ST 25

Endocrine cases
1-Cushings syndrome
Can present as: DM+HTN+Weight gain+leg weakness
DDs of weight gain:
• DM
• Hypothyroidism
• PCOS
• Pseudo-cushings
Presenting illness:
• Weight gain- distribution(does the patient feel that it has particulary affected
face, neck and torso?), duration, how much kg gain?
• Diabetic symptoms
• Proximal myopathy-difficulty getting up, raising arms
• HTN-how long?
• Skin changes-easy bruising, skin thinning, stretch marks*
• Any depressive symptoms?
• Broken bones(osteoporosis)
• Alarm symptoms- lung cancer(ectopic ACTH), Pituitary adenoma(visual field
loss)
Past medical history: DM, HTN, depression, any chronic inflammatory condition
requiring steroids
Drug history with drug allergy:
Steroids*(previous or current)
Social /occupational /family/personal
Menstrual history*
Physical examination:
• Face-cushingoid facies, plethoric, acne
• Arms-check for proximal myopathy
• Back and chest- acne, supraclavicular and interscapular fat pads,
kyphoscoliosis, hirsuitism
• Chest and abdomen- striae, purpuric rashes, truncal obesity, atrophy of skin,
acanthosis nigricans, scars for bilateral adrenalectomy for cushings
disease(before advent of transphenoidal surgery, in which case there will be
hyperpigmentation)
• Lower limbs-proximal myopathy
• Ask to measure BP, test visual fields, dip urine for Glycosuria.
Addressing concern:
• I think your symptoms may be due to a condition called cushing’s syndrome. In
your case, it is due to the steroids tablets you have been taking(iatrogenic) in
which case I will get an opinion from the respective consultant regarding
further management or due to overproduction of steroids by your body(we need
to find the underlying cause and treat it)
• we need to collect your urine for 24 hours and see the cortisol(steroid) level in it
and some imaging tests as well.
• Offer Support groups, physio , occupational therapy
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Investigations:
• screen with 24 hour urinary free cortisol, overnight dexamethasone suppression
test( to suppress ACTH and cortisol production , which won’t happen in cushing
• confirm with-low dose dexamethasone suppression test(differentiate cushings
from pseudocushing), also midnight cortisol level will be raised
• to establish the aetiology:
Suspected ACTH-Independent cushing syndrome( suppressed ACTH levels)-CT
or MRI adrenal glands
Suspected ACTH-dependent syndrome(high ACTH levels)- high dose
dexamethasone suppression test(partial suppression in cushings disease, no
change in ectopic), CRH test( no increase in cortisol in ectopic), inferior petrosal
sinus sampling, MRI of pituitary, CT chest(ectopic ACTH)
• fasting blood glucose, DEXA scan, lipid profile, ecg, echo
Treatment :Depends on cause
• Iatrogenic-reducing the dose or replace with steroid sparing medications
• Adrenal tumour-surgical resection
• Cushings disease-transphenoidal hypophysectomy
• Management of DM, HTN , osteoporosis
Causes :
1. ACTH independent
• Iatrogenic (steroids)
• Adrenal adenoma/carcinoma
• Adrenal nodular hyperplasia
2. ACTH dependent:
• Cushings disease(pituitary adenoma)
• Ectopic ACTH production(lung cancer, carcinoids)
2-Grave’s disease
Can present as: hyperthyroid/euthyroid/hypothyroid
• Palpitations
• Diplopia
• Anxiety and sweating
DD:
• Thyrotoxicosis
• Pheochromocytoma
• Anxiety disorder
• Cardiac causes of palpitations
Presenting illness:
• Palpitations
• Sweating, heart intolerance, weight loss despite good
appetite, irritability, diarrhoea, oiligomenorrhoea( also ask
features of hypothyroidsm)
• Eye changes-double vision, dry eyes
• Proximal myopathy
• Phreochromocytoma(intermittent symptoms of headache,
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flushing, palpitaitons)
• Alarm symptoms-cardiac disease? Chest pain, SOB
Past medical history: autoimmune diseases
Past surgical history- thyroid operation?
Drug history with allergy history: amiodarone, Bblocker(
mask tachycardia)
Personal- smoker?
Family, social and occupational history
Pregnancy?*
• Hands- tremor, tachycardia/AF
• Eyes- exopthalmos(visible lower sclera), lid lag, lid retraction, conjunctival
chemosis, complex opthalmoplegia(eye movement exam)
• Neck exam-diffuse neck swelling, bruit?
• Proximal myopathy?
• Pretibial myxoedema
concerns:
• I think the cause of your palpitations is an overactive thyroid gland. Probably
the underlying thyroid problem is because of a condition called graves disease(
overactive immune system), which may also affect the eyes
• We will perform TFT today to confirm it and obtain heart tracing as well. We
may have to perform ultrasound scan of the neck
• Treatment can be done in three ways: medications, surgery, radioiodine. We
will talk to you about it once the diagnosis is confirmed to see which one is
appropriate for you.
• Warn of agranulocytosis
Investigations:
• TFT
• ECG
• TSH receptor stimulating antibodies, anti-thyroid peroxidase antibodies
• Radioisotope uptake scan
• Usg neck
Treatment:
• Anti-thyroid medications
• B-blockers
• Radio-iodine therapy
• surgery
3-Hypopituitarism
Presenting illness:
• GH deficiency- short stature(if in children), diminished sense of well
being(fatigue and weakness)
• MSH deficiency- pale, dry and wrinkled skin
• Gonadotrophin deficiency –loss of secondary sexual characteristics(loss of
axillary, facial and pubic hair) , erectile dysfunction and infertility, amenorrhea,
hot flushes
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• ACTH deficiency- glucocorticoid deficiency leading to hypotension, no
minerolocorticoid deficiency due to intact Renin-angiotensin system( so no
hyponatraemia, hyperkaemia unlike addisions disease), lack of pigmentation
• TSH deficiency- signs and symptoms similar to primary hypothyroidism
• Prolactin deficiency- inability to lactate following delivery
• ADH deficiency-DI(in panhypopituitarism)
• Local effects of pituitary disease-headaches, visual disturbance
Past medical history- pituitary tumours, pituitary surgery/radiotherapy,
infiltrative diseases such as sarcoidosis and haemochromatosis, sheehan’s
syndrome(pituitary infarction), pituitary apoplexy(haemorrhage into pituitary
gland),
Pregnancy- blood loss?
Physical examinations:
• Pallor
• Skin-dry , pale and wrinkled
• Pulse-bradycardia(hypothyroidism)
• Check eyes-pallor, eye movements, Visual fields
• Look for axillary, facial hair
• Gynaecomastia (mostly found in primary hypogonadism due to elevated LH
levels but can be found in hypopituitarism with hormone replacement therapy)
• Ask to measure Postural drop of BP, palpate testes for testicular atrophy
Investigations:
• CBC-anaemia?
• TSH, T4
• Morning cortisol and ACTH
• Testosterone, oestradiol, LH, FSH
• Prolactin
• GH levels
• Water deprivation test and vasopressin stimulation test
• MRI pituitary
Treatment : hormone replacement and treatment of underlying cause
• Glucocorticoids
• Thyroxine
• Testosterone, HCG injection(if fertility is desired), estrogen replacement
• GH- if symptomatic
• Treatment of cause such as pituitary tumour by surgery.
4-Hypothyroidism
Stem- Lethargy and weight gain
DD:
• Hypothyroidism
1. Primary hypothyroidism
*prior treatment for hyperthyroidism-previous thyroid surgery, radioiodine
therapy, excessive use of carbimazole
*iodine deficiency
*autoimmune disease-hashomoto’s thyroiditis,
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*post partum thyroiditis
*subacute/D-quervain’s thyroiditis
*drugs-amiodarone, lithium
2. secondary hypothyroidism- hypothalamic and pituitary disease(tumours,
amyloidosis, sarcoidosis)
• Cushing’s syndrome
• Addisions disease
• Type 2 DM
Presenting illness:
• Lethargy
• GIT-constipation, weight gain
• Metabolic-cold intolerance, menorrhagia
• N/S-fatigue, depression, cognitive impairment, psychosis
• Hoarse of voice
• Neck lump
• Coarsening of hands
Past medical history- thyroid surgery, radioiodine, autoimmune diseases
Drug history-amiodarone, carbimazole, lithium
Family history* Pregnancy*
• Elevated BMI
• Hand-pulse(bradycardia), dry skin, nail changes(onycholysis,
ridging), carpal tunnel syndrome
• Face-periorbital puffiness, xanthelesma
• Neck-goiter, thyroidectomy scars
• Lower limbs- non pitting oedema, Slow relaxing tendon reflexes
• Look at eyes for grave’s disease
• Look for autoimmune diseases-vitilgo, pernicious anemia, DM
• Ask for postural drop of BP(to exclude coexisting addisons)
• Look for carpal tunnel syndrome, cerebellar features
Addressing concerns :
• You have a condition called hypothyroidism which means an underactive
thyroid gland which is not producing enough of thyroid hormone
• I will confirm with a blood tests today and the treatment if replacement of the
hormone
Investigations:
• TFT-TSH, T4 , t3
• Anti-TPO(Thyroid peroxidase antibodies) , anti-thyroglobulin
antibodies….Hashomoto’s
• FBC-macrocytic anaemia
• Lipid profile
• 9 am cortisol
• USG of neck
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Treatment:
• Levothyroxine replacement
5-Acromegaly
Can present as:
• Carpal tunnel syndrome
• Headaches
• OSA
• Bitemporal hemianopia / vision problem
Focused presenting history:
• Carpal tunnel syndrome- tingling of lateral 3 and half fingers, Pain more at
night, look for scars at wrist for carpal tunnel release surgery, wasting of thenar
muscle
• Change in appearance over time? Change in shoe and ring size? Old
photographs?
• Headaches, sweating
• Bumping into objects, decreased vision
• DM-increased thirst
• Joint pains
• OSA-daytime somnolence, early morning headaches, snoring
• CCF features
• Alarm symptoms( change in bowel habit, rectal bleeding, severe headache with
double vision with ptosis(pituitary apoplexy)
Past medical and surgical history:
• DM, HTN, OSA, arthopathy, CCF, CTS
• Transphenoidal surgery, carpal tunnel release
Drug history:
Social history
Family history
Personal history-?smoker
Occupational history: ?taxi driver
• Hands- large and doughy (spade like) hand, look for CTS, sweaty? BM testing
marks
• Face- prominent supraorbital ridges,
enlarged nose and lips,
prognathism,
bitemporal hemianopia,
visual acuity
opthalmoscopy for optic atrophy,
macroglossia,
interdental separation,
look for surgical scars (transphenoidal surgery inside the nose, underside of
upper lips,transcranial(forehead or side of head)
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• Neck-?goiter
• Chest and axilla-gynaecomastia, hyperpigmentation, skin tags, acanthosis
nigricans, hirsuitism
• Heart- ?ccf
• Check for proximal myopathy
• Features of hypopituitarism
• Ask to measure BP, dip urine for glycosuria, any old photographs?
Concerns and questions? And addressing it
• Your symptoms are due to a benign growth in the pituitary gland that produces
too much of growth hormone. For your headaches, I am going to give pain killers
as a temporary measure however, it is very important to establish the cause
with urgent investigations.
• As your vision is impaired, I am afraid you will have to inform DVLA and stop
driving immediately.
• I am going to do some urgent blood tests and urgent scan(mri) of brain and ask
the eye specialists to see you to assess what extent the growth has affected
vision.
• Most physical features do not regress after treatment(if asked)
Investigations:
• Failure of GH to suppress to <2nmol/l following OGTT.
• IGF1
• MRI of pituitary
• Test anterior pituitary function(TFT, LH, FSH, Testosterone,
short synacthen test, cortisol levels)
• Test for complications- fasting blood glucose, measure BP, ECG, ECHO, Nerve
conduction studies for CTS, sleep studies for OSA, visual perimetry, colonoscopy
Treatment :
• Surgery-transphenoidal hypophysectomy
• Radiotherapy
• Medical-somatostatin analogues(octreotride and lancreotide), dopamine
agonists, GH receptor antagonists(pegvisomant)
Active disease
• Sweating
• HTN
• Skin tags
• Peripheral oedema
6-Addisons disease
Can present as:
• Tiredness and fatigue
• Postural hypotension
• Skin pigmentation
DD for tiredness
• Addisons disease
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• Anaemia( blood loss?
• Hypothyroidsm
• DM
• OSA
DD of postural hypotension:
• Addisons disease
• DM
• Fluid loss
• Drugs
• parkinsons
Focused history:
Presenting illness:
• Tiredness-duration, variation during day, ?effect on quality of life
• Postural hypo-dizzy while standing, any collapse?
• Skin changes
• Loss of appetite, weight loss
• GIT-vomiting,diarrhoea , abdominal pain
• Look for causes of addisons( features of TB, cancer
• Exclude DDs such as hypothyroidsm, OSA, DM, Anaemia
• Other autoimmune diseases(graves,DM, connective tissue diseases, celiac
disease, pernicious anaemia)
Past medical and surgical history: TB? DM, Vitiligo, previous pituitary surgery
Drug history: ?steroid use
Personal history: smoker?
Social, family and occupational history:
Menstrual history: amenorrhoea/oligo
Travel history: contact with TB
• Hands-pigmentation of palmer creases, pulse, ask to measure lying and
standing BP
• Face-pallor, oral cavity for pigmentation, ?cushingoid
• Neck- any goiter?
• Chest-?vitiligo, TB? Loss of hair esp in females
• Abdomen: scars for adrenalectomy
• Visual field defects(nelsons syndrome)
• I think your symptoms are caused by a condition called addisons disease
where your body is not able to produce enough natural steroids from a gland
called adrenal gland located above kidneys.
• we will have to admit you to confirm investigations and also to exclude other
causes such as anaemia, DM. if we start treatment without confirmation, it will
interfere with the results
• the treatment is lifelong replacement of steroids, need to increase dose in
physiological stress
• steroid alert card/medic alert bracelet,
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investigations:
• FBC(lymphocytosis, eosinophilia, anaemia)
• S.electrolytes(hyponatraemia, hyperkalaemia)
• RBS-Hypoglycemia
• Short synacthen test( if after injection of synacthen, cortisol level increases
>550nmol/l, then addisions can be excluded)
• 9 am cortisol
• Adrenal autoantibodies
• ACTH (raised in primary hypoadrenalism)
• Imaging-CXR(TB), CT adrenal glands
Treatment :
• If in adrenal crisis-fluid resuscitation, i/v hydrocortisone
• Chronic case:
Glucocorticoid replacement(hydro or prednisolone)
Mineralocorticoid replacement(fludrocortisones for postural hypotension)
Androgen replacement
DX: primary hypoadrenalism(addisons disease) likely
cause is autoimmune/TB
Nelson’s syndrome: bilateral adrenalectomy done for cushings syn resulting in
loss of negative feedback loop , so high ACTH levels causing enlarged pituitary
glands and hence diffuse skin pigmentation(MSH), look for bitemporal
hemianopia
7-Sheehan’s syndrome
Infarction/necrosis of pituitary gland following postpartum haemorrhage and
hypovolumic shock leading to hypopituitarism ranging from selective hormonal
deficiencies to panhypopituitarism
Presenting illness:
• Prolactin deficiency-failure to lactate/difficulties with lactation(common initial
symptom
• Gonadotrophin deficiency- amenorrhea, oligomenorrhea, hot flashes,
decreased libido after delivery
• TSH deficiency-secondary hypothyroidism(later part)
• ACTH deficiency-secondary adrenal insufficiency(later part)- weakness, fatigue,
dizziness, hypoglycemia
• Hyponatraemia-acute presentation
• GH deficiency-decreased muscle mass, fatigue
Past medical history: PPH, hypovolumic shock
• Pallor
• Pulse-brady(Hypothyroidism)
• Postural drop of BP
• Skin-dry, wrinkled
• Eye movements and visual fields
• Reduced axillary hair
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Addressing concerns:
• It seems that you are suffering from a condition called sheehan’s syndrome
• It is due to severe blood loss during and after child birth, leading to less blood
supply to different parts of body and hence lack of oxygen damaging pituitary
gland responsible for producing so many hormones
• I will do some blood tests and refer to hormone doctor who will confirm and
treat you by hormone replacement
Investigations:
• TSH, T4
• S.Electrolytes(hyponatraemia, normal K)
• S.cortisol, ACTH
• LH, FSH, S.estradiol
• GH levels
• Prolactin levels
• Insulin tolerance test ( induces hypoglycemia and as a result
leading to increased cortisol levels in normal person, in this
case, the cortisol level will not rise)
• MRI of pituitary-?emty sella
Treatment: hormone replacement
• Hydrocortisone replacement initially, then thyroid hormone
and estrogen with or without progesterone. GH replacement
in adults is controversial
8-MEN type 1 syndrome

