized charts.
Normal weight-for-age velocity
o Term neonates lose up to 10% of their birth weight in the first few days after delivery; birth weight is normally
regained within 2 weeks
o Birth weight should double by 4 months of age and triple by one year of age
Normal height-for-age velocity
o From birth to 6 months: 2.5 cm (1 in) per month
o From 6 months to 1 year: 1.3 cm (0.5 in) per month
o Height at 1 year of age should be ∼ 50% more than the birth height
Weight-for-height: useful in detecting malnutrition in children < 5 years of age
Head circumference-for-age
o Normal growth
From birth to 3 months: 5 cm
3–6 months: 4 cm
6–9 months: 2 cm
9–12 months: 1 cm
o All children should be evaluated for microcephaly and macrocephaly during the first 3 years of life.
Microcephaly: An abnormally small head with a circumference that is < 2 standard deviations below the mean
size for a given age and sex (usually < 3rd percentile).
 Occurrence:
1. Chromosomal trisomies,
2. Fetal alcohol syndrome,
3. Congenital TORCH infections,
4. Cranial anatomic abnormalities,
5. Neural tube defects
Macrocephaly: An enlarged head with a circumference that is ≥ 2 standard deviations above the mean size for a
given age and sex (usually ≥ 97th percentile).
 Occurrence:
1. Hydrocephalus,
2. Neurofibromatosis,
3. Tuberous sclerosis,
4. Skeletal dysplasia,
5. Acromegaly,
6. Intracranial hemorrhage,
7. Cerebral metabolic diseases (e.g., Tay-Sachs disease, maple syrup urine disease).

121
 Infant nutrition and weaning
Breastfeeding

 Exclusive breast feeding is recommended until the infant is 6 months of age

 On-demand feeds are recommended

Advantages of breastfeeding

o Better gastrointestinal function and motility

o Passive immunity against infections → lower rates of gastrointestinal, respiratory, urinary tract, and middle-ear
infections/sepsis

o Long-term benefits: lower risk of obesity, cardiovascular diseases, diabetes mellitus, cancer (leukemia, lymphoma);
possibly also asthma and allergies (controversial)

Formula feeds

 Supplementation with formula only recommended if

o > 7% loss of birth weight occurs in the first 10 days

o Neonatal urine output is decreased

o Neonatal stool output is decreased (< 3 small stools per day)

o Maternal breast milk production is inadequate

o Breastfeeding is contraindicated

 Any lactose protein-based formula fortified with iron is recommended

Supplementation

 Vitamin D supplementation

o Exclusively breast-fed infants should receive vitamin D supplementation daily

o Vitamin D supplementation can be stopped once the infant is started on vitamin D fortified cow's milk (usually after
1 year of age)

o Infants on vitamin-D fortified formula feeds do not require further supplementation

 Iron supplementation

o In premature infants (they have lower iron stores and increased demands)

o Should be supplemented daily until 6 months of age to avoid iron deficiency anemia

 Vitamin B12 supplementation: if the mother is vegan

Weaning

 Solid foods should be slowly initiated in infants between 4–6 months of age, with continued breast/formula
feeding

122
 The recommended initial weaning food is rice cereal fortified with iron (Since it is hypoallergenic, easily
digestible, and a good source of iron)

 Honey should not be given to infants because of the risk of botulism.

123
 Failure to thrive (FTT)
Definition

 Inadequate growth of a child for his/her age

 Seen in up to 10% of children in the United States (most < 18 months of age)

 History of intrauterine growth restriction, prematurity, and low birth weight are risk factors for the development
of FTT.

Etiology

 Nonorganic FTT: no underlying disorder (∼ 90% of cases)

 Organic FTT: due to an underlying disorder (∼ 10% of cases)

o Inadequate intake of calories [E.g., problems with breast feeding (e.g., cleft palate and cleft lip), gastroesophageal
reflux]

o Inadequate absorption of calories [E.g., food allergies, malabsorption, congenital hypertrophic pyloric stenosis,
inborn errors of metabolism, inflammatory bowel disease, celiac disease (in older children)]

o Excessive loss of calorie [E.g., due to hyperthyroidism, chronic pulmonary/cardiac/renal disease, chronic infection,
malignancy]

Clinical features

 Red flag features of organic FTT

o Developmental delay

o History of recurrent vomiting and diarrhea

o History of recurrent infections

o Failure to gain weight despite adequate feeds [Suggestive of an underlying organic disorder (e.g., hyperthyroidism,
cardiac failure, malignancy)]

o Abnormal physical examination (e.g., lymphadenopathy, edema, cardiac murmur, organomegaly)

 Anthropometric criteria of FTT

o Weight-for-age: < 5th percentile

o Length-for-age: < 5th percentile

o Body mass index-for-age: < 5th percentile

o Deceleration of weight velocity that crosses 2 major lines on the growth chart

Diagnostics

 History of feeding habits (e.g., quantity of feeds, frequency of feeds, food refusal)

 Laboratory studies

124
 o Complete blood count and ESR

o Urinalysis

o Liver and renal function tests

o Thyroid function tests

o Tests for HIV, tuberculosis, and immunoglobulin levels

 Imaging

o Chest x-ray

o Echocardiogram

o Upper gastrointestinal series with small bowel follow-through

Well-child examination
 Definition: a preventive health care schedule for children to promote health or detect and treat a disease early

 Schedule

o 3–5 days after birth; examinations performed in hospital before discharge

o At 1, 2, 4, 6, 9, and 12 months

o After the first year, well-child examination schedule is carried out at 15, 18, 24, and 30 months; then annually until
the child is 10 years old.

125
 Short stature
Definition
 Short stature: height of 2 or more standard deviations below the mean for children of the same age,
sex, and, ideally, race and ethnicity; or an adult height of 4'10″ (147 cm) or less

 Proportionate short stature: limbs proportionate to trunk; seen in most cases of familial short stature

 Disproportionate short stature: limbs disproportionately short compared to trunk; seen mostly in
cases of skeletal dysplasia

 Growth failure: growth rate below normal

Height is usually increased by 50% at 1 year of age, doubles at 4 years of age, and triples at 13 years of age

Diagnostics
 Evaluation of possible causes (see “Causes of short stature” below)
o Family history
o CBC, differential blood count, ESR
o Thyroid function tests
o Renal function tests and urinalysis
o Screening for GH deficiency; IGF-l, IGFBP-3 levels (Consider additional cranial MRI if hypothalamic or pituitary tumors
are suspected)
o Hormone profile to assess puberty status (LH, FSH, estrogen/testosterone)
o Genetic karyotyping

 X-ray
o Anterior posterior image of left hand and wrist
o Bone age is determined and adult height is predicted by comparing x-ray images of the hand to images of bones in a
standard atlas of bone development, which is based on data from large numbers of other children of the same age
and gender