3Ps-parathyroid tumours,pituitary tumours, pancreatic islet cell tumours
AD and can be sporadic as well
Presenting illness:
• Parathyroid tumours(primary hyperparathyroidism)- hypercalcemia(polydipsia,
polyuria, constipation, malaise), neprolithiasis
• Pancreatic islet cell tumours- gastrinomas(diarrhoea, recurrent peptic ulcer
disease), insulinomas(hypoglycemias), glucagonomas(hyperglycemia,necrolytic
migratory erythema), VIPomas(watery diarrhoea, hypokalaemia, achlorydia)
• Pituitary tumours- headaches, visual field defects.
Prolactinomas(decreased libido and erectile dysfunction in men,amenorrhea and
galactorrhoea in women), GH-acromegaly
• Carcinoid tumours-flushing, diarrhoea, bronchospasm,
Past medical and surgical history- renal stone, peptic ulcer, headaches,
parathyroid surgery
Family history*
• Visual acuity, visual field defects, fundoscopy
• Parathyroidectomy scar in neck, thymectomy scar
• Ask to measure BP
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• MEN type 1 syndrome is a rare hereditary disorder that causes tumours in the
glands that produces hormones, such as parathyroids, pancreas and pituitary. It
produces excessive hormones that can lead to disease.
• However the tumours are usually non-cancerous(benign).
• Although it can’t be cured, regular testing is needed to detect problems.
• Will refer to gland doctor, bowel doctor, and surgeons.
• Genetic counseling.
Investigations:
• Hyperparathyroidism- calcium and parathyroid hormone levels, USG of neck ,
DEXA scan for bone abnormalities
• Pituitary- MRI, S.Prolactin, GH levels
• Gastrinomas-fasting gastrin level, secreting stimulation test, endoscopic USG,
Scintigraphy(choice)
• Insulinomas-supervised 72 hour fast, CT/MRI , scintigraphy, SPECT scan
• Glucagonomas- hyperglycemia, glucagon levels
• Carcinoids- plasma chromogranin A, urinary 5-hydroxyindoleacetic acid,
CT/MRI chest
• Genetic testing
Treatment:
• Hyperparathyroidism-subtotal or total parathyroidectomy with forearm
autotransplantation
• Gastrinoma- PPI, Surgical removal, somatostatin analogues
• Insulinoma-surgical removal, octreotide
• Pituitary tumours- transphenoidal surgery, radiotherapy, octreotide,
bromocriptine
• Carcinoid-surgery, radiotherapy, octreotide
9-MEN type 2A syndrome
*mutation in RET proto-oncogene
Presenting illness:
• Medullary thyroid carcinoma- neck mass, diarrhoea due to elevated calcitonin
levels
• Pheochromocytoma(benign tumour of adrenal medulla)-hypertension , episodic
sweating, headaches
• Parathyroid hyperplasia-features of hypercalcemia
Past medical and surgical history-thyroidectomy surgery, HTN,
renal stones
• Pulse, BP
• Neck mass/thyroid nodule, neck scar
• Fundoscopy-hypertensive retinopathy
• Is a rare hereditary condition that causes tumours in thyroid, parathyroid and
adrenal glands
• Will do blood tests, scans of neck and refer to gland doctor for further
Investigations:
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• Genetic counselling, family screening
• MTC-calcitonin levels, USG neck, carcinoembryonic antigen, CT chest and
abdomen for metastatic disease, radionuclide scanning to see extent of
metastases, tumour removal and histopathology
• Parathyroid hyperplasia-calcium and parathyroid hormone levels, USG neck
• Pheochromocytoma-urinary catecholamines and metanephrine, plasma
metanephrine, CT/MRI of adrenal glands, MIBG(metaiodobenzylguanidine) scan
Treatment:
• Pheochromocytoma- alpha blocker followed by b-blocker , then surgery
• MTC-surgery(thyroidectomy)
• Hyperparathyroidism-management of hypercalcemia,
surgery
Long term monitoring: yearly
• 24 hour urinary catecholamines, metanephrine
• Calcitonin, CEA levels
• S.calcium, PTH levels
10-Pheochromocytoma
*rare catecholamine secreting tumour..only 10% is malignant • Isolated
• Associated with 3 syndromes- MEN 2, Von-Hippel-Lindau syndrome, NF type 1
DD:
• Insulinoma-hypoglycemia
• Hyperthyroidism
• Paroxysmal SVT
Presenting illness:
• Episodic spells –headaches, palpitations, sweating • Others are-tremor,
nausea, weakness, anxiety, sense of doom, epigastric pain, constipation, flank
pain, weight loss
• Hypertension-encephalopathy, heart failure, nephropathy, retinopathy
• Dizzy-Postural hypotension from volume contraction
• Look for associated syndromes-MEN 2-medullary thyroid carcinoma,
hyperparathyroidism features,,, NFneurofibromas, skin changes, VHL-kindey
cancer
Past medical history- Uncontrolled HTN, MTC, NF, kidney cancer
Surgical history- MTC removal, neprectomy
Family history* of kidney cancer
Personal-smoking, alcohol
concern
• It is a are tumour of the adrenal glands, which sit above the kidneys
• They are usually benign/non-cancerous, although around 1 in 10 are cancerous
• The adrenal glands produce a number of hormones, and in this case, they
produce excessive fight or flight hormones called adrenaline and noradrenaline.
This hormone control heart rate, blood pressure and metabolism and because of
excess hormone, it will cause palpitations and high blood pressure
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• Will do some blood tests and special urine tests and special scans for the
diagnosis
• Treatment of choice is removal of the tumour by surgerykeyhole surgery/open
surgery , managed by MDT approach. And need to control blood pressure before
surgery.
Investigations:
Specific:
• Plasma metanephrine
• 24 urinary collection for catecholamines and metanephrines
• Imaging-abdominal CT scan, MRI, scintigraphy, PET scan
Note: scintigraphy/MIBG(metaiodobenzylguanidine ) scan is reserved for
biochemically proven pheochromocytoma which is not visible with CT or MRI
abdomen
To rule out syndromes:
• Intact PTH, s.calcium levels
• genetic testing
To see target organ damage by HTN:
• ECG
• RFT, Urine for albumin
• Blood glucose
• Fundoscopy
Treatment:
• Surgical resection of tumour is treatment of choice
Pre-operative medical stabilization:
• Alpha-blockade(phenoxybenzanamine) 7-10 days before
• Provide volume expansion with isotonic NACL
• Initiate B-blocker only after adequate alpha blockade, usually after 2 days
11-Polyglandular autoimmune syndrome (PGA syndrome) or autoimmune
polyendocrine syndrome(APS)
Three types
Type 1: mainly 3 components ( at least 2 needed for diagnosis). Usually inherited
autosomal recessive pattern
• Chronic mucocutaneous candidiasis
• Hypoparathyroidism
• Autoimmune adrenal insufficiency
• Others-autoimmune Type 1 DM, Pernicious anaemia, autoimmune hepatitis,
alopecia, vitiligo
Type II: usually inherited in autosomal dominant pattern. Occurs in 3rd or 4th
decade
• Autoimmune Addison disease plus either
• Autoimmune thyroid disease(mainly Hashimoto’s thyroiditis) or
• Type 1 DM
• Others-hypogonadism, pernicious anaemia, celiac diasese, PBC
Investigations:
• CBC, blood glucose, s.electrolytes, TFTs, LFTs
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• Serum autoantibodies screen:
1. Autoantibodies to 21 hydroxylase and 17 hydroxylase for addision,
2. thyroid peroxidase antibodies (TPO) for hashimoto’s
3. TSH receptor stimulating antibodies for Grave’s disease
4. glutamic acid decarboxylase-65 and islet cells antibodies for Type 1 DM
5. tissue transglutaminase antibodies for celiac disease
6. parietal cell and anti-intrinsic factor antibodies for pernicious anemia
• evaluation of end organ function
1. addisons-plasma cortisol, acth level, synacthen test, CT adrenal gland
2. autoimmune thyroiditis- TFTs, USG neck, thyroid isotope uptake scan
3. type 1 DM-fasting blood glucose
4. FSH, LH, Testosterone, estradiol
Treatment:
Organ based: hormone replacement therapy
Family member screening with serum autoantibodies
12-Klinefelter’s syndrome
DD:
• kallman’s syndrome
• other causes of primary hypogonadism
DD of tall stature:
• klinefelter
• familial
• marfan’s
• homocystinuria
Presenting illness:
• Infertility, tall stature, Men
• Gynaecomastia
• Other symptoms of hypogonadism- erectile dysfunction,fatigue, low shaving
frequency, high pitched voice
• Academic difficulties and behavioural problems
• DD… kallman’s syn(smell difficulty)
Past medical history- increased evidence of autoimmune
diseases(SLE, RA, DM, hashimoto’s thyroiditis), mitral valve
prolapse
Social history?*
Physical exam:
• Tall stature
• Gynaecomastia
• Paucity of facial and axillary hair
• Auscultate precordium for mitral valve prolapsed
• Ask to palpate testes-small and firm
Investigations:
• Primary gonadal failure- low testosterone, high FSH, LH
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• Karyotyping( 47xxy)
• Echo for MVP
• Dexa scan for osteoporosis
Treatment :
• Testosterone replacement therapy
• Fertility assessment and assistance
• Surgery for gynaecomastia
13-Turner syndrome
DD:
• Noonan syndrome (A.D disorder, Learning disability, short
stature, hypertelorism, low set ears, epicanthal folds,
webbed neck, cardiac disease(pulmonary stenosis, ASD, HOCM),
• Down syndrome(short stature, single palmer crease, low set ears, epicanthal
folds, flattened nasal bridge, short neck, learning disability, heart(VSD, ASD,
TOF), endocrine(DM, hypothyroidism)
Presenting illness:
• Female patient with short stature, amenorrhea and HTN
• Lack of secondary sexual characteristics( defective breast
development,amenorrhea)
• Heart- bicuspid aortic valve, coarctation of aorta, HTN, Aortic dissection
• Endocrine-DM, hypothyroidism
• Renal-horseshoe kidneys
• Learning disability?
• Limbs swelling (congenital lymphedema?)
Past medical/surgical history: HTN, coartation repair surgery, hypothyroidism,
DM, renal disease
Drug history: hormone replacement?
Social /occupational/family history
• Short stature
• Limbs-wide carrying angle/cubitus valgus at elbow, short fourth and fifth
metacarpal/metatarsal bones, lymphoedema(puffiness over fingers and toes)
• Face-high arch palate, inner canthal folds, ptosis, cataracts
• Ear- hearing loss (ottitis media and otosclerosis), anomalous auricles
• Neck-short neck, webbed posterior neck, low posterior hair line*, goiter?
• Chest-shield chest with widely spaced nipples, pectus excavatum may be
present
• Heart- biscuspid aortic valve, coartation of aorta(?repaired)
• Skin-excessive pigmented naevi
• I think you have a condition called turner’s syndrome. It is a problem with the
chromosome where you lack one x chromosome.
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• I will refer to geneticist for confirmation with a blood test called karyotyping.
Meanwhile, I will do some tests to check sugar levels, thyroid functions, scan
your heart and kidneys as it can affect them.
• I will also refer you to hormone specialist because you will require hormone
replacement.
• Psychological supports
Investigations:
• Karyotyping -45XO karyotype in peripheral blood lymphocytes
• Exclude organ involvement:
1. Heart- ECHO
2. Endocrine-blood glucose, TFT, Low plasma estradiol with raised LH,
FSH(Hypergonadotrophic hypogonadism), vit D levels/bone prolife(risk of
osteoporosis)
3. Renal- USG(horseshoe kidneys)
Treatment : MDT approach
• HRT
• Recombinant growth hormone to increase height
• Genetic counseling
• Pregnancy-specialist fertility clinic input, very few may conceive but will have
major risk of severe congenital anomalies
• Treatment of associated conditions
• Prophylactic gonadectomy in case of mosaicism as there is chance of
gonadoblastoma
• Psychological therapy
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Neurological cases
14-Transient global amnesia
DD:
• TIA/stroke
• Temporal lobe seizure
• Hypoglycemia
• Migraine variant
• Dementia
Presenting illness:
• Paroxysmal, transient loss of memory function verified by a witness. Remote
memory is preserved (remember who you are, recognize the people you know
well). Striking loss of memory for recent events(can’t remember where you are or
how you got there) and impaired ability to retain new information(registration of
information is intact)
• Anxious and agitated, may repeatedly ask questions concerning the events.
• Symptoms lasts typically less than 24 hours
• Precipitants-stress, pain, exertion, sexual intercourse
• Exclude DD
• Any head injury
• Annual Recurrence (4-5%)
Past medical history: past attack of TGA, migraine, risk factors of
TIA(DM, HTN, hyperlipidemia
Drug history-sedatives
Alcohol*, smoker*
• Limbs- tone, power, reflexes, gait
• MMSE
• Pulse, BP, Carotid bruit, heart murmur
• TGA is a sudden temporary loss of memory, inability to recollect recent events.
The cause is not known.
• I will do some blood tests today and obtain ECG tracing of your heart. Although,
there are no tests to diagnose this condition, I will refer to nerve doctor for further
tests to exclude serious condition which can present in similar ways
such as stroke/mini-stroke
• It is harmless and there is no need of treatment as well. If anxious, referral to
psychiatry/counsellers.
Investigations:
• Electrolytes, RBS
17
• MRI/CT scan to rule out stroke
• EEG to rule out seizure
• ECG
Treatment:
• reassurance
15-Transient ischaemic attack
Neurological deficit<24 hours is key
Sudden onset, focal neurological symptoms, symptoms maximal
at onset rather than progressing, negative symptoms
DD of TIA:
• Migraine
• Focal epilepsy
• TGA
• Hypoglycemia
• MS
DD of amaurosis fugax:
• Central retinal vein or branch occlusion
• Diabetic maculopathy
• GCA
• Vitreous haemorrhage
• hypoglycemia
Presenting illness:
• TIA affecting anterior cerebral artery-dysphasia, contralateral weakness,
emotional changes
• TIA affecting MCA-dysphasia, contralateral weakness, visual field loss, sensory
loss
• TIA affecting PCA- contralateral visual field loss, neglect, weakness, sensory
loss
• TIA affecting Vertebrobasilar artery-nausea, vomiting, vertigo, visual
disturbance, dysarthia, ataxia, weakness +_ sensory disturbance
• Amaurosis fugax(transient monocular blindness)- curtain coming down
vertically in the field of vision in one eye/ dimming or fogging of vision
• Exclude DD
• Look for underlying cause of TIA-? Palpitations, chest pain, sob
Past medical history: Risks of TIA)( Past stroke/TIA, HTN, DM,
Hyperlipidemia, cardiac disease
Drug history- recreational drug use?
Personal history-smoker? Alcohol?
Physical examination (there should not be residual neurological deficit)
• Amaurosis fugax- visual acuity, field, eye movement, fundoscopy
• Pulse for AF
• Ask for BP
• Listen to carotid bruits and cardiac murmurs
18
• Limbs for power, and reflexes or ask to perform complete neurological
examinations including cranial nerves
• It seems that your symptoms are related to a condition called TIA/mini-stroke.
This means, you lost your vision temporarily due to blockage of the vessels
supplying the back of the eye responsible for vision.
• Fortunately, it was temporary and your symptoms resolved, but it is a warning
sign that you may get a serious form of attack called stroke.
• There are certain risk factors for it, I will investigate with blood tests and obtain
tracing of your heart and a special jelly scan of your neck vessels as well and
treat the risk factors accordingly and refer to TIA clinic and probable imaging of
brain.
• Meanwhile, I will start you with a medication called aspirin 300mg, which will
reduce the frequency of such attacks
Investigations:
• Blood glucose, HbAIc
• Lipid profile
• ECG, ECHO
• colour Doppler scan of carotid
• MRI of brain/CT brain
Treatment:
Asses ABCD2 score:
Age : 60 or more(1)
Blood pressure- 140/90mmg or more(1)
Clinical features-unilateral weakness(2), speech impairement
without weakness(1)
Duration of symptoms: 60 mins or more(2), 10-59(1), <10(0)
DM(1)
ABCD2 score 4 or above (high risk for stroke) or
people with crescendo TIA(2 or more TIA in one week)
• Aspirin 300mg immediately
• Admit in ward
• Specialist assessment within 24 hours,
• Measures of secondary prevention(addressing individual risk factors)
1. Treat HTN
2. Treat DM
3. Treat hyperlipedemia
4. Stop smoking, reduce alcohol
5. Symptomatic carotid stenosis of 70-99% carotid endarterectomy trial)- urgent
carotid endarterectomy and stenting within 2 weeks of TIA or non-disabling
stroke
6. AF- anti-coagulate if no contraindications
7. Diet and exercise
Note: TIA patient on warfarin needs admission to exclude ICH urgently
ABCD2 score 3 or less
19
• Aspirin 300mg immediately
• Refer to TIA clinic
• Specialist assessment within one week
• Measures of secondary prevention as above
2 day risk of stroke:
• 1% if score 0-3
• 4% if score 4-5
• 8% if score 6-7
16-Benign essential Tremor:

DD:
• Parkinson’s disease
• Thyrotoxicosis
• Cerebellar tremor
• Alcohol and drug withdrawal tremor
• Drugs: salbutamol, theophylline,sodium valproate, lithium,
ciclosporin,tacrolimus
• Wilsons disease
Presenting illness:
• Tremor- at rest/postural/related to action, which part
affected? Unilateral/bilateral, exacerbating and relieving
factors(?alcohol), effect on hand writing(becomes poorly
legible in BET) and hand functions
• DD-Parkinsons disease(unilateral tremor, rigidity,
bradykinesia, micrographia, slurring of speech) ,
cerebellar(action tremor, uncoordinated movements, look for
causes), thyrotoxicosis
Past medical history: Parkinsons disease , thyroid disorder,
anxiety disorder,
Drug history-above list, recreational drug use
Family history*
Personal- alcohol*
Social, occupational- impact on driving?
• Mainly postural tremor
• Exclude parkinson’s disease(rest tremor), thyrotoxicosis,
cerebellar syndrome(action tremor)
• I think your tremor and difficulty writing may be due to a condition called benign
essential tremor. I don’t think it is parkinson’s disease as there are no other
features.
• Although, I am sure about the diagnosis, I would like to check your thyroid
function with a blood test as it can cause tremor as well. It would be good if you
20
reduce your alcohol now as I will be giving you medication which will help with
the symptoms.
• The medication that can treat is called b-blocker
• Physio, occupational support
• Inform DVLA about diagnosis
Investigations:
Clinical diagnosis, however do exclude DD
• TFT
• Plasma glucose (hypoglycemia)
Treatment:
• B blocker (1st line)
• Primidone(2nd line)-anticonvulsant
• Physio, occupational and psychological support
*Lithium toxicity tremor- action tremor(cerebellar dysfunctioncheck
for other cerebellar signs), potentiated by use of diuretics(dehydration), ACEi,
NSAIDs, other features-nausea, vomiting,abdominal pain, diarrhoea, confusion,
seizures
17-Black outs/collapse
DD:
With complete or partial LOC
• Syncope
• Epilepsy
• Hypoglycemia
• Vertibrobasilar TIA
Without affecting consciousness:
• TIA
• Falls
• Psychogenic pseudosyncope
*Presyncope- prodromal symptoms (dizziness) prior to fainting
Syncope:
1. Reflex syncope
• Vasovagal syncope (emotion, fear, pain, orthostatic stress)
• Situational syncope (cough, micturation, post-exercise)
• Carotid sinus syncope
2. Cardiac syncope
• Arrhythmias-bradycardia and tachycardia (svt, vt)
• Structural heart disease-HOCM, valvular heart disease, IHD
• Pulmonary embolism
3. Syncope due to orthostatic hypotension
• Primary autonomic failure (MSA,Parkinson’s)
• Secondary autonomic failure (DM, amyloidosis)
• Drug induced hypotension-vasodilators, diuretics
• Volume depletion-diarrhoea, vomiting
21
Presenting illness: did you lose consciousness? Do you Remember falling?
Symptoms preceding, during and after the event
• Vasovagal syncope : Before: Prodromal symptoms such as flushing, light-
headedness, nausea and blurring of vision. Precipitated by hot environment,
prolonged standing, anxiety.
During: Transient LOC, collateral history: pallor as observed by others, lasting
few seconds
After: rapid recovery, any injury?
• Carotid sinus syncope- during neck movements, shaving, wearing a tight collar
• Situational-during coughing, defecation, micturation
• Cardiac syncope- Before: chest pain, SOB,
palpitations. During: exertion(HOCM, AS, arrhythmias), After: rapid recovery. h/o
cardiac disease
• Syncope due to postural hypotension: during standing or change in posture,
ask about causes.
• Seizure- BEFORE- aura, precipitated by flashing lights, sleep deprivation,
alcohol, DURING: Collateral history-LOC,Jerking of limbs, tongue biting, frothing
at the mouth, rolling of the eyes, loss of control of urine and faeces, repeated
head turning to one side.
Absent seizure-repeated eye blinking. Any injury? How long? Colour
change(cyanosis)
AFTER: delayed recovery, post ictal headache, confusion, drowsiness, limb
weakness.
• Vertebrobasilar ischaemia-raising the arms above head may precipitate
collapse by sub-clavian steal phenomenon
• Hypoglycemia
Past medical history: past collapse, heart disease, epilepsy, DM(autonomic
failure, orthostatic hypotension, hypoglycemia), anxiety disorder
Drug history: B-blockers,CCB, ACEi, ARB, insulin, OHA etc….
Family history- sudden death?(HOCM, long QT syndrome)
Social and occupational: driver? Risk while falling? Alcohol?
• Pulse
• Ask to measure postural drop of BP
• Anemia
• Carotid bruit
• Heart
• Syncope is caused by a temporary reduction in blood flow to the brain due to
number of reasons and in your case it was due to sudden pain(glitch in the
mechanism of autonomic nervous system)
• But we will investigate to see any problems in heart beginning with heart tracing
as it can cause the same problem as well(though unlikely) and also would like to
measure your standing and lying blood pressure
22
• Treatment is avoiding any possible triggers and treating the cause if any and
putting in recovery position after collapse
Investigations:
Initial:
• Resting ECG, 24 hour ECG
• CBC(anemia), Blood glucose, s.electrolytes
• Echocardiography
Based on suspected cause:
• Tilt table test(reflex syncope)
• Event recorders or implant recorders
• Carotid sinus massage(carotid sinus hypersensitivity)
• EEG(seizure)
• Carotid Doppler(carotid stenosis)
• MRA of vertebral vessels(for suspected vertebrobasilar ischaemia)
• Electrophysiological studies for arryhthmias
Treatment : according to underlying cause
Tilt table test is done for:
• Reflex syncope(fall of BP and heart rate on when tilted to 60 degrees from
supine position)
• Postural hypotension(with no drop in heart rate)
• Postural orthostatic tachycardia syndrome(POTS)-hypotension with tachycardia
18-Epilepsy, 1st episode of seizure

*recurrent unprovoked seizures
1. Generalized (primary Vs secondary)
• Tonic-clonic seizure(stiffening followed by jerking of limbs, rolling of eyes,
cyanosis and frothing at mouth, LOC, urinary or faecal incontinence)
• Absence seizure-vacant stare and eye blinking
• Myoclonic seizure-sudden onset involuntary movements of body parts, usually
in morning
• Atonic seizures-brief loss of postural tone
2. Partial(simple vs complex(impairment of consciousness))
• Temporal lobe seizures-lip smacking, chewing, grimacing
• Frontal lobe seizures- jacksonian seizure(convulsion beginning in one body part
and spreading to adjacent ipsilateral body parts), violent movements
• Parietal lobe seizure-positive sensory symptoms and pain
• Occipital lobe-visual hallucinations
Causes of seizure:
1. Primary/unprovoked
2. Secondary/provoked seizure
• Infection-meningitis, encephalitis, TB cerebral malaria
• Neoplastic-primary or metastases
• Vascular-stroke,
• Trauma
23
• Metabolic-hypoglycemia, hyponatraemia
• Drugs-lithium toxicity, benzodiazepine withdrawal, ciprofloxacin, imipenem,
phenothiazines
• Alcohol withdrawal
• Epileptic syndromes-tuberous sclerosis, sturge-weber syndrome
History of presenting illness:
• Record the events before, during and after the seizure
• Events before(aura)-strange smells/tastes/sensations, rising sensation in
epigastrium, autonomic(sweating, pallor, nausea, vomiting)
• During— did you lose consciousness?*
• 1st attack or repeated
• Precipitants-flashing lights, sleep deprivation, alcohol, recent illness, non-
compliance with medication
• Exclude meningitis-fever, headache, neck stiffness, skin rash,
photophobia….recent ENT infections(spread to CNS), exclude stroke, space
occupying lesion
Past medical history-storke, meningitis/encephalitis, trauma to head, cerebral
metastases, tuberous sclerosis
Drug history-compliance, lithium toxicity?
Family history?
Occupational history?..driver? swimmer?
Alcohol?
To exclude epileptic syndromes
• Tuberous sclerosis-skin changes
• Sturge –Weber syndrome
• Full neurological exam
• Cardiac exam
• Epilepsy is a condition that affects brain and causes repeated seizures due to
overfiring of electrical impulses in brain cells
• Often the cause is not found
• Will do some blood tests and refer to specialist doctor for further tests and
treatment
• Life style modification
• Stop driving and inform DVLA
• Pregnancy? Increase dose of OCP, Folic acid, counsel about possible birth
defects
Investigations:
• CBC
• Electrolytes
• Blood sugar
• LFTs
• Drug levels-lithium, and anti-epileptic levels
• ECG to exclude cardiac cause of syncope
24
• MRI brain
• EEG-Inter-inctal EEG, ambulatory EEG
Treatment:
• General-life style measures-avoidance of precipitants, driving, recreation(avoid
swimming, cycling)
• Generalized tonic clonic- sodisum valproate (1st line)carbamazepine and
lamotrigine
• Partial/secondary generalized- carbamazepine and lamotrigine(1st line)
When to give AED?
• Usually after second seizure
• 1st unprovoked seizure with neurological deficit, abnormal EEG, Structural
abnormality on brain Imaging, family/carers consider the risk of having a further
seizure unacceptable
Driving:
1. Epilepsy
• Group 1- must notify DVLA, Must stop driving. Duration- 5 years(with or without
epilepsy medication)
• Group 2-must not drive and must notify DVLA. Duration- 10 years(without
epilepsy medication)
2. 1st unprovoked epileptic seizure/isolated seizure
• Group 1-must not drive and must notify DVLA. Duration- 6 months(12 months if
increased risk of seizure)
• Group 2- duration-5 years
3. Secondary causes of seizure-apply above rules, except in case of seizure at
the time of acute head injury/intracranial surgery, rules are different
19-Headache:
DD
1. Primary headaches
• Migraine
• Tension- type headache
• Trigeminal autonomic cephalgias(TAC)- cluster headache, paroxysmal
hemicranias, short lasting unilateral neuralgiform headache attacks with
conjunctival injection and tearing (SUNCT), hemicrania continua
• Other primary headaches- primary cough headache, primary exercise
headache, primary headache associated with sexual activity, primary thunder
clap headache, primary stabbing headache etc…..
2. Secondary headaches
• Headache attributed to trauma/injury to head and neck
• Due to cranial or cervical vascular disorder
• Non vascular intracranial disorder
• Due to substance or its withdrawal
• Due to infection
• Due to disorders of ENT
• Due to psychiatric disorder
25
3. Painful cranial neuropathies
Migraine:
• Migraine without aura- headache(unilateral location in frontotemporal region,
pulsating quality, moderate or severe in intensity, aggravated by routine physical
activity, associated with nausea, photophobia, phonophobia, usually lasting 4-72
hours, at least 5 such attacks, may have menstrual relationship
• Migraine with aura- reversible aura symptoms such as :
visual( zig zag flashes),
sensory(pins and needles, numbness) ,
speech(aphasia, dysarthia),
motor(hemiplegic migraine-sporadic or familial hemiplegic migraine),
brainstem( dysarthia, vertigo, tinnitus, ataxia, diplopia, decreased level of
consciousness but without motor weakness),
retinal(reversible monocular visual disturbance such as blindness, scintillations),
the aura is followed by headache.
Tension-type headache: subtypes: episodic and chronic
• Headache-typically bilateral, pressing or tightening in quality, mild to moderate
in severity, lasting minutes to days
Note: medication over use headache will come in all headaches
Cluster headache:
• Headache- severe, unilateral orbital/supraorbital/temporal pain, lasting 15mins
to 3 hours, once to 8 times a day,
associated with ipsilateral conjunctival congestion, lacrimation,nasal
congestion,rhinorrhea, facial sweating, miosis,ptosis, restlessness/agitation
Paroxysmal hemicranias:
• Same as above but lasting 2-30 mins, occurring several times a day, responds
to indomethacin.
SUNCT:
• Same as above but lasting seconds to minutes, at least once a day, prominent
redness and lacrimation
SAH- Sudden onset, severe thunder clap headache peaking in seconds or
minutes , associated with focal neurological deficits
RED FLAG SIGNS in headache:
• Thunder clap headache
• Inability to move a limb
• Recent trauma
• Being woken from sleep
• Confusion
• Headache worsens with coughing, sneezing, exertion,
changing posture, (raised ICP)
• GCA-jaw claudication, vision loss
• Neck stiffness, fever, rash
• h/o cancer, thrombosis
Physical examination
26
• Raised ICP-Dilated pupil? 6 the nerve palsy by checking eye movements,
fundoscopy for papilloedema
• neurological exam of limbs
Investigations: Clinical diagnosis
• brain imaging for red flag features(otherwise no need of investigations)
Treatment:
Cluster headache- nasal/subcutaneous triptans, oxygen
Idiopathic intracranial hypertension

*headache with history of isotretinoin intake for Acne
Presenting illness:
• Obese female
• Increased ICP- non-specific headache ,nausea and vomiting
• Papilloedema-leading to secondary progressive optic
atrophy-visual loss
• Diplopia-on lateral gaze(false localizing sign-6th nerve palsy)
• tinnitus
• Exclude DD—migraine, tension, ICSOL
Past medical history: HTN, hypothyroidism, cushing’s
Drug history*-isotretinoin,steroids, tetracycline,OCP
thyroxine,nitrofurantion, lithium, SLE, Sarcoidosis
Personal-smoker?
• Visual acuity-usu. Intact
• Visual fields- peripheral visual field constriction due to
Papilloedema
• Eye movements- check for 6th nerve palsy, lateral gaze palsy
• Fundoscopy-bilateral papilloedema*
• The brain and the spinal cord are bathed by a clear watery
fluid called CSF within the skull.
• IIH is raised pressure within the skull which puts pressure on
the brain. The exact cause is not known. The raised pressure
will give pressure to back of the eye where the nerve
responsible for vision called optic nerve is situated. It gets
swollen and if not treated, might lead to blindness.
• I will give medications to relieve your headache and ask eye
doctor to see you and refer to brain doctor.
Investigations:
• MRI/CT Brain(to rule out intracranial lesion)
• LP
• Bed side USG-measure diameter of optic nerve sheath
• Detailed ophthalmic assessment(formal perimetry, OCT)
Treatment:
• General- treat obesity -weight loss, diet , exercise*
27
• Medical therapy-acetazolamide, furosemide,steroids ,
NSAIDs and paracetamol for headache(amytryptylline,
propanolol, topiramate-prophylaxis)
• Surgery-optic nerve sheath fenestration, LP or VP shunt
• Serial LP
20-Confusion:
*delirium- is sudden onset and fluctuating impairment in cognitive
and consciousness
*dementia-progressive and irreversible decline in global cognitive
function (without impairment in consciousness)
Causes of confusion:
• Elderly
1. Infections-UTI, RTI
2. Electrolyte imbalance
3. Polypharmacy/recent change in medications
4. Stroke/subdural haematoma
5. Metabolic disturbance-hepatic, uraemic encephalopathy
6. Hypo or hyperglycemia
7. Cerebral metastases, tumours
8. Alcohol withdrawal syn
• Young
1. Recreational drug use and withdrawal
2. Alcohol withdrawal syn
3. Meningitis
4. Infections as above
5. Metabolic disturbances
Presenting illness:
• Confusion-sudden onset, short duration, may fluctuate during the day, is this a
dramatic change in behavior from baseline?, any previous episodes? Altered
consciousness (episodes of drowsiness and agitation), inattention (difficulty
focusing) , disorganized thinking(do you have difficulty following his/her
conversation?)
*systems review to look for the causes
• N/S
1. Meningitis/encephalitis-headache , fever, neck
stiffness ,seizure, photophobia, rash, behavior change
2. Stroke3.
Subdural haematoma- recent head injury/falls
• Respiratory system- RTI and pulmonary embolism
• Cardiac-CCF, MI
• GIT-hepatic encephalopathy, C.difficle diarrhoea
• GU-UTI, urinary retention
• Psychiatric-visual hallucinations and delusions can occur
Past medical history: as above
* In Parkinson’s disease (confusion is common due to side-effects
28
of dopaminergic medications)
Drug history- current drug regimen( dose change,new
medication, abrupt withdrawal of benzodiazepines and opiates)
*diuretics-hyponatraemia-confusion
*drugs causing confusion- levodopa, procyclidine for Parkinson,
TCA, SSRI, Opiates, steroids
*recreational drug use?
Social *
Personal-alcohol(delirium tremens,wernickes encephalopathy)
Plan of action:
• To determine the cause of confusion, thorough examination and investigations
are required
• It is usually reversible when the cause is treated
• Treatment is by treating the cause but if patient becomes violent or is in danger
to himself, sedation is required
Investigations:
• CBC, CRP, ESR
• Blood glucose
• S.electrolytes
• RFT
• LFT
• Urine microscopy and c/s
• ECG
• Urine toxicology screen
• TFT
• Blood culture
• CXR
• CT scan of head if needed
Treatment:
• General-nursing in quiet room with adequate lighting, clear communication,
reminders of time, place and person, have familiar objects from home around the
patient
• Specific- identify and treat the cause, haloperidol is used for sedation, also
olanzapine
21-Lower motor neuron facial nerve palsy