126

Causes of short stature
Familial short stature
Non-pathological Constitutional growth delay
Idiopathic short stature
Prenatal disorders
Congenital hypothyroidism
Pseudohypoparathyroidism (Albright
hereditary osteodystrophy)
Growth hormone (GH) deficiencies
Endocrine
Congenital adrenal hyperplasia
Glucocorticoid excess
Gastrointestinal Inflammatory bowel disease
disease Celiac disease
Pulmonary
disease
Asthma
Cystic fibrosis
Causes of short stature
Pathophysiology Specific features
 Inheritance of parental short stature (Growth is parallel to the 3rd or  Normal development; skeletal age
5thpercentile) consistent with chronological age
 Usually history of one or both parents with delayed development
 Delayed skeletal age and onset of puberty
(delayed puberty); normal adult height
 Diagnosis of exclusion in the absence of an underlying condition
 Height of at least 2 standard deviations
below the mean for age
 Embryo-fetal alcohol syndrome (short
 Embryopathies caused by noxious substances such as alcohol or
stature, facial stigmata, intellectual
nicotine
disability)
 Untreated children develop cretinism
 Sporadic thyroid dysplasia or aplasia or hereditary defects in thyroid
(delayed skeletal age, short stature,
hormone synthesis or peripheral resistance to thyroid hormones
intellectual disabilities)
 Short stature, obesity, round face,
 PTH resistance (autosomal dominant inheritance)
subcutaneous ossification, brachydactyly
 Growth retardation
 Caused by hypopituitarism
 ↓ bone density and muscle atrophy
 Vomiting and dehydration during first
weeks of life
 21β-hydroxylase deficiency
 Temporary above average stature but
adult stature below average
 Cushing's disease is rare in children.
 Excessive-weight-for-height
 More often due to glucocorticoid therapy (can cause Cushing's  Cushingoid features
syndrome):
 Decreased food intake (undernourishment), malabsorption  Poor-weight-for-height
 Rate of short stature in atopic children 2–
 Due to side effects of glucocorticoid therapy of asthma
5 times higher than normal
 Mutated CFTR gene (defective chloride channel) → accumulation of  Poor food intake
secretions and blockage of exocrine glands → chronic inflammation →  Maldigestion and malabsorption
127
  Chronic infections, increased energy
damage of bowel and lungs
requirements

128
 Causes of short stature (Cont.)
Causes of short stature Pathophysiology Specific features
Metabolic Diabetes mellitus type 1  Severe glucosuria → caloric deficit  Excessive thirst and urination
diseases Rickets  Vitamin D deficiency → hypophosphatemia  Abnormal epiphyseal development, and bowing of the extremities
 Mineral bone disorder  Polyuria with mineral loss
Renal disease (chronic renal failure)  Abnormalities in the GH/IGF-1 system  Anemia of chronic kidney disease
 Chronic anemia due to reduced EPO production  Rickets (bone deformities, impaired growth)
Cardiac disease and chronic oxygen  Severe cases of anemia (e.g., sickle cell anemia,
deficiency
 Anorexia and increased energy requirements
thalassemia), cyanotic heart defects
 Chronic inflammation of joints
Rheumatological diseases (juvenile arthritis)  Also due to side effects of long-term high-dose  Stiffening, deformation of joints and growth retardation
glucocorticoid therapy of juvenile arthritis
HIV  Anorexia
Immunologic
diseases
 Severe immunodeficiency  Malabsorption, diarrhea
SCID
 Severe infections, and organ failure (e.g., HIV wasting syndrome)
Turner syndrome
Down syndrome
Williams syndrome
Genetic Fanconi syndrome  Vary  Varying degrees of skeletal abnormalities with short stature
Skeletal dysplasias
(achondroplasia, osteogenesis
imperfecta)
 Nausea, and vomiting as a result of cancer and
further induced by chemotherapy and radiotherapy
 Mass effect of hypothalamic or pituitary tumors →
Neoplasms GH deficiency  Growth deficit due to poor appetite
 Radiation therapy can damage:
 Hypothalamus or pituitary glands → GH deficiency
 Thyroid gland → primary hypothyroidism
Psychosocial and psychological  Childhood neglect/deprivation and abuse  Signs of neglect: poor growth or weight gain, poor hygiene, poor
 Anorexia nervosa, depression record of school attendance and medical care, abnormal parent–
child interaction

129
 Behavioral changes: e.g., apathy, anxiety, inattentiveness, aggression
 Also see child abuse.

130
 Precocious Puberty
Central versus peripheral precocious puberty

131
 BEHAVIORAL PROBLEMS IN CHILDHOOD
Presentation Differential Workup
9 yo M presents with a 2-year history Attention-deficit hyperactivity
of angry outbursts both in school and disorder (ADHD)
at home. His mother complains that Physical exam
Oppositional defiant disorder
he runs around "as if driven by a
Conduct disorder Mental status exam
motor." His teacher reports that he
cannot sit still in class, regularly TSH, FT4
Manic episode
interrupts his classmates, and has
trouble making friends. Hyperthyroidism

12 yo F presents with a 2-month Adjustment disorder

history of fighting in school, truancy, Substance intoxication, abuse, or
and breaking curfew (‫)حظر التجول‬. Her Physical exam
dependence
parents recently divorced, and she
Oppositional defiant disorder Mental status exam
just started school in a new district.
Before her parents divorced, she was Urine toxicology
Conduct disorder
an average student with no
behavioral problems. Manic episode

15 yo M presents with a 1-year Substance abuse

history of failing grades, school Conduct disorder
absenteeism (‫)غياب‬, and legal Urine toxicology
problems, including shoplifting. His Oppositional defiant disorder
Physical exam
parents report that he spends most of
his time alone in his room, adding Mental status exam
that when he does go out, it is with a Adjustment disorder
new set of friends.
5 yo M presents with a 6-month Age-appropriate behavior
history of temper tantrums that last 5 ADHD
to 10 minutes and immediately follow
a disappointment or a discipline ( Physical exam
‫عقوبة‬/‫تربية‬/‫تهذيب‬/‫)تأديب‬. He has no
Mental status exam
trouble sleeping, has had no change Oppositional defiant disorder
in appetite, and does not display
these behaviors when he is at day
care.

Key History
 Onset, severity, duration, triggers;
 Physical violence or use of weapons;
 Substance use, developmental history, changes in environment or school performance;
 Change in personality, anhedonia.

Key Physical Exam

 Vital signs;
 Neurologic exam.

132
 Childhood Disorders

Attention-Deficit Hyperactivity Disorder

 ≥6 inattentive &/or ≥6 hyperactive/impulsive symptoms for ≥6 months
 Several symptoms present before age 12
DSM-5  Symptoms occur in at least 2 settings (home, school, peer relations)
criteria  Functional impairment (social, academic)
 Subtypes:
o Predominantly inattentive, predominantly hyperactive/impulsive, combined type

 No attention to detail; makes careless mistakes

 Difficulty focusing (e.g. games, tasks, reading, lectures)
 Does not appear to listen when spoken to
Inattention  Cannot follow instructions, gets sidetracked, unable to finish tasks
 Difficulty organizing tasks (disorganized work, poor time management)
symptoms  Avoids tasks requiring sustained concentration
 Loses/misplaces objects required to perform tasks (e.g. books, phone, keys)
 Easily distracted by extraneous stimuli
 Forgetful (chores, appointments)
 Fidgets (‫)تململ‬
 Difficulty staying seated
 Runs or climbs inappropriately
Hyperactivity/impulsivity  Cannot perform activities quietly
 Physically active all the time (as if driven by a motor)
symptoms  Talks constantly
 Blurts out answers, completes others' sentences
 Difficulty awaiting tum (e.g. in line)
 Interrupts/intrudes when others are busy or speaking
 Oppositional defiant disorder (‫)اضطراب المعارض المتحدي‬
o This disorder is characterized by a pattern of angry/irritable mood and
argumentative/defiant behavior toward authority figures.
o These patients are temperamental and hostile and defiantly break rules.

 Conduct disorder
o Involves behaviors that violate major societal norms or the rights of others (e.g.
Differential Diagnosis aggression, property destruction, theft, deceitfulness, & rule violations).
 Disruptive mood dysregulation disorder
o Involves severe, pervasive irritability and poor frustration tolerance, resulting in
frequent temper outbursts
 Learning disorder
o May appear inattentive due to frustration but do not have difficulties apart from
the academic setting
 Stimulants (methylphenidate, amphetamines)
Treatment  Non-stimulants (atomoxetine, alpha-2 adrenergic agonists)
 Behavioral therapy