Causes : unilateral causes
• bells palsy
• ramsay hunt syndrome –vesicles
• parotid tumour/surgery/parotitis, middle ear infections,
cholesteatoma
• trauma-base of skull fracture, temporal bone fracture
• brain stem MS, Brain stem stroke(nuclear lesion)-check for
hemiparesis
• CPA tumour
29
• mononeuritis multiplex
Bilateral LMN FN palsy:
• sarcoidosis
• lyme disease
• myasthenia gravis,
• myotonic dystrophy-frontal balding, myotonic facies,
myotonic grip, percussion myotonia,
• fascioscapulohumeral dystrophy-winging of scapula,
proximal myopathy with wasting
• bilateral bells palsy
• GBS
Presenting illness:
• Bell’s palsy-acute sudden onset facial paralysis, posterior auricular pain,
decreased tearing, hyperacusis, taste disturbances, earache, poor eyelid closure,
tingling or numbness of the cheek/mouth. Associated with HSV
• Ramsay-hunt syndrome-vesicular rash on ear canal, auricle, mouth,
otalgia/hearing loss,vertigo,tinnitus. Associated with VZV
• Ear discharge(CSOM)
• Parotid region swelling
• CPA tumour-headaches, gait problem, hearing loss
• Exclude stroke-hemiparesis? Speech?
Past medical and surgical history- HTN, DM, parotid tumour,
CSOM, parotid surgery, trauma
• Examine 7th CN, 5TH CN, 8TH CN, look for vesicles in ear and
oral cavity, look for scars in mastoid and parotid region, look
for hemiparesis
• Ask about taste sensation and lacrimation
• Bell’s palsy is a condition that causes paralysis of the muscles in one side of
face. It is due to swelling of the nerve that supplies muscles of face called facial
nerve. The exact cause is unknown , possibly due to viral infection called
herpes
• It is a clinical diagnosis, but I would like to measure BP and check glucose
level, coz it is commonly associated with high blood pressure and Diabetes
• 7 out of 10 people recover completely with or without
treatment
• Treatment is with a steroid which can reduce the swelling of facial nerve, eye
care….
Investigations:
• CBC with ESR
• Blood glucose
• Nerve conduction studies
• audiometry
To look for the cause
30
• Infection screen-anti-HIV,RPR/TPHA
• MRI of brain stem
• Lyme serology
• VZV isolation in conventional cell culture, PCR , Tzanck test
(RH syndrome)
• Serum ACE, CXR(sarcoidosis)
Treatment:
General- eye care, face physiotherapy
Specific treatments: based on cause
Bell’s palsy- steroid
Ramsay-Hunt syndrome- oral steroids, oral acyclovir
Prognosis:
• 80% recover completely within 6 weeks to 3 months
22-Hoarseness of voice
DD:
• Hypothyroidism*, Goiter
• Laryngeal malignancy*
• Acute laryngitis(mostly viral)
• chronic laryngitis( fungal- steroid inhaler use)
• Reflux laryngitis-GERD*
• Vocal fold-polyp, nodule, cyst
• Bilateral vocal cord paralysis
• Overuse of voice(singer)
23-Meralgia paraesthetica
*it is an entrapment neuropathy of a lateral femoral cutaneous nerve *the
segmental origin is L2 and L3 and it is purely sensory with no motor fibers(so no
motor involvement)
*more common in males
Causes:
• Idiopathic entrapment under inguinal ligament just medial to Anterosuperior iliac
spine
• Injury –traumatic(pelvic fracture, seat belt injury), following surgery
• Mononeuritis multiplex-diabetes
• Pelvic-pregnancy, tensed ascites, pelvic tumours, retroperitoneal
haemorrhage(on anticoagulants)
• Obesity, tight fitting garments, belts
• Malignant infiltration of the nerve
• Lumbar disc-L2,3 root compressions
Clinical features
• Burning or numbness, pain down the upper lateral aspect of the thigh, may be
bilateral, symptoms are usually aggravated by standing and relieved by sitting
• Ask about injury, surgeries, diabetes, pregnancy, pelvic tumours etc
• Ask about danger signs-spinal cord compression
31
• Examination of lower limbs-motor(normal), sensory(loss in anterolateral aspect
of the thigh),
• pelvic compression test( the pain can be reproduced by deep palpation just
below the anterior superior iliac spine and also by extension of the hip
• Look for causes as per history
DD:
• Lumbosacral plexopathy-diabetic, neoplastic)
• Mononeuritis multiplex
• Lumber degenerative disc disease
• Lumber spondylosis
• Pelvic neoplasm
• Retroperitoneal haemorrhage
Investigations:
• Bed side: Pelvic compression test, lidocaine injection of the
nerve will abolish the pain
• Blood sugar
• USG of nerve
• Nerve conduction studies and EMG may be useful
• MRI neurography, MRI to investigate lumber plexus
• Ultrasound pelvic region
• X ray pelvis to look for fracture
Management :
Conservative initially
General :
• Physical therapy-TENS, Heat application
• Reduce weight if obese
• Avoid wearing constrictive garments/belts
Medical :
• NSAIDs, antricyclics, pregabalin for pain,
• Local steroid injections
• Treatment of underlying cause if any
Surgery: nerve decompression surgery
Prognosis: mostly self limiting
24-Myasthenia gravis
Stem- blurring of vision
Presenting illness:
• Double vision, droopy eye lids
• Proximal myopathy-worsens as the day progress
• Dysphagia, shortness of breath, slurring of speech
• Triggering/exacerbating factors-stress, surgery, viral
infection, medications(aminoglycosides, lithium, chloroquine,
b-blockers, phenytoin)
Past medical history: autoimmune diseases, thymectomy surgery
Drug history*
Personal-smoker, alcohol?
32
• Face- bilateral facial weakness, ptosis
• Eye-ptosis, complex opthalmoplegia, fatiguability
• Chest-sternotomy scars
• MG is a rare condition that causes muscle weakness that comes and goes. It
commonly affects the muscles that control eyes, face, swallowing and arms
• Will refer to the specialists doctor for further tests to see how well your nerves
are working and also blood tests
• Treatment involves avoiding the triggers, medication to improve the weakness
• If you develop severe breathing or swallowing difficulties, you may need urgent
treatment in the hospital…medic alert bracelet
Investigations:
• Bedside-ice pack and tensilon test
• Serology- anti-AchR antibodies, anti-MUSK antibodies
• EMG, repetitive nerve stimulation
• CT chest
• Spirometry
• Screen for autoimmune diseases
Management: MDT approach
General-avoid precipitant drugs
Medical:
• cholinesterase inhibitors-pyridostigmine
• immunosuppresants-steroids, azathioprine, cyclosporine, MMF
• I/V IG
Plasmapheresis
Surgical: Thymectomy if thymoma, thymic hyperplasia and
generalized MG with age 55 or less.
Medic alert bracelets
25-Peripheral neuropathy: mixed /sensory neuropathy

Causes to look for:
• DM
• Alcohol
• Drug induced
• Nutritional-vit B12 deficiency
• Hypothyroidism
• Vasculitis
• Infection-HIV, leprosy
• CMTD
Presenting illness:
• Sensory-Positive symptoms(pins and needles or tingling, pain(burning,
shooting , electric shock like), allodynia(abnormally painful or unpleasant
sensation to fine touch).
33
Negative symptoms-numbness to touch, cold or warmth. Distribution of sensory
loss or symptoms-stocking and glove?
• Motor-distal weakness-dropping things
• Autonomic-postural hupotension, sexual dysfunction, excessive sweating
• Ask for features of underlying causes -DM-Duration, admission for
DKA/hypoglycemias, latest HBA1c, other complications such as nephropathy,
retinopathy
Past medical history-DM, CLD, hypothyroidism, vasculitis, CKD
Drug history- INH, phenytoin,nitrofurantoin, amiodarone,
chemotherapy
Personal-alcohol*
Family history*
Physical examination-Lower limbs exam, look for charcot
arthopathy in DM
• It seems that you are suffering from peripheral neuropathy
• PN is a disorder when the nerves located in the periphery (which carries
sensation from periphery to brain) are damaged. The damaged nerves might not
send a pain signal even if something is harming you
• It is commonly associated with DM, due to high sugar levels destroying small
vessels supplying the nerves
• I will arrange some blood tests looking for causes esp Diabetes and treatment
will focus on treatment of the underlying cause. For the pain, I will give you
neuropathic pain killers
• Referral to foot specialists, diabetic nurse, nutritionist, physio and occupational
therapist
Investigations:
• NCS to confirm it
• Look for causes- CBC, fasting blood glucose, LFT, gamma
GGT, TFT, VIT b12, B1 assays, infection screen, vasculitis
screen
Treatment: MDT approach
• Physio, occupational therapy
• Neuropathic pain killers
• Treatment of underlying cause
• Foot care-special foot wears, splints etc
26-Proximal myopathy
DD:
• Endocrine : hypothyroidism, hyperthyroidism, cushing’s syndrome,parathyroid
disorders
• Drug induced-statins, steroids, zidovudine, amiodarone, chloroquine
• Inflammatory-dermatomyositis, polymyositis, PMR(with GCA)
• Alcohol
• osteomalacia
34
• NM junction disorder-Myasthenia gravis, LEMS
• Muscular dystrophies –FSHD, DMD,BMD
• Periodic paralysis
• Diabetic amyotrophy-very painful, sensory loss on thigh
• Systemic –Sarcoidosis, SLE, RA
• Infection-lyme disease, HIV, EBV
• Metabolic-Glgycogen storage diseases
Presenting illness:
• Symmetric proximal muscle weakness, onset , progression
• Look for underlying causes as above
Past medical history: as above
Drug history*
Family history-perdiodic paralysis, muscular dystrophies
Personal-alcohol? Smoker?
Occupational: housewife, muslim?-osteomalacia
• Test for proximal myopathy
• Tone, reflexes and sensory may be normal on limb exam
• Look for causes- thyroid(hand signs, eye signs, neck, deep tendon reflex),
Myositits(rash,gottron’s papules),
MG(partial ptosis, complex opthalmoplegia, fatiguability, facial muscle
weakness),
Cushing’s syndrome
Investigations:
To confirm muscle disease
• CK(creatine phosphokinase), LDH, LFT, Aldolase
To look for causes:
• CBC, ESR(PMR)
• TFT
• VIT D levels
• LFT(Alcohol)
• Urinalysis- myoglobulinemia
• RFT
• S.electolytes
• PTH level
• Muscle biopsy, anti-Ro, anti La antibodies , anti RNP
antibodies -Myositis
• EMG- MG, Myositis
• Genetic testing-muscular dystrophies
Treatment: according to cause, physiotherapy, counselling
35
Cvs cases
27-Hypertension
DD:
1. Primary
2. Secondary • Endocrine-primary hyperaldosteronism(conn’s
syndrome), cushing syndrome, pheochromocytoma, thyroid dysfunction,
acromegaly, congenital adrenal hyperplasia
• Renal- renal artery stenosis, PKD, CKD, GN
• Vascular-coartation of aorta, vasculitis, connective tissue disease(SLE,
scleroderma)
• OSA
• Drugs-cocaine, amphetamines
• Pregnancy induced pre-eclampsia/eclampsia
Presenting illness:
• Ask about above causes
• Target organ damage-heart failure, CKD, stroke, retinopathy, encephalopathy
• Primary-usually asymptomatic
• Uncontrolled HTN-headache, visual problem
• Conn syndrome- features of
hypokalaemia(weakness,muscle cramps, fatigue,palpitations)
• Cushing-weight gain, proximal muscle weakness, skin changes, depression,
new onset DM
• Pheochromocytoma- triad of episodic headache, sweating, palpitations.
Tremor, weight loss, flank pain.
MEN 2? NF? VHL?
• Renovascular HTN-sudden onset, resistant to antihypertensives, sudden onset
SOB(flash pulmonary oedema)
• Co-arctation of aorta-palpitations, cold feet, leg pain, muscle cramps
• Ask about connective tissue diseases
• White coat HTN
Past medical history : as above
Drug history-steroids, OCP? NSAIDs, steroids, ciclosporin
Side effects of antihypertensives: bendroflumethiazide(impotence
and gout)
Recreational-cocaine, amphetamine
Family history*
Personal-alcohol, smoking
Menstrual history
To look for causes:
• Pulse-radio radial and radio femoral delay, unequal
radial pulses, surgical scar for coarctation repair
• Cushingoid facies
• Renal bruit
• Evidence of connective tissue disease?
36
Look for target organ damage
• Ask for fundoscopy
• Heart failure, LVH
• NS-for stroke
• Features of CKD
• Ask for urine dipstick for proteinuria and haematuria
Investigations:
Baseline lab work up and also to see target organ damage
• Urine microscopy
• RFT
• S.Electrolytes
• Lipid profile
• Blood glucose
• ECG
To look for causes:
• Coartation of aorta- CXR, CT angiography, echo
• Conn syndrome-
1. screening tests-hypokalaemia, bicarbonate
level(metabolic alkalosis), plasma aldosterone to rennin
activity ratio(ARR) when greater than 20-25 is highly
suggestive, kaliuresis(urinary K excretion more than 30
mmol/day
2. confirmatory- urinary aldosterone level,s.aldosterone
level , salt loading test
3. CT scan adrenal gland
• Renovascular HTN-doppler flow USG , CT/MR angiography
Treatment:
Life style modification
Treatment of HTN and its cause
Treat target organ damage
28-Chest pain:
DD
• Cardiac- stable or unstable angina, MI, Pericarditis, aortic
dissection, AS
• Pulmonary embolism
• Lungs-pleurisy(pneumonia, pleural effusion, pneumothorax,
malignancy)
• GIT- GERD, esophageal spasm
• MSK-Costochondritis
• Herpes zoster
• Anxiety
GERD-heartburn, regurgitation, dysphagia, cough, wheeze, chest
pain more on lying down
Esophageal spasm-chest pain, dysphagia, regurgitation
37
Costochondritis-chest wall pain with history of repeated minor
trauma, exacerbated by movement and even in deep inspiration
29-Palpitations:
DD:
*cardiac
• AF
• SVT( A.flutter, AV nodal reentrant tachycardia-rapid and regular pounding in
the neck),
• Atrial/ventricular extrasystoles(typically a missed beat followed by strong beat,
improves on exercise)
• Ventricular arrhythmias-VT(presyncope/syncope)
• Causes of AF(Rheumatic heart diease, IHD, HTN, Thyrotoxicosis,
(rapid and regular palpitations are due to sinus tachycardia,
SVT, VT,,,,, Irregular palpitations-AF and extrasystoles)
*Non cardiac:
Thyrotoxicosis,
anaemia
Panic attacks, anxiety disorder,
drugs
30-AF:
Focused history:
• Palpitations-regular/irregular,
nature of onset ,
duration,
how fast,
have you counted your pulse?,
how frequently?
Ask to tap the rhythm, any triggers such as caffeine, alcohol,
exercise(precipitates VT)?,
how does it terminate?(SVT terminate by holding breath/straining-valsalva, extra
systoles terminate with exercise),
associated symptoms such as
chest pain, SOB, collapse? Presyncope? Anxiety?(perioral and finger tip
paraesthesias.
• Look for causes-features of thyrotoxicosis, rheumatic heart
disease,pheochromocytoma(headaches, flusing, sweating)
• Alarm symptoms-angina, syncope, stroke signs, CCF
Past medical history:
• Rheumatic heart disease, IHD, HTN, hyperthyroidism, stoke/TIA, DM, Vascular
disease( CHADS2-VAS)
Medication history:
• Thyroxine? Salbutamol? Recreational drugs-cocaine, amphetamine?
• Drugs that prolong QT segment may precipitate polymorphic
VT( Macrolides, quinidine , amiodarone, ssri, TCA)
38
Personal history-smoker? Alcohol, caffeine
• Pulse-irregularly irregular
• Eyes and face-thyroid eye signs, malar rash
• Neck-goiter, carotid bruits
• Heart-any murmur?
• Lung bases-fine crepts for heart failure
• I think the cause of your palpitation is an irregular heart beat called atrial
fibrillation. The cause is often not found but we will look for underlying problems if
any and treat them
• The fact that you complain of chest pain and sob may mean a reduced blood
supply to your heart
• We will need to confirm with ECG and investigate further with ultrasound scan
of your heart(echo), may need 24 hour measurement of your heart rhythm, and
dye test to see blood supply in your heart.
• We can treat AF by getting the heart back to normal rhythm or try stopping
beating it fast. We may have to use blood thinning agents as AF is a risk factor
for formation of blood clots esp in heart.
Investigations:
• Resting ECG, 24 hr ECG monitoring(holter monitor)
• Echocardiogram
• Coronary angiogram, stress echo, myocardial perfusion scan
• Implantable loop recorders, electrophysiological studies
• CBC-anaemia
• TFT
• S.electrolytes
Treatment :
Paroxysmal AF:
• Rhythm control strategy is preferred: best achieved by DC
cardioversion following several weeks of anticoagulation,
and followed by B-blockers/amiodarone
• Rate control-B-blockers, calcium channel
blockers(verapemil),amiodarone, digoxin(ABCD)
Persistent and permanent AF:
• Rate control strategy is preferred
• Anticoagulation with warfarin/ novel anticoagulants
according to CHADS2-VASC score
Other therapies-radiofrequency ablation
Treatment of risk factors
CHADS2-VASC score(score of 2 or moreanticoagulation)
C-CCF(1)
H-HTN(1)
39
A-age 75 or more(2)
D-DM(1)
S-Stroke/TIA/previous thromboembolic disease(2)
V-vascular disease(MI,PVD)-1
A-age(65-74)-1
SC-Sex Category(female)-1
31-Uncomplicated MI 5 weeks ago, now presents with fatigue:

Patient Information:
AGE-45/F, RR-22, pulse-56, Bp-105/65, Spo2-96
DD to think of:
• Anaemia(GI bleed)
• CCF
• Postural hypotension
• Fatigue due to b-blocker(if given)
• Dehydration secondary to AKI by ACE inhibitor
• Electrolyte imbalance
Clinical communication skills
History:
• Obtain detail of recent MI-how it happened? How
investigated? How treated? Cardiac rehab?
• Establish nature of lethargy( ?generalised weakness, dizzy
while standing,
• Ask about chest pain(recurrence)
• Exclude heart failure
• Look for features of anemia( any bleeding?)
Past medical and surgical history- about MI, PCI
Drug history:
• current medication (aspirin 75mg od, ramipril 10mg od,
bisoprolol 5mg od, clopidrogrel 75mg od, atorvastatin 80mg
hs, GTN spray sos).
Ask about any side effects from it? Headache due to use of
GTN, Bleeding, postural hypo due to ramipril
Any recent change in dosage? (ramipril increased by gp from
5 to 10mg od 2 weeks ago)
Compliance?
No regular past medication
Allergy ?
• Relevant personal history-smoking, alcohol
• Social history
• Occupational history
• Relevant family history
• Check pulse, offer to examine lying and standing BP
• Check anemia
40
• Listen to heart and lung bases
• Asks for/look at observation charts
Any concerns or questions?( is it a heart attack again? Is
it due to drugs?
Clinical judgement
Offer Immediate Investigations :
• FBC(Anaemia)
• Urea and electrolytes
• RFT (to exclude AKI)
• Ecg(to exclude MI)
Explaining that it could be coz of ACEi leading to drop in BP
while standing up. Unlikely to be MI, but will exclude with
ECG.
Would advise withholding ACEI and restarting at lower dose.
Probably does not need to stay in hospital once AKI and GI
bleed is excluded, could go home for instructions for GP
follow up.
*Physical signs: identifies that patient is not in shock but
only postural hypotension
DD:
• Postural hypotension due to increased dose of ramipril(main)
• Lethargy induced by b-blocker
• Dehydration secondary to AKI due to ACEi
41
GIT cases
32-Bloody diarrhoea:
DD:
• Infective dirrhoea(shigella, pseudomembranous colitis(CD), CMV colitis)
• IBD
• Bowel malignancy
• Behcet’s disease( GI symptoms like IBD, anterior uveitis, saggital sinus
thrombosis, cranial nerve palsies, ulcers and pathergy, arthritis)
• Radiation colitis
• Ischaemic colitis
IBD:
Focused history:
Presenting illness:
• Diarrhoea-duration, frequency, blood/mucus
• Associated symptoms-abdominal pain, fever
• Mouth ulcers, perianal symptoms
• Alarm symptoms- features of malignancy(extreme weight loss, anorexia,
anaemia), features of intestinal obstruction, sepsis(fever, rigors)
• Extraintestinal features of IBD-eye redness, joint pain, skin changes
Past medical and surgical history:
• PSC?, pyodermagangreonosum, any past colectomy?
Drug history:?
Personal-smoker?
Family, social , occupational history
Travel history*
• Hands-clubbing, leukonychia
• eyes-anaemia, anterior uveitis, jaundice
• mouth ulcers
• abdomen-laparotomy scars, sites of previous ileostomy and colostomy,
abdominal masses
• skin-EN, PG
• would perform digital rectal examination DRE
• I think your symptoms are related to a condition called IBD, which is caused
due to overactive immune system leading to inflammation of bowels
• First, we need to exclude bug infection as the cause of your diarrhea by taking
stool samples and start treatment right away
• We need to perform a test from back passage with a tube with camera in it and
take tissues from the bowel for confirmation , for which I will refer to my bowel
consultant
• It is usually managed with medications and sometimes surgery is occasionally
needed to remove the affected bowel.
Investigations:
42
• CBC(anaemia), ESR, CRP
• S. Albumin
• Stool for microscopy and c/s
• Sigmoidoscopy/colonoscopy and biopsy
33-Chronic diarrhoea
DD:
• IBD
• IBS
• Infective diarrhoea/small bowel overgrowth
• Celiac disease
• Thyrotoxicosis
• HIV infection
• Colorectal cancer
• Chronic pancreatitis
• Lactose intolerance
• Bile salt malabsoption
• Carcinoid
Presenting illness:
• Diarrhoea-focus on above DDs
Past medical history: Thyroid problem, systemic sclerosis,
Chronic pancreatitis, celiac disease, dermatitis herpetiformis
Past surgical history-bowel resection?
Past investigations?
Drug history-laxative abuse?
Family history-colon cancer
Personal-smoking and alcohol
Social history-does diarrhoea interfere with work?
Travel history*, sexual history*
Menstrual history
Physical examination: depends on cause from history
• IBD-clubbing,leukocychia, mouth ulcers, abdomen(stomas, surgical scars, iliac
fossa mass), erythema nodusum/pyoderma gangreonosum
• Celiac disease-dermatitis herpetiformis, anaemia
• Malignancy-anaemia, cachexia, abdominal mass
• Thyrotoxicosis-hand , eye and heart signs
Investigations: according to cause
• Stool microscopy and culture
• CBC, S.Electrolytes, RFT, Blood sugar
• TFTs
• Anti-HIV
• Colonoscopy and biopsy
• Celiac serology
Treatment:
43
According to cause
34-Coeliac disease
Can present as:
• Dermatitis herpetiformis
• Diarrhoea, abdominal pain, weight loss
• Anaemia
DD:
• IBD
• Infective diarrhoea
• Chronic pancreatitis
• IBS
• Lactose intolerance
• Bacterial overgrowth
Focussed history:
• Diarrhoea-consistency, frequency , duration, any mucus, any blood, any
tenesmus, exacerbating factors(gluten, lactose), associated with fever?
steatorrhea
• Abdominal pain, mouth ulcers,
• Alarm symptoms(weight loss, maelaena, haematemesis, symptoms of
lymphoma)
• Dermatitis herpetiformis-blistering itchy rash in extensor surfaces, aggravated
with gluten
• Malabsorption- bleeding? Osteomalacia(proximal myopathy),
• Autoimmune diseases-DM, Thyroid disorders, pernicious
anemia, CTD
Drug history
Personal, social and family history
Occupational…?chef?
Dietary history
• ?cachectic
• Koilonychias, anaemia
• Rash-pruritic vesicular rash on extensor aspects
• Neck-?goiter
• Abdomen-normal, to exclude IBD.
• Your symptoms are suggestive of a condition called celiac disease. It is the
inflammation of lining of gut caused by allergy to gluten containing foods.
However we need to exclude other inflammatory conditions as well
• We will do some blood tests and confirm by taking a piece of tissue from the
small gut with the help of a tube with camera in it, which is a safe procedure
44
• It responds to exclusion of gluten from the diet. Gluten is found in anything
containing wheat(pasta, bread etc)
• Will ask dietician to see you for the diet, GP can prescribe special prescription
diet
• Speak to the occupational therapist/employer for different job in the same
company(if pasta chef)
• Celiac support groups
Investigations:
• CBC-anaemia
• Stool RE and culture(to exclude infective dirrhoea)
• S.albumin, s.calcium, vit D
• Serological tests- IgA Tissue transglutaminase antibodies,
anti-endomysial antibodies, IgA gliadin,reticulin
• Upper GI endoscopy and duodenal biopsy
• Skin biopsy-immunoflorescence will show IgA deposition in
dermoepidermal junction
• Baseline DEXA scan
Management :
• Strictly gluten free diet
• Correct nutritional deficiencies
• Immunosuppresants(prednisolone and azathioprine) if not
responding to diet exclusion
• Dapsone for DH
35-Dysphagia
DD:
• Scleroderma*(esophageal dysmotility , stricture)
• Muscular disorders*-Dermatomyositis, polymyositis, muscular dystrophies
• Motility disorders*- achalasia, scleroderma, diffuse esophageal spasm
• Esophatitis*-GERD, Infectious(HIV, candidiasis), radiation, NSAIDs
• Malignancy-esophageal, oral*
• Structural- esophageal stricture, webs, rings
• Central-MS, MND, CP, stroke, GBS, Brain trauma, brain tumours
• Endocrine-secondary myopathies in cushings, thyroid dysfunction
• Psychogenic
Presenting illness:
• Dysphagia- onset, duration, progression, solid or liquid or
both, pain? Where the food gets stuck?
Haematemesis,malaena, weight loss, change in bowel habit,
regurgitation
• Ask about DDs
Past medical history* as above
Drug history- steroids? NSAIDs
• Look for causes
45
• Examine mouth, neck
36-Lower GI bleed
Causes:
• Anatomic-diverticulosis/diverticulitis of colon or small intestine
• Inflammatory- IBD
• Infectious-salmonella, shigella, pseudomembranous colitis
• Neoplasm-colonic, rectal, anal malignancy, rectal polyps, small intestinal
malignancy
• Haemorrhoids , anal fissures
• Vascular-angiodysplasia, ischaemic colitis,radiation induced colitis
• AV malformations
• Coagulopathy
Presenting illness:
• Stool-bright red blood(left side of colon), maroon stool(right side of colon), 1st
or recurrent episode?
• Features of shock
Look for causes:
• Infectious and IBD-fever, abdominal pain, mucus, oral ulcers, joint pain, eye
redness
• Diverticular - older patient, painless bleed, mild abdominal cramp
• Ischaemic colitis-abdominal pain, diarrhoea, bleeding, may have cardiovascular
diseases
• Haemorrhoids-blood drops on toilet paper or toilet bowl, stools streaked blood,
• Angiodysplasia-painless bleed, repeated bleed, iron deficiency anaemia,
syncope
Past medical history- as above
Family history-colon cancer
• Pulse, BP
• Anaemia
• Abdomen-?mass, features of IBD
• Perform DRE
Investigations:
• FBC, LFT, RFT, S.elctrolytes, clotting profile
• Blood grouping and cross match
• Colonoscopy, capsule endoscopy, double ballon enteroscopy,push
enteroscopy, OGD
• Helical CT scan
• Radionuclide scanning
• Mesenteric angiography, Meckel scan
Treatment:
• Stabilize the patient with ABCDE approach
• Treat according to cause –localize the site of bleeding with colonoscopy-
coagulation and injection with vasoconstrictors(vasopressin, epinephrine) or
sclerosing agents(absolute alcohol) , embolization with gelatin sponge,
46
polyvinyl alcohol…., surgery
37-Malaena:
*black tarry stool
Causes:
• Upper GI bleeding due to any cause-PUD, variceal bleed,
erosion, Mallory weiss tear, malignancy, drugs(warfarin),
thrombocytopenia, haemophilia, vascular malformation
• Bleeding from ascending colon, small intestine
Presenting illness:
• Stool-jet black, tar like, and sticky, duration
• Ask for haematemesis, abdominal pain, dyspepsia,
dysphagia, odynophagia, abdominal distension(CLD)
• Features of shock
Past medical history- PUD,CLD, IBD, GI malignancy
Drug history-NSAIDs, steroids, anticoagulants, iron tablets
Personal-alcohol , smoking
• Pulse, ask to measure BP
• Stigmata of CLD
• Anaemia
• Ask to perform DRE to confirm malaena
Investigations:
• FBC, UnE, LFT,RFT, clotting profile, PT, INR
• Blood grouping and crossmatching
• ABG
• USG whole abdomen
• OGD
• Capsule endoscopy and colonoscopy may be required
Note: fall in haemoglobin and rise in urea:creatinine ratio is an
indicator of Upper GI bleed
Treatment:
• ABCDE approach to stabilize the patient
• OGD –and treat based on the underlying cause
38-GERD
DD:
• PUD
• Gastritis
• Gastric malignancy
• Pancreatitis
• Cholilithiasis/cholecystitis
• IHD
• Esophagitis, barret’s esophagus
• achalasia
47
• Functional dyspepsia
Presenting illness:
• Typical(esophageal) symptoms-heart burn(retrosternal, occurs after eating or
when lying supine or bending over), regurgitation, dysphagia
• Atypical-cough, chest pain, wheezing, aspiration pneumonia, asthma
• Exclude above DDs
Past medical history- PUD, gastritis
Surgical history-hiatus hernia repair, gastric surgery
Drug history-NSAIDs, steroids, bisphosphonates ,,,, drugs
such as nitrates , calcium ch antagonists, theophyllines
precipitate reflux
Personal-smoking , alcohol
Dietary /life styles/obesity?-when do you sleep after eating?
How many pillows?
Family history –of gastric cancer
concern
• GERD is a condition where the acid from the stomach leaks up into the gullet
(esophagus). It usually occurs due to the weakened ring of muscles at the bottom
of gullet
• Your symptoms are consistent with GERD and there are no danger symptoms
such as unexplained weight loss and difficulty swallowing which would need
further tests.
• So, I will prescribe you some medications to lower down the acid level in your
tummy for 4-8 weeks and review the response. You also need to change your
lifestyle-need to lose weight, avoid smoking, alcohol, avoid large meals, and
avoid immediately sleeping after meals and need to elevate the head end while
sleeping.
• If it doesn’t respond to the medication and lifestyle changes..Will refer to bowel
doctor for further tests such as breath tests and endoscopy tests
Investigations:
• Endoscopy- to look for complications of reflux such as
esophagitis, , strictures, barret’s esophagus) and to see
anatomy(hiatal herinia, strictures, masses)
• Manometry-determine lower esophageal sphincter pressure
• Ambulatory 24 hour PH studies/testing
• Test for H pylori-carbon-13 urea breath test/ stool antigen
test(keep 2 weeks wash out period of PPI)
Treatment:
1. General-lifestyle modifications
• Losing weight
• Avoid alcohol, smoking, citrus fruits, tomato based products
• Avoiding large meals
• Waiting 3 hours after a meal before lying down
• Elevating the head of bed by 8 inches
2. Pharmacologic- trial of PPI initially
48
3. Surgery-laparoscopic fundoplication, sleeve gastrectomy
Hematology
39-Deep vein thrombosis
DD:
• Cellulitis
• Compartment syndrome(h/o trauma, on anticoagulants)
• Ruptured baker’s cyst(h/o RA)
Presenting illness
• Painful calf swelling- one or both legs? Extent of swelling, redness, warmth
• DD- fever, h/o trauma, h/o joint pain/RA
• Exclude PUL embolism- Shortness of breath, haemoptysis, chest pain
• Asses risk factors-
Past medical history: Cancer, thrombophilias, previous
thromboembolic diseases, CCF, Nephrotic syndrome
Past surgical history-prolonged immobilization, major
surgeries, fractures
Drug history- OCP
Personal history- smoker?*
Travel history- recent long haul flight?
Family history/social/occupational history
Pregnancy? *
• Unilateral leg swelling , knee joint, pulses
• Pul embolism- tachycardia, JVP, loud p2? Lungsconsolidation/
pleural rub
• Look at observation chart
• You may be suffering from a condition called DVT. It is development of clots in
veins of the leg
• If left untreated, the clot may break and impact in the blood vessels of lungs
which can be fatal
• I will arrange a Doppler USG scan of the leg to confirm it and meanwhile as the
suspicion of DVT is high, you will have to commence the treatment immediately-
blood thinning agent(LMWH). Once confirmed you will be given blood thinning
agent called warfarin to be taken for 3-6 months (decision will be taken by blood
doctor).
Investigations:
• Doppler USG of leg
• CBC-Thrombophilic (polycythaemia, thrombocythaemia)
• D-dimer
• Look for causes- thrombophilia screen, cancer screen
49
• If suspected pul Embolism-ECG, CXR, CT Pulmonary
angiogram
Treatment:
• LMWH followed by warfarin (3 months for those with
temporary risk factors, 6 months for those with idiopathic
DVT and permanent risk factors)
40-Henoch schonlein purpura:

DD
• Vasculitis(small vessel vasculitis, including
cryoglobulinemia), vasculitis due to RA, SLE, Bechcets syn,
PAN
• Thrombocytopenia, DIC, Haemophilia
• Drugs-penicillin, sulphonamides
• Infection –meningococcus, hep B, C
Presenting illness:
• Rash : location: lower limbs and buttocks, itchy? Blanch
able? Duration? Pain? What precipitated?
• Abdominal pain, bloody motion
• Joint pain
• Precipitant- recent upper RTI
• Alarm signs- reduced urine output, haematuria, leg swelling?
• Exclude other vasculitis-respiratory symptoms?
Fever(meningococcal), connective tissue diseases ? bleeding disorders?
Past medical history- CTD, vasculitis, ITP
Drug history with allergy history: penicillins, sulphonamides,
ACEi, thiazides
Personal, social, occupational, family history
• Skin survery- non blanching palpable purpuric rash esp. on
extensor aspects of lower limbs and buttocks
• Joints- swelling?
• Check pedal oedema(nephrotic syn)
• Ask to measure BP, dip urine for haematuria
• I think the cause of your symptoms and rash may be due to a condition called
HSP. It is caused by inflammation of small blood vessels.
• We will do some blood tests and urine tests and refer to skin doctor for skin
biopsy. Sometimes, it can affect kidneys as well, we need to ensure that it is not
affected as well and needs follow up for the same reason.
• I will give painkillers and NSAIDs for your joint pain and the condition should
resolve by its own. Rarely, we may have to give steroids for this condition.
Investigations:
• FBC, CRP, ESR
• Urine dipstick and microspopy
50
• RFT
• Coagulation profile
• Abdominal imaging if severe abdominal pain
• Skin biopsy( IgA and C3 deposition seen under immunoflorescence), renal
biopsy(IGA nephropathy)
Management :
• Spontaneous resolution
• Analgesics(NSAIDs may be avoided in active phase of disease )
• Immunosuppressive therapy on severe renal involvement
• Follow up to see renal involvement
41-Hereditary hemorrhagic telangiectasia/ Osler-Weber- Rendu-Syndrome

Presents with anaemia , recurrent epistaxis and vascular lesions in mucous
membrane
Presenting illness:
• Epistaxis- frequency ,severity
• GI bleeding
• Anaemia-exertional dyspnea
• Red spots in mouths and lips
• SAH or recurrent headache(cerebral AVMs
• Pulmonary AVM-SOB
• AVM in liver-? CLD?
• Look for other causes of anaemia, other causes of telangiectasia(SS)
Medical history- anaemia
Medication history- iron tablets, blood transfusion
Family history* A.D
Personal , occupational , social history
• Pallor
• Telangiectasias of face, lips, tongue,oral cavity
• Bruit in the lung?
• ?stroke
• I think your symptoms are due to a condition called HHT, where blood vessels
bleed without any warning and it can make you anaemic leading to tiredness
• I will have to check your blood to see how anaemic you are and refer for further
tests to see any abnormal blood vessels in different organs or not( CT
angiogram)
• The treatment involves treating the anaemia with iron tablets, or blood
transfusion and also trying to stop the blood vessels from bleeding
• This is an inherited condition, I will refer to geneticist if you are thinking of
having children.
Investigations: it is a clinical diagnosis
• CBC-anaemia, platelet count
• Clotting profile
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• Screening of AVMs with CT/MR angiography
Treatment:
• Oral or i/v iron
• BT
• To reduce bleed-tranexamic acid, aminocaproic acid,
estrogen therapy, cauterization, laser, AVMs-embolisation,
surgical resection
• Genetic counselling
42-Paroxysmal Nocturnal Haemoglobinuria

*50% die of thrombotic complications
*break down of RBC(believed to be triggered by acidosis
during sleep)-release of haemoglobin into urine-dark
coloured urine in the morning
*triad of haemolytic anaemia, thrombosis and
pancytopenia
DD:
• Aplastic anaemia
• Haemolytic anemias
• Paroxysmal cold haemoglobulinemia
Presenting illness:
• Passage of dark urine during night and morning with partial clearing during the
day
• Haemolytic anaemia-look for symptoms of anaemia
• Thrombosis-hepatic vein(Budd-chiari syndrome), cerebral(stroke, cavernous
sinus thrombosis), renal vein thrombosis, mesenteric vein thrombosis(abdominal
pain, may lead to bowel infarction). Dermal vein thrombosis(raised , painful
nodules in the skin-necrosis), portal vein thrombosis, splenic vein thrombosis
• Pancytopenia-bleeding,infections
• Erectile dysfunction
• Features of reduced NO levels(Hb combines with NO and depletes NO)-
leading to vasoconstriction-abdominal pain,bloating, headaches, fatigue,
esophageal spasms, erectile dysfunction, pulmonary hypertension
• Renal failure-pigment(heme and iron) nephropathy, renal vein thrombosis,
tubular obstruction with pigment casts
• Triggers-infections,alcohol, exercise, stress
Past medical history-thrombosis
Drug history-OCP? Advise not to use OCP(risk of thrombosis)
• Anaemia/pallor
• Skin ecchymoses
• Fever?
• Abdomen-hepatomegaly, ascites(Budd-Chiari syndrome),
absent bowel sounds(bowel necrosis)
• Papilledema in presence of cerebral vein thrombosis
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• Tender skin nodules
• PNH is a rare, acquired life threatening disease of the blood, characterized by
breakdown of RBC leading to anaemia, blood clots and impaired bone marrow
function.
• We will do some blood tests today and refer to blood doctor for confirmation
• The disease may vary from simple anaemia to lifethreatening problems
Investigations:
• CBC and peripheral blood film
• Tests for intravascular haemolysis- elevated LDH, elevated reticulocyte count,
low/absent haptoglobin, haemoglobinuria and haemosiderinuria
• Flow cytometry of peripheral blood( measures % of cells that are deficient in
glycosyl phosphatidylinositol – anchored proteins(GPI-APs))
• Bone marrow analysis: erythroid or hyperplastic bone marrow during hemolytic
phase and hypoplastic bone marrow in the aplastic phase
• Imaging studies for thrombosis
Treatment:
• Stem cell transplantation only curative therapy
• eculizumab(monoclonal antibody)-reduces intravascular haemolysis(mainstay
of treatment)
• Bone marrow hypoplasia - bone marrow transplant, antithymocyte globulin
• Anaemia-leuko-depleted packed RBCs, iron, folic acid
• Treatment of thrombosis
• Corticosteroids during haemolysis
Complications:
• Thrombosis
• Complications of pancytopenia-infections, anaemia
• Leukaemic transformation
43-Polycythaemia rubra vera

Stem: history of itching for 10 months. Ankle joints pain (on and
off). Father died of blood cancer.
Provisional diagnosis: PRV with gout due to hyperurecemia
DD:
• autoimmune liver disease
• IBD associated arthritis with PSC/PBC
Presenting illness:
• Blood hyperviscosity- headache, dizziness, vertigo, tinnitus, visual
disturbances, angina, intermittent claudication
• Pruritus exacerbated by warm bath-histamine release
• Bleeding complications-epistaxis, gum bleeding, ecchymoses, GI bleed
• Thrombotic complications-DVT, thromboembolism, stroke, budd chiari
syndrome
• Abdominal pain due to mesenteric vein thrombosis, peptic ulcer disease
• Hyperuricemia-increasd cell turn over-gout
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Past medical history-thrombosis, embolism, stroke, gout
Personal-smoker?
Family history*
• Evidence of venesection
• Plethoric face
• Polycythaemia/injected conjunctival vessels
• Splenomegaly/hepatosplenomegaly
• Your symptoms are likely due to a condition called PRV •
PRV is a rare bone marrow disorder in which your body produces too much of
RBCs. When there are too many RBCs in the blood, it becomes thicker and flows
more slowly and begin to form clots in the vessels cutting down blood supply
reaching to vital organs such as brain, heart
• I will do some simple blood tests today and refer to blood doctor for further
confirmation
• Treatment involves routine drawing of excess blood and medications to prevent
blood clot. It is an incurable condition, but treatments are available to prevent
complications.
Investigations:
• Pulse oximetry to measure arterial oxygen saturation(to rule out hypoxia as a
secondary cause of erythrocytosis)
• CBC,,,increased three cell lines, Increased Hb, increased haematocrit
• Red blood cell mass
• JAK2 mutation and serum erythropoietin level( positive JAK2 mutation and low
Epo level confirms diagnosis)
• Bone marrow biopsy(not usually necessary)
• S.uric acid
• USG abdomen to look for hepatosplenomegaly
Treatment:
• Phlebotomy(to keep haematocrit level below 45%)
• Aspirin 81 mg daily if no contraindications
• Hydroxyurea(cytoreductive agent) for those at high risk of
thrombosis. Others are interferon alpha, busalphan, JAK
Inhibitors ruxolitinib
Complications
• Thrombosis-DVT, stroke, Embolism
• MI
• Bleeding
• Leukaemic transformation(AML)
• Myelofibrosis
• Hyperuricemia-gout
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44-Sickle cell anaemia
Due to mutated form of haemoglobin, HbS
Autosomal recessive disorder
Clinical features
Vaso-occlusive crisis (occurs when microcirculation is obstructed by sickled
RBCs causing ischaemic injury to the organ. Present as pain crisis and can affect
any part of body. Pain is accompanied by fever, malaise
• Abdomen-resemble acute abdomen, reactive ileus, solid organ
infarctions(splenic infarction and autosplenectomy, papillary necrosis of kidneys)
• Bones- severe deep pain in bones due to bone marrow infarction, avascular
necrosis
• joints and soft tissues: dactylitis, arthritis(hand foot syndrome)
• Facial pain
• Anaemia-haemolytic, chronic
• Aplastic crisis- due to infection with parvovirus B19(fever, rash, malaise )
• Splenic sequestration-rapid enlargement of spleen with life threatening anemia,
with high reticulocyte count
• Lungs : Acute chest syndrome(chest pain, fever , cough, tachypnea,
leukocytosis, pulmonary infiltrates in upper lobes). Pulmonary hypertension
• CNS-stroke, seizures
• Heart- due to microinfarcts and chronic anaemia, hemosiderin
deposition(hemolysis and BT) in myocardium
• Gall stones-due to hemolysis
• Eye-retinitis
• Leg ulcers
• priapism
• Infection with encapsulated bacteria
• Growth retardation, delayed sexual maturation
Signs:
Anemia, jaundice, abdomen (cholecystectomy scar, splenectomy
scar/splenomegaly), heart- heart failure? Lungs-pulmonary HTN,
acute chest syn, leg ulcers, neurological exam to look for deficicts
Triggers for vaso-occlusive crisis
• Hypoxemia
• Dehydration
• Cold temperature(vasoconstriction)
Investigations:
• Confirm with Hb electrophoresis-HbS
• CBC , Reticulocyte count, PBF-haemolytic anaemia
• RFT, LFT, S.electroltes, urine analysis
• Iron prolife-iron overload
• Imaging-based on organ involvement
Screening of HbS at birth , prenatal testing via CVS
Treatment:
Pharmacological
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• Hydroxyurea- increases total and fetal Hb
• Management of vaso-occlusive crisis- for acute chest syn(oxygen, antibiotics,
analgesics,hydration, blood transfusion, bronchodilators)
• Management of chronic pain syndromes-NSAIDs, opioids, TCA
• Management of chronic hemolytic anaemia-folic acid supplementation
• Prevention and treatment of infectionsvaccination( pneumococcal,
meningococcal , influenza)
• Management of various organ damages
• Prevention of stroke-long term transfusion therapy, hydroxyurea
Non-pharmacological
• Stem cell transplant-can be curative
• Blood transfusions, erythocytapheresis/automated red cell
exchange procedure
Renal cases
45-Diabetes insipidus
Stem: history of head injury, polyuria
DD
• Diabetic insipidus(central)-decreased secretion of ADH
• Nephrogenic DI(resistance to ADH action in the kidney)
• DM
• primary polydipsia
Presenting illness:
• polyuria
• polydipsia
• nocturia
• history of trauma
• weight loss, fatigue
Past medical/surgical history: head trauma/surgery, DM,
psychological disorder
Drug history
• Dehydration?
• Scars in head
• DI is a rare condition where you produce large amount of urine and often feel
thirsty. It is not related to DM.
• It is caused due to a lack of hormone(vasopressin) or when hormone doesn’t
function in the kidneys
• Treatment is replacement of the hormone and correction of fluid balance
• Will do some blood tests and refer to endocrinologist who will be doing more
tests and give you the treatment.
Investigations:
56
• Simultaneous urine and plasma osmolarity( low urine
osmolarity(<200mosm/kg), high plasma osmolarity)
• Blood glucose, s.electrolytes
• Plasma ADH level(low in central DI)
• 24 hour urine collection for urine volume
• Urine specific gravity
• Water deprivation test followed by administration of
vasopressin- in central and nephrogenic DI , urine osmolality will be less than
300mosm/kg after water deprivation.
After ADH administration, the osmolality will rise to more than 750mosm/kg in
central DI but will not rise at all in nephrogenic DI
• MRI pituitary gland
Treatment:
• Fluid replacement
• Desmopressin(drug of choice) in central DI, others are
synthetic vasopressin, chlorpropamide, thiazides, NSAIDs
46-Haematuria
Causes: local and systemic
• UTI
• Renal stone
• Renal tract malignancy
• GN-IgA nephropathy, post-infectious GN, Alport syndrome, sickle cell
nephropathy
• PKD
• Pulmonary-renal syndromes-goodpasture syndrome, wegener’s syndrome,
microscopic polyangitis
• Other VasculItis-PAN, HSP
• Connective tissue diseases- SLE, Slceroderma
• Radio/chemotherapy
• Drugs-anticoagulants
• Bleeding disorders
Presenting illness:
• Haematuria-onset, number of episodes, any clots?,
do you notice blood at the beginning(prostrate and uretha) or throughout(bladder
and above) or at the end of urination( bladder base, prostrate)?
• Frothy urine-proteinuria
• Look for causes
1. UTI-dysuria, frequency,urgency
2. BPH-obstructive symptoms
3. Renal calculi-renal colic, calcuria
4. IgA nephropathy-RTI followed by haematuria
5. Pulmonary-renal syndromes- haemoptysis, RTI, sinusitis
6. Connective tissue diseases-SLE, Scleroderma
7. Vasculitis- HSP(Rash, arthralgia, abdominal pain)
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8. Renal tract malignancy-weight loss, anorexia
9. Post exercise? Post trauma?
Past medical history –bleeding disorders and above
Drug history-oral anticoagulants, cychophosphamide,
statins(rhabdomyolysis)
Recreational drug use-estacy, heroin(rhabdomyolysis)
Family history-
Occupational- work in dye, rubber industry?
Personal-smoker?
Travel history-fresh water swimming(schistosomiasis-
SCC)
• Puffy face?
• Measure BP
• Abdomen- PKD
• Features of SLE, Scleroderma, vasculitis
concern:
• You have a condition called haematuria-blood in urine
• It needs to be investigated initially with urine analysis and simple blood tests
and USG of renal tract. Further investigations will depend on the initial results,
may need kidney biopsy
• Will refer to kidney doctor after the results of the initial tests, treatment will be
according to the cause
Investigations:
• Urinalysis for blood , protein, leukocytes, casts. Mid stream urine for c/s
• CBC, ESR
• RFT, s .electrolytes
• 24 hour urinary protein, urine albumin creatinine ratio
• Clotting screen(bleeding disorder)
• USG renal tract, plain x ray KUB, CT KUB
• Autoantibody screen-SLE-ANA, anti ds-DNA,
C-ANCA(wegener’s), P-ANCA(microscopic polyangitis), anti- GBM(Good-
Pasture)
• CXR(Pulmonary haemorrhage
• Renal biopsy
Treatment: according to cause
Eye cases
47-Diabetic retinopathy:
DD for gradual loss of vision:
• Diabetic retinopathy
• Hypertensive retinopathy
• Chronic glaucoma
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• Cataract
• Retinitis pigmentosa
Presenting illness:
• Vision-gradual deterioration, diurnal variation? Double vision? Pain? One eye
or both? Floaters, flashes or perception of curtain over vision(RD or retinal tear)
• DM-duration, how well controlled? Latest HBA1C? any other complications
such as nephropathy, p.neuropathy? frequency of hyper or hypoglycemia? When
was last opthalmological check up?
Past medical history and surgical history: DM, HTN, high cholesterol levels,
MI, stroke , any laser surgery?
Drug history and allergy: insulin or oral HGA, compliance?
Personal-smoker?
Family history
Occupational : driver?
Social history
Pregnancy?
• Visual acuity- drop in vision usu. Suggests maculopathy
• Fundoscopy- look in anterior eye for cataracts, retina for diabetic changes,
photocoagulation scars
• Check visual fields and eye movements
• Ask to check BP, dip urine for glycosuria
• I think the reason why your eyesight has deteriorated is because , diabetes has
affected the blood vessels in the back part of eye called macula, which is
important for vision
• I will ask eye doctor to see you urgently to confirm the diagnosis. Meanwhile, I
will help your blood glucose level to keep under control. And it is essential that
you stop driving and inform DVLA until we know how severely your eyesight
has been impaired.
• The eye doctor will most likely need to perform a laser treatment on the blood
vessels on the back of your eye. It is usually painless.
Investigations:
• Fasting blood glucose, HbA1c, lipid profile, urine for albumin, RFT
• Eye-fluroscence angiography, OCT, B scan ultrasonography
Treatment :
• Good glycemic and hypertensive control-diet, exercise, drugs
• Pan-retinal photocoagulation for severe pre-proliferative and proliferative
retinopathy
• Focal laser photocoagulation for maculopathy
• Novel therapies- intra-vitreal Anti VEGF monoclonal antibodies, intravitreal
corticosteroids
Classification of diabetic retinopathy:
• Non proliferative diabetic retinopathy
1) Mild: atleast one microaneurysm
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2) Moderate: haemorrhages, microaneurysms, hard exudates
3) severe- haemorrhages and microaneurysms in four quadrants, venous
beading, intraretinal microvascular abnormalities(IRMA)
• Proliferative diabetic retinopathy:
Neovascularizaion, macular oedema, RD, vitreous haemorrhage
Previous classification :
• Background diabetic retinopathy: microaneurysms, dot and blot haemorrhages,
hard exudates(well defined outline, yellow-white)
• Pre-proliferative: background changes plus cotton wool stops(poorly defined
borders), IRMA, venous looping and beading
• Proliferative-neovascularization
• Maculopathy(at any stage of retinopathy)-hard exudates within 500um of
macula in a circinate pattern
• Advanced diabetic eye disease-RD, vitreous haemorrhage
48-Optic Atrophy
DD
1. sudden loss of vision- ischaemic cause
• non arteritic-thromboembolism(HTN, DM,IHD, Hyperlipidaemia)
• arteritic-GCA
2. Sub acute loss-demyelination(MS and NMO)
3. Gradual loss
• compressive –optic nerve glioma/meninigioma, frontal meningioma, pituitary
tumour
• nutritional-VIT B 1,6,12 deficiency
• toxic- ethambutol, methanol, tobacco, Lead
• glaucoma
4. Inherited- Leber’s optic neuropathy, DIDMOAD(DI, DM, Optic atrophy,
deafness), friedreich’s ataxia
Presenting illness
• deterioration in vision- unilateral/bilateral, onset and progression, usually
painless
• DD: sudden vision loss with headache-exclude GCA(jaw claudication, weight
loss), pain on eye movement(optic neuritis-MS), features of pituitary tumour?
Past medical history: DM, HTN, MS, tuberculosis,
Drug history-ethambutol?
Personal-tobacco?
Family history*
Occupational –lead? Methanol?
• Visual acuity- reduced
• Light reflex- RAPD may be there
• Fundoscopy-optic disc may look total pallor, temporal pallor,
cupping(glaucoma)
• Colour vision
60
• Visual fields
• Eye movement-INO in MS, Nystagmus
• Look for causes- such as cerebellar signs if MS
• Optic atrophy is the condition that affects optic nerve at the back of the eye
which carries impulses of vision from the eye to brain
• There are several causes which can damage the optic nerve and in your case,
it seems like due to a condition called MS
• Referral to eye doc
• Starting steroid
Investigations:
• Formal perimetry, ERG, OCT
• Based on suspected cause- Blood glucose, lipid profile, ECG, echo,
• ESR, Temporal artery biopsy(GCA)
• CT/MRI brain and orbit
• VIT B12 levels
• Heavy metal screen
• Infection screen-TORCH panel
Treatment: depends on cause
• Steroids in optic neuritis
• Steroids in Arteritic AION(GCA)
• VIT b12 replacement
49-Papilloedema(Usu bilateral , can be unilateral)