133
 Childhood Disorders (Cont.)

Autism Spectrum Disorder

 Deficits in social communication & interactions with onset in early development
o Sharing of emotions or interests
o Nonverbal communication
o Developing & understanding relationships
Clinical  Restricted, repetitive patterns of behavior
features o Repetitive movements or speech
o Insistence on sameness/routines
o Intense fixated interests
o Adverse responses to sensory input
 May occur with or without language & intellectual impairment
Your response to  Difficulties with social relationships can have an impact on psychological development;
patents further evaluation will be helpful
Assessment &  Early diagnosis & intervention
management  Comprehensive, multimodal treatment (speech, behavioral therapy, educational services)
principles  Adjunctive pharmacotherapy for psychiatric comorbidities

 Attention-deficit hyperactivity disorder

 Intellectual disability
o Intellectual disability should not be diagnosed in children age <5 or in those unable to
participate in standardized testing
 Language disorder (deficits in comprehension or production)
o Presents in early childhood and can be difficult to diagnose due to considerable
variability in language acquisition before age 4.
o However, nonverbal communication (e.g. eye contact) should be normal

 Selective mutism
Differential o The child refuse to speak in a specific social situation but engage in normal
Diagnosis communication in situations in which she feels comfortable (e.g. at home with siblings)
o The diagnosis requires consistent (≥1 month) failure to talk in situations in which it is
expected (e.g. school) despite speaking in other situations
 Social (pragmatic) communication disorder
o Characterized by impaired communication without evidence of restricted interests or
repetitive behavioral patterns
 Adjustment disorder
 Generalized anxiety disorder
o Involves persistent worry, anxiety, and tension regarding multiple issues and situations
(e.g. school, social acceptance, finances, & safety)
 Separation anxiety disorder.
o Children with this disorder have extreme and persistent anxiety with separation and
excessive worry about losing major attachment figures.
o They may have physical symptoms (e.g. stomach aches, headaches), repeated
nightmares involving the theme of separation, difficulty sleeping alone, and school
refusal
 Stranger anxiety
o Is the fear of being around unknown people rather than fear of separation from parents
and can occur with the parents in the room.
o It is developmentally appropriate beginning around age 6-12 months

134
 Childhood Disorders (Cont.)

Conduct Disorder
 Pattern of violating major societal norms & rights of others for ≥1 year
Clinical  Aggression & cruelty toward people & animals
 Destruction of property, setting fires
features  Serious violation of rules (truancy, running away)
 Deceitfulness or theft (lying, stealing)
 Attention-deficit hyperactivity disorder
 Kleptomania
o The child is unable to resist the impulse to steal objects that are of low monetary value or
not needed for personal use.
o Overwhelming feelings of tension or anxiety precede impulses and are relieved with the
act of theft
 Pyromania
DSM-5 diagnosis
Differential o Deliberate fire setting on more than 1 occasion
Diagnosis o Tension, arousal prior to act
o Fascination (‫ )افتتان‬with fire & its consequences
o Pleasure or relief when setting/witnessing fires
o No external gain, revenge, or political motivation; not done to attract attention
o Not better explained by conduct disorder, manic episode, psychosis, antisocial personality
disorder, or impaired judgment (neurocognitive disorder, substance intoxication)
 Oppositional defiant disorder
o Compared to conduct disorder, the symptoms of oppositional defiant disorder are less
severe and do not include stealing or aggression toward people
 Substance abuse
 Cognitive-behavioral therapy, family therapy
Treatment
 Parent management training

Tourette Disorder
 Both multiple motor & one or more vocal tics (not necessarily concurrent, >1 year)
o Motor: Facial grimacing, blinking, head/neck jerking, shoulder shrugging, tongue
DSM-5 protrusion, sniffing
o Vocal: Grunts, snorts, throat clearing, barking, yelling, coprolalia (obscenities)
 Onset before age 18
Comorbid  Obsessive-compulsive disorder and
conditions  Attention deficit hyperactivity disorder
 Antipsychotics
Treatment  Alpha adrenergic receptor agonists (e.g. clonidine, guanfacine)
 Behavioral therapy

135
 Health Maintenance
Screening for hypertension
Starting Age All adults 18 years of age and older
Frequency Every 2 years for adults with a normal BP, and 1 year for adults with prehypertension.
Screening for hyperlipidemia
All men ≥35 and women ≥45
Starting Age Or at increased risk for CAD: men aged 20 to 35 and women aged 20 to 45
Risk of CAD (e.g., smokers, diabetic patients, family history of CAD, HTN).
Frequency Every 4 to 6 years
Measure a non-fasting total cholesterol and HDL cholesterol
o If total cholesterol is <200 mg/dL and HDL is >35 mg/dL, repeat screening in 5 years
Tool
o If total cholesterol is >240 mg/dL or between 200 and 240 with multiple risk factors,
get a complete lipoprotein profile (TG levels and calculation of LDL).
Colorectal cancer (CRC) screening
I. Average-risk patients
 Starting Age: 50 to 75 years of age
 Tools & Frequency:
1. Colonoscopy every 10 years
2. Flexible sigmoidoscopy every 5 years and fecal occult blood test every 3 years
3. Fecal occult blood test every year
II. Moderate-risk patients
 Patients with single or multiple polyps, personal history of CRC
o Initial colonoscopy; repeat at 3 years—if normal, then colonoscopy every 5 years
 Family history of CRC or adenomatous polyps in first-degree relatives
Starting Age, Tools o Colonoscopy at age 40 or 10 years younger than the youngest case in family; if
& Frequency normal, repeat in 3 to 5 years
III. High-risk patients
 Families with familial adenomatous polyposis (FAP):
o Genetic testing at age 10; consider colectomy if positive genetic testing or
polyposis is confirmed; if not, colonoscopy every 1 to 2 years beginning at
puberty
 Families with hereditary nonpolyposis CRC:
o Genetic testing at age 21; if positive, colonoscopy every 2 years until age 40, and
then every year thereafter
 Patients with ulcerative colitis
o Colonoscopy 8 years after disease onset, then every year thereafter

Lung cancer screening

High-risk adults 55 to 80 years of age
High-risk adults are those with a
 30 pack-year smoking history and
Starting Age
 Who are currently smoking or
 Quit within the past 15 years;
Once the patient has stopped smoking for >15 years, annual screening can be discontinued
Frequency Every year
Tool Low-dose CT scan
 Health Maintenance (Cont.)
Breast cancer screening
Starting Age Age of 40
Frequency Every year
 Mammogram
Tool  Clinical breast examination (CBE) and
 Breast self-examination (BSE)
Cervical cancer screening
Starting Age 21, irrespective of sexual history
Age 21 to 29, Pap smear every 3 years
Tools & Frequency
Age 30 to 65, Pap smear every 3 years or Pap smear + HPV testing every 5 years
At age 65 if adequate negative prior screening (3 negative Pap smears or 2 negative Pap
Discontinue
smears with negative HPV testing within the previous 10 years, with the most recent test
screening
within the previous 5 years)
 Recommended for men and women aged 9–26 (but should be routinely given at age 11–
HPV (human
12)
papilloma virus)
 For men, catch up vaccination recommended from ages 13–21, and up to age 26 in MSM
vaccine
 Given as three doses
Screening for sexually transmitted infections
1. All men and women aged 15 to 65 years should be screened for HIV; more frequent
screening should be offered for those at risk.
2. All sexually active women <24 years old should be screened for chlamydia and
indications
gonorrhea.
 Insufficient evidence to make these recommendations for men.
3. Asymptomatic men and women with risk factors should be screened for syphilis
Screening for diabetes mellitus
 All adults with a BMI ≥25 kg/m2 and at least one risk factor for diabetes every 3 years
with hemoglobin A1c, fasting plasma glucose, or a 2-hour oral glucose tolerance test
indications
(OGTT).
 Adults without risk factors should be screened starting at the age of 45.
Screening for hepatitis B virus
1. Injection drug users,
indications 2. Men who have sex with men (MSM),
3. Hemodialysis
Screening for osteoporosis
indications DEXA scan starting at age 65 in women
AAA screening
indications One-time ultrasound in men aged 65 to 75 who have ever smoked
 Recommended Vaccination
Recommended vaccines for asplenic adult patients
• Sequential PCV13 and PPSV23
Pneumococcus
• Revaccination with PPSV23 5 years later and at age 65
H. influenzae • 1 dose Hib vaccine