Due to raised ICP.
Can present as headache and blurring of vision:
DD:
• ICSOL-tumour , haemorrhage
• IIH( OCP, Tetracycline)-female, obese,hypothyroidism
• Malignant hypertension
• Excessive CSF production-choroid plexus papilloma
• Decreased CSF resorption-meningitis, SAH, Venous sinus
thrombosis
• CO and lead poisoning
• Graves opthalmopathy(usu unilateral)
Presenting illness:
• Headache-worse in morning and lying down, nausea and vomiting
• Blurring of vision, double vision on outward gaze(6th nerve palsy), loss of visual
acuity(late cases), Painless
• Features of primary tumor(metastases)
Past medical history: Meningitis, cancer, HTN(that has been difficult to treat),
SAH
Drug history: OCP, tetracycline, isotretinion, steroids
Social- gas heaters, CO poisoning
occupational –lead poisoning
61
• Eye exam- visual acuity(usu. Normal), fields-tunnel vision if severe, eye
movement( 6th nerve palsy), fundoscopypapilloedema
• ask for BP and urine dipstick(accelerated HTN)
• fundoscopic findings- venous engorgement and tortuosity with loss of venous
pulsation, optic discs appears blurred and hyperemic, haemorrhages, exudates,
cotton wool spots
around the disc.
Addressing the concerns:
• I think your symptoms of headache and blurring of vision are related to a raised
pressure within the skull. It can lead to swelling of the optic nerve head at the
back of the eye leading to blurring of vision which is called papilloedema
• We will have to investigate urgently with scans of brain and further
investigations will depend upon the results of initial tests
• For your pain, I will give you pain killers and treatment will be based upon the
cause.
• Referral to eye doctor.
• Inform DVLA
Investigations:
• CT or MRI brain
• Lumber puncture
Treatment :
Based on underlying cause:
Idiopathic intracranial hypertension:
• life style changes-losing weight, stopping precipitant drugs
• medical-diuretics , carbonic anhydrase inhibitors, steriods
• interventional-serial lumber puncture, lumboperitoneal shunts, optic nerve
sheath fenestration
50-Retinal vein occlusion

Central(Ischaemic and non ischaemic) and peripheral RVO
Presenting illness
• Sudden unilateral painless blurred vision. Impending CRVO
presents with mild blurring of vision worse on waking and
improves towards the day
Past medical history: Look for risk factors*
Personal history- smoker?
• Visual acuity
• Papillary reflex-normal or RAPD
• Visual field
• Fundoscopy- tortuosity and dilatation of all branches of central retinal veins,
widespread dot/blot/flame shaped haemorrhages in all quadrants , optic disc and
macular edema may be present, cotton wool spots may be present.
• Look for risk factors-plethoric face(PCRV), dm
62
Investigations:
• Fluorescein angiography
• OCT
• Look for risk factors: FBC, ESR, blood glucose,lipid profile, plasma protein
electrophoresis
Treatment:
No effective medical therapy available
• Identify and Treat the risk factors
• Macular oedema can be treated with intravitreal corticosteroid therapy
• Panretinal photocoagulation if there is neovascular complication
Risk factors
• AGE(old age)
• DM, HTN, hyperlipidaemia,smoking
• glaucoma,
• myeloproliferative disorders(polycythaemia, MM, waldenstrom
macroglobulinemia)
• acquired hypercoagulable states(APS)
• Inherited hypercoagulable states(protein C deficiency, protein S deficiency,
antithrombin deficiency, Activated protein c resistance
• Inflammatory diseases- bechcet’s syndrome, sarcoidosis
51-Retinitis pigmentosa
DD of gradual loss of vision
• Diabetic /hypertensive retinopathy
• RP
• Cataract
• Glaucoma
• Laser photocoagulation(DD for RP)
Presenting illness:
• Vision impairment: one or both eyes, duration, progression, variation during
day, painless or painful, peripheral or central vision? Double vision? Colour
vision?( In RP-mostly night vision affected, tunneling of vision, colour vision
affected, flashes of light(photopsia) )
• Bardet-Biedl syndrome-obesity, polydactyly , learning disability,
subfertility/hypogonadism, DM, renal disease(interstitial nephritis)
• Kearns –sayre syndrome- syncope(heart block), diplopia(opthalmoplegia), SN
deafness
• Abetalipoproteinemia-learning disability, steatorrhea, peripheral neuropathy,
cerebellar ataxia
• Deafness( usher, refsums, KS syndrome)
Medical history- DM/HTN(retinopathy)
Surgical history-laser surgery
Family history* of blindness
63
• EYE
1. visual acuity-impaired if it involves macula
2. fields: peripheral vision loss/constriction of visual field
3. eye movement-opthalmoplegia in KS syndrome
4. fundoscopy-peripheral spiculated black pigments in both retinas, pale optic
disc/optic atrophy, attenuated retinal vessels
5. Look for cataract(50%)
• Any hearing aids? Polydactyly? DM?
Addressing concerns
• Your vision impairment is due to a condition called RP, it is an inherited
disorder
• I will refer to eye doctor for confirmation and refer for genetic counselling
• Unfortunately, there is no cure for this condition but we can do to help you
• Inform DVLA
• Support groups
Investigations: clinical plus
• Genetic testing
• Electroretinogram (objective measure of rod and cone function)
Treatment :
• Supportive-visual aids
Respiratory cases
52-Haemoptysis:
DD:
• Pulmonary embolism*
• Infection-pneumonia, TB*, lung abcess, bronchiectasis, bronichitis, aspergillosis
• Bronchial malignancy*, metastases
• Cardiac-mitral stenosis, Acute LVF
• Vasculitis-wegener’s , goodpasture’s, HHT
• Bleeding disorders, anticoagulants
Presenting illness:
• Haemoptysis- onset, frequency, amount, colour-fresh blood,
pink(Pul oedema and MS), Brown/rusty(indicates
mucopurulent sputum)
• Associated symptoms- to exclude DD.
• Features of malignancy , tuberculosis and pulmonary embolism
• Rash , arthralgia, myalgia, epistaxis, rhinosinusitis(wegener’s
• Ask about DVT(leading to PE)
Past medical history*
Drug history-anticoagulants, antiplatelets, OCP(P.E)
Personal-smoker*
Occupational-exposure to asbestos
Travel history-contact with TB patient
64
Investigations:
• CBC,ESR, CRP
• CXR
• Sputum for c/s, AFB stain, Malignant cell
• LFT, RFT, Electrolytes
• Clotting profile
• D-Dimer, CT pulmonary angiogram
• CT chest
• Bronchoscopy
• Echo if MS, LVF
• Auto-antibody screen-ANCA, anti –GBM antibodies
• Urine analysis (GN-Wegener’s, good pasture)
53-Obstructive sleep Apnea

*OSA that is associated with excessive daytime sleepiness is
called OSA syndrome.
DD:
• COPD
• Asthma
• Narcolepsy
• Central sleep apnea syndrome( due to stroke and heart
failure…no airway collapse)
Presenting illness:
• Nocturnal symptoms-snoring, witnessed apneas, gasping
and choking sensations, nocturia, insomnia, restless sleep
• Daytime symptoms-excessive day time sleepiness(EDS),
tiredness, waking up tired, morning headache, memory and
intellectual impairment, mood changes such as depression
and anxiety, decreased libido, impotence, HTN, GERD
• Alarm features-ankle swelling, blue lips
• Ask for causes- ?obesity, acromegaly, hypothyroidism, tonsillitis
• Exclude DD
Past medical history- HTN(Systemic , pulmonary arterial), DM,
Hypothyriodism, acromegaly
Drug history-sedatives?
Smoker?
Alcohol?
Social? How is it affecting daily life, occupational dysfunction?
Driver?
• Obese
• Dyspneic or sleepy at rest, on oxygen therapy , CPAP
machine nearby
65
• Face-facial plethora, central cyanosis, conjuctival congestion(secondary
polycythaemia), macroglossia, tonsillar enlargement?
• Neck-ask to measure neck circumference(>17 inch in men and >15 inch in
women)
• JVP
• Examine Respiratory system
• Look for signs of Pulmonary HTN, CCF
• Ask to measure BP, dip urine for glucose
• OSA is a condition where the walls of the throat relax and narrow during sleep,
interrupting normal breathing and hence disturbing sleep.
• DVLA
Investigations:
• Overnight polysomnography/sleep study
• FBC
• ABG
• Lipid profile, blood glucose, s.uric acid(metabolic syn)
• CXR
• ECG, ECHO
• TFT
Treatment of OSA:
• General- weight loss-(diet, exercise, orlistat), smoking and alcohol cessation
• Drug-modafinil
• CPAP
• LTOT
• mandibular advancement devices
• surgery
Risk factors of OSA
• Overweight or obese
• Male
• Large neck, narrow airway(tonsils, adenoids,small lower jaw)
• Alcohol,smoking
• Acromegaly, hypothyroidism
• Sedatives
• Family history
54-Shortness of breath/CCF
DD:
• Acute cases- acute severe asthma, pulmonary embolism,
acute heart failure/pulmonary oedema, pneumothorax
• Gradual- CCF, COPD, ILD, bronchiectasis, pleural effusion
Congestive cardiac failure: New or Old case
Focused history:
• Shortness of breath: onset, frequency, on exertion or at rest,
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functional status(MRC dyspnea scale), orthopnea, PND, exacerbating(activity)
and relieving factors(rest, GTN),
• Associated symptoms- chest pain, palpitations,
• Ankle swelling
• To exclude DD( respiratory symptoms cough, wheeze, sputum production,
haemoptysis, chest pain,fever, chest trauma(pneumothorax)
Past medical history and surgical history
• Cardiac-Previous MI,HTN, DM, Hyperlipedemia, any CABG ? any PCI?
• Lungs-asthma, copd, ild, pulmonary embolism
Drug history: any OCP? Compliance? allergy?
Personal history
Family history
Social , occupational history
• Dyspnea at rest
• Pulse, ask to measure BP
• Cyanosis
• JVP
• Precordium exam
• Lungs-fine crepts
• Pedal oedema
• I think the cause of your shortness of breath and swollen ankles is heart failure.
It means that your heart muscle is not effectively pumping as it should, so fluid
collects in lungs and peripheries
• I would like to obtain Heart tracing(ECG) and confirm with ultrasound of
heart(echo), also some blood tests to exclude anaemia
• We can start treatment right away and one of which is water tablets to remove
fluid collection and other tablets as well
Investigations:
• ECG
• ECHO
• CBC(anaemia), s.electrolytes, TFT, BNP
• Cxr
Treatment :
• General-no added salt, restricted fluid intake, influenza vaccination, cardiac
rehab
• Medical- diuretics, ACEi or ARB, B-blockers, spironolactone, digoxin,
• Interventional/surgical-ICD, CRT, CABG, Heart transplant
• Manage risk factors-smoking, hyperlipedemia, DM
55-Hypersensitivity pneumonitis /Extrinsic allergic alveolitis