Meningococcu • Meningococcal quadrivalent vaccine

s • Revaccinate every 5 years
Influenza • Inactivated influenza vaccine annually
• HAV
Other vaccines • HBV
• Tdap once as substitute for Td, then Td every 10 years
PCV13: 13-valent pneumococcal conjugate;
PPSV23: 23-valent pneumococcal polysaccharide vaccine

Vaccines for Adults with HIV

Vaccine Indications
• Chronic liver disease (including HBV & HCV)
HAV • Men who have sex with men
• IV drug users
HBV • All patients without documented immunity to HBV
HPV • All patients age 11-26
Influenza • Annually for all patients (inactivated formulation)
• All patients age 11-18
Meningococcus • Large groups living in close proximity
(serogroups A, C, W, Y) (e.g. college students, military recruits, incarcerated individuals)
• Asplenia or complement deficiency
• PCV13 once
Pneumococcus
• PPSV23 8 weeks later, 5 years later & at age 65
• Tdap once (repeat with each pregnancy in women)
Tdap
• Td every 10 years
Live vaccines (eg, MMR, zoster, varicella) are contraindicated if CD4+ cell count <200/mm 3
HAV =hepatitis A virus; HBV =hepatitis B virus; HCV = hepatitis C virus; HPV =human papillomavirus; IV=
intravenous;
MMR = measles, mumps & rubella; PCV13 = 13-valent pneumococcal conjugate vaccine;
PPSV23 = 23-valent pneumococcal polysaccharide vaccine; Td = tetanus-diphtheria toxoid booster;
Tdap =tetanus-diphtheria-acellular pertussis.
 Recommended Vaccination (Cont.)
Recommended Vaccines for Adults
Age 19-64 Age ≥65
Td/Tdap Tdap once as substitute for Td booster, then Td every 10 years
Influenza Annually
PPSV23 alone Sequential PCV13 + PPSV23
• Chronic heart, lung, or liver disease • 1 dose of PCV13 followed by PPSV23
• Diabetes, current smokers, alcoholics at a later time
Sequential PCV13 + PPSV23
(very high risk patients)
Pneumococcus
• CSF leaks, cochlear implants
• Sickle cell disease, asplenia
• lmmunocompromised
(e.g. HIV, malignancy)
• Chronic kidney disease
CSF = cerebrospinal fluid; PCV13 = 13-valent pneumococcal conjugate vaccine; PPSV23 = 23-valent pneumococcal polysaccharide
vaccine; Td = tetanus-diphtheria toxoid booster; Tdap = tetanus-diphtheria-pertussis

Recommended Vaccines for Chronic Liver Disease

Tdap/Td Tdap once as substitute for Td booster, then Td every 10 years
Influenza Annually
Pneumococca
l PPSV23 once, then revaccination with sequential PCV13 & PPSV23 at age 65
vaccines
Hepatitis A 2 doses 6 months apart with initial negative serologies
Hepatitis B 3 doses at 0 months, 1 month & at least 4 months with initial negative serologies

Regular schedule
(vaccinate at age 11 - 18)
High-risk patients
(vaccinate even if age >18)
Meningococcal Vaccination
• Primary vaccination preferably at age 11 - 12
• Booster at age 16 - 21 (if primary vaccination at age <16)
• Complement deficiency, asplenia
• College students in residential housing (age ≤21), military recruits
• Travel to endemic area, exposure to community outbreaks