*inflammatory syndrome of lung caused by repetitive inhalation of
antigenic agents in a susceptible host
Forms:
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• Acute-type III hypersensitivity
• Subacute and chronic-Type IV
DD:
• Pneumonia
• Asthma
• Pulmonary fibrosis
Presenting illness:
Acute:
• Flulike symptoms-fever, chills, cough, malaise,chest tightness, headache, sob(
develop within hours of exposure and symptoms usually resolve)
subacute
• Insidious onset of productive cough, Sob, fatigue over months
chronic
• Progressive symptoms as above, weight loss
Ask for exposure:
• Farmer’s lung-moldy hay
• Bird breeder’s lung-pigeons, fowl
• Malt worker’s lung-
• Chemical worker’s lung-
• Humidifier/air conditioner lung and etc…….
Past medical history
Occupational history**
Pets**
Hobbies*
• HP happens when your lung develops immune response (inflammation) to
something you breathe in resulting in inflammation of lung tissue. One example is
bird fancier’s lung caused by breathing in particles of bird droppings or from
feather
• Symptoms occur usually after exposure and resolve without any sequele but
repeated exposure may lead to lung scarring
• Consult with resp medicine specialist, occupational medicine
Investigations:
• CBC, ESR, CRP
• Precipitating antibodies against antigens
• CXR
• HRCT
• Lung function tests
• BAL for lymphocytes and antibodies
• Lung biopsy
Treatment:
• Avoidance of antigen if possible
• Exposure minimization with protective equipment(respirators) or environmental
control
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• corticosteroids
Skin cases
56-Hep C with skin rash
Dermatologic manifestations:
• Lichen planus-pruritic, papular lesions involving skin, scalp,
nails, oral mucosa, genitalia
• Acral necrolytic erythema-hyperkeratotic plaques with
erythema in acral parts(esp dorsum of the feet and ankles)
• Cryoglobulinemia-leukocytoclastic vasculitis-palpable
purpura in the legs, livido reticularis, urticaria. Ask about
pain,pruritus, raynaud’s phenomenon
• Sicca syndrome-dry eye, dry mouth
• Porphyria cutanea tarda-blisters, vesicles esp on sun
exposed surfaces
• Non-Hodgkin lymphoma, MALT syndrome
• Erythema nodusum
• Erythema multiforme
Presenting illness:
• Rash- distribution, pruritus, pain, photosensitivity
• Features of CLD due to Hep C- ascites, hep encephalopathy,
SBP, variceal bleeding
• Other extrahepatic manifestations-myalgias, arthralgias,
sicca syndrome, sensory neuropathy, pruritus
Past medical history: blood transfusion,organ transplants,
surgery
Drug history-I/V drug abuse
Sexual history*
Occupational history*
Family history
• Rash
• Stigmata of CLD
• Tattoos, injection marks
• Your rash may be related to the bug infection called Hep C .
• I will do some blood tests to confirm it and refer to skin
doctor, bowel doctor and liver doctor for further
management of the condition.
Investigations:
• Anti-HCV antibody
• HCV RNA
• Skin biopsy
• Investigations to see liver involment-LFT, USG HBS, afetoprotein
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Treatment :
• DAA-interferon, ribavirin
• Biological agents-rituximab
57-Ichthyosis
*disorder of keratinization-abnormal epidermal differentiation
Types:
• Inherited –ichthyosis vulgaris, lamellar ichthyosis, x-linked
ichthyosis, epidermolytic hyperkeratosis
• Acquired –autoimmune disorders, malignancy, HIV infection
Presenting illness:
• Onset in early childhood
• Dry skin with scales most prominent over trunk, abdomen,
buttocks and legs
• May be associated with atopic dermatitis
• Eye-corneal ulcers, opacities
Past medical history-atopic dermatitis, autoimmune disorders,
malignancy-mostly haematological, HIV
Drug history*
Family history*
Sexual history
• Skin-dry, scaly skin
• Eyes- eye lids(ectropion,trichiasis, madarosis), corneal ulcer, erosions
• It is a condition that causes widespread and persistent dry, fish scale skin
• Some types are inherited and some acquired
• Refer to skin doctor for skin biopsy and management
• Treatment involves skin emollients, topical creams and oral drugs as well
• There is no cure, but manageable with the medication
• Psychological therapy?
Investigations:
• Skin biopsy
• Genetic testing
• CBC with PBF
• TFT
• Autoimmune screen-ANA, anti-dsDNA(SLE), anti-centromere antibodies(SS)
• Tests for sarcoidosis
Treatment:
• Oral retinoids-isotretinoin, etretinate
• Ocular therapy-artificial tears
• Topical therapy-topical cyclosporine A, petroleum ointments,
10% urea ointment, topical tazarotene, salicylic acid
• Treatment of secondary bacterial infections
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58-Necrobiosis Lipoidica Diabeticorum
DD:
• Diabetic dermopathy
• Cutaneous sarcoidosis
• Granuloma annulare
Presenting illness:
• Skin lesion- located mostly in shins, usually painless, can be
painful, often bilateral
• History DM
• Other skin manifestations-diabetic dermopathy
Past medical history: DM(duration, latest HBA1c, complications)
Drug history
• Skin lesion- well-circumscribed oval plaques on the anterior
surface of lower legs with shiny surface, yellow, waxy and
atrophic center and telangiectasias with red-brown margins.
Check peripheral pulses
• Features of DM-finger prick marks, urine dipstick,
fundoscopy, examine for peripheral neuropathy
• Your skin lesion may be due to a condition called NLD
• It is a rare condition of skin associated with DM or Prediabetes or sometimes in
normal people
• Occurs due to abnormal deposition of fat and thickening of blood vessels wall
• I will check blood glucose and refer to skin doctor for biopsy and confirmation
Investigations:
• Fasting blood glucose, post prandial, HBA1c
• Skin biopsy
Treatment:
• Skin protection from trauma
• Topical or intralesional steroids
• Good diabetic control
• Surgery-laser, excision and skin grafting in severe cases
59-Neurofibromatosis
Presenting illness
• Skin-neurofibromas, skin colour changes
• Neurological- hearing problems(acoustic neuroma), visual
problems(optic gliomas), epilepsy, learning difficulties(CNS
tumours), radicular pain(nerve compression), Spinal cord
compression?
• MSK-back pain, fractures
• CVS- hypertension( pheochromocytoma, RAS, coarctation of
aorta), restrictive cardiomyopathy
• Lungs- pulmonary fibrosis, pneumothorax
Past medical history- HTN, brain tumours, pulmonary fibrosis,
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epilepsy
Drug history
Family history*
• Skin-neurofibromas, café-au-lait spots, axillary freckling,
scars from previous surgery, plexiform neuromas
• Arm- ask for blood pressure
• Eye-look for Lish nodules on iris (small brown dots) with
torch light. If not visible, to see in slit lamp examination,
visual acuity, fundoscopy(optic glioma)
• Ears- hearing aids? If so, look for Features of CPA angle
tumour signs
• MSK- Kyphosis, bowing of long bones, charcot joints
• It seems that you are suffering from neurofibromatosis type 1
• It is a genetic disorder, that causes tumours to form on nerve tissue which is
present anywhere in nervous system
• The tumours are usually benign
Investigations:
Clinical diagnosis
• MRI brain to exclude tumours
• Biopsy of tumour if malignancy is suspected
• Doppler USG renal tract to exclude RAS
• Investigate for pheochromocytoma if suspected
• Echo to exclude MVP
DIAGNOSTIC CRITERIA of TYPE 1
2 or more:
• 6 or more café-au-lait spots(>15mm in postpubertal and
>5mm in prepubertal children)
• 2 or more neurofibromas or 1 plexiform neuroma
• Freckling in axillary and inguinal regions
• 2 or more lish nodules
• Optic glioma
• Sphenoid dysplasia and thinning of long bones
• 1st degree relative with NF
NF type 2(if either of the following)
• Bilateral 8th cranial nerve masses(on CT or MRI)
• 1ST degree relative with NF 2 and either a unilateral 8th nerve mass or 2
of:neurofibroma, meningioma, glioma, schwannoma
Treatment:
• Patient edu and genetic counselling
• Treatment of HTN
• Hearing aids
• Surgery to remove tumours
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60-Tuberous sclerosis
Presenting illness
• Skin- adenoma sebaceum/angiofibromata, colour changes
Due to hamartomas in different organs
• Brain- seizure, mental retardation (Epiloia- epilepsy, low
intelligenence and adenoma sebaceum)
• Heart- cardiac rhabdomyoma(heart block, arrhythmias)
• Lungs- peumothorax, LAM
• Kidneys- renal hamartoma or angiomyolipoma, renal failure, HTN, PKD
• GIT-harmartomous rectal polyps
Past medical history: epilepsy, CKD, neprectomy
Drug history-anti-epileptics
Social history-low intelligence
• Face- adenoma sebaceum/angiofibromata(salmon coloured papulo-nodular
lesions in butterfly distribution particularly in nasolabial folds, it can be macules
as well)
• Hand fingers and toes- periungual and subungual fibromas
• Ash leaf macules(hypopigmented macules)
• Shagreen patches( thickened plaques, green to brown in
colour over buttocks)
• Look for gums-gingival hypertrophy (phenytoin use)
• Ask to look for other systems …. Fundoscopy for retinal
hamartoma, oral(gingival hamartoma, dental pitting, high
arched palate), abdomen-Renal cysts, complete neurological
exam to look for deficits
• I think your symptoms are due to a condition called tuberous
sclerosis
• It is a rare genetic disease that causes tumours to grow in
different parts of the body
• Unfortunately , there is no cure for this condition, but there
are treatments available for the associated conditions
• Referral to geneticist
Investigations: clinical diagnostic criteria is used
• Genetic testing (in uncertain cases)
• Imaging- CT or MRI brain, renal ultrasounds,
echocardiogram, EEG
Treatment:
• Rapamycin(immunosuppressant)
• Treatment of organ based involvement:
Antileptic medications, surgery
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61-Pemphigus
Can present as blistering rash and mouth lesions
DD:
• Bullous pemphigoid
• pemphigus
• Dermatitis herpetiformis
• Drug eruption
• Herpes gestationis
• Liner IgA disease
• impetigo
Presenting illness:
• Mucous membrane lesions develop initially by months (50%)
-mouth lesions/vaginal
• Cutaneous blisters- tensed (pemphigoid) or flaccid? Pain?
Distribution? Itchy?
• Alarm symptoms- features of secondary infection/septic
shock
Past medical history: Autoimmune diseases( hypothyroidism,
myasthenia gravis)
Drug history*(it can precipitate Pemphigus)-penicillins, ACEI,
NSAIDs, phenobaribitone
Drug allergies
Occupational ,social, family history
• See the location of rash, see inside mouth
• Skin blisters are flaccid blister filled with clear fluid located
on normal skin or erythematous base and easily broken
down, leaving red denuded skin and crusted erosions
• Nikolsky sign(not to be performed in exam)
• Ask to look at TPR chart
• I think your skin and mouth blisters are due to a condition
called pemphigus, which occurs due to an overactive
immune system
• To make the diagnosis, I will refer to skin doctor who will take
a skin biopsy from the blister and perform a special test
called immunofluorescence
• Treatment will include steroids and other drugs which will
dampen down inflammation
Investigations:
• Confirm with skin biopsy (direct immunofluorescence of the
specimen shows IgG deposition in epidermis)
• CBC, S.electrolytes
Treatment :
• General-nutrition, hydration, emollients for skin, barrier
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nursing, treat secondary infection
• Specific-immunosuppressants, IV IG, Bilogic therapies
62-Pseudoxanthoma elasticum
Mostly AD, sometimes Autosomal recessive inheritance
Presenting illness: a systemic disease
• Skin changes on neck and flexural areas-lax, wrinkled and
hanging in folds
• Eyes- decreased vision, angioid streaks, blue sclera
• Heart- HTN, AR, MR, MVP, CAD, Cardiomyopathy
• GIT- haemorrhage
• Peripheral pulses-diminished or absent due to arterial wall
thickening and narrowing(features of PVD)
• Joints-hyperextensible
• CNS- cerebral infarction /haemorrhages
• Kideys- renovascular HTN
Past medical history- HTN, Heart disease
Physical examination-
• Skin survey- folds of loose skin over neck, axillae , groin,
periumbilical region, antecubital fossa. There are areas of
yellow coloured papules coalescing to form larger
pseudoxanthomatous plaques giving ‘pucked in chicken’
appearance
• Eyes- blue sclera, visual acuity, fundoscopy
• Heart-AR/MR/MVP
• Pulse and BP
• I think you have a condition called pseudoxanthoma
elasticum
• It is genetic disorder affecting connective tissue , specifically
called elastic fibers. There is degeneration of elastic fibers
leading to fragmentation with calcification in different parts
of the body
• Referral to eye doctor, check up if heart is involved or not,
measure BP
Investigations: diagnosed based on criteria
• Genetic testing
• Skin biopsy
• CBC-anaemia
• Fecal occult blood test-to see GI bleed
• Lipid profile(associated with atherosclerosis)
• Imaging-Echocardiography
Treatment: no specific therapy
• General –smoking cessation, moderate exercise
• Skin lesions- surgical excision
• Treat CVS conditions
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64-Psoriasis:
Can present as itchy scaly plaques
DD:
• Psoriasis
• Eczema
• Discoid lupus
Presenting illness
• Rash-nature, distribution, scaly? Precipitating factors
(alcohol, streptococcal throat infection, stress, drugs,
sunlight), itchy?
• Joint pain?
Past medical history: arthritis?
Drug history: B-blockers, lithium, ACEi, Antimalarials,
Family history*
Personal-alcohol*smoker*?
• Rash- well circumscribed erythematous plaque with silvery
white scales in extensor surfaces, scalp
• Nails-pitting, ridging, onycholysis, subungual hyperkeratosis
• Joints-asymmetrical arthritis?
Addressing concerns
• Your itchy rash is due to a condition called psoriasis
• I will give some emollients and creams containing steroids
and vit D. if that doesn’t improve, I will refer to skin doctor
for further treatment.
• Support groups
Investigations:
It is a clinical diagnosis, if in doubt, skin biopsy
Treatment:
• General – avoid precipitating factors, emollients,
antihistamines
• Topical therapy- steroids, Vit
analogues(calcipotriol),retinoids(tazarotene), coal tar,
dithranol
• Systemic therapy- retinoids(acitretin), MTX and other
immunosuppresants, biologics
• PUVA therapy
Variants of psoriasis:
• Chronic plaque
• Pustular
• Guttate
• Erythrodermic
• Palmoplanter
65-Pyoderma gangrenosum
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DD of chronic non healing ulcer:
• Pyoderma gangrenosum
• Malignant ulcer
• Infective-tubercular
• Venous ulcer/arterial ulcer
• Neuropathic ulcer
• Vasculitis
• Trauma
Presenting illness
• Ulcer- pain? Site? Progression? How it started? Trauma?
Pus/bloody discharge?
• Look for features of IBD, haematological
malignancies(lymphoma), autoimmune liver disease, RA
Past medical and surgical history: IBD, lymphoma, behcets
disease, RA
Drug history-
Social, occupational and family history
• Ulcer- edge (purplish, necrotic, overhanging), floor-may be
purulent, surrounding erythema, tender
• Abdomen-IBD
• Lymph nodes(lymphoma)
• I think the painful ulcer in your leg is due to a condition
called P.G
• It is sometimes related to other conditions and in your case,
the blood in your stool is likely to be caused by IBD
• I will do some blood tests and swabbing the ulcer for culture
to see any bugs in it to exclude infection. Then, I will refer to
skin doctor for confirmation by skin biopsy, and for your
bowel problem, I will refer to bowel doctor
• For your pain, I will give you some painkillers, and ulcer
needs to be cleaned regularly
Investigations:
• CBC
• Wound swab for gram stain and C/S
• Skin biopsy
• Bowel-endoscopy and biopsy
Treatment:
• Topical steroids(for mild cases)
• Immunosuppressive therapy-steroids, ciclosporin, MMF,
azathioprine, anti-TNF alpha therapies
• Paracetamol/NSAIDs for pain
• Dressing
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66-Vitiligo
DD of hypopigmentation:
• Vitiligo
• Pityriasis versicolor
• Leprosy
• Post inflammatory-chemical exposure
• Morphea
• Discoid lupus
• Tuberous sclerosis(ash leaf macules)
Presenting illness:
• White patches- duration, location, number, hypopigmented
hairs, itchy? Progression
• Other autoimmune diseases- alopecia, features of thyroid
disorder, DM , addision’s disease(weakness, postural drop,
nausea, vomiting, pigmentation), pernicious anaemia
Past medical history- DM, thyroid disorders, addisons disease,
percicious anaemia,alopecia areata, PBC, celiac disease
Family history*
Social history*- embarrassment or distress?
• Description-symmetrical hypopigmented macules or patches
often with hyperpigmented borders(well-demarcated) and
hypopigmented hair
• Look for autoimmune diseases- scalp for alopecia, anaemia,
buccal pigmentation and postural drop of BP for addisions,
neck for goiter/thyroidectomy scars of grave’s/hashimoto
thyroiditis
• Ask to measure postural drop of BP, urine dipstick for
glycosuria
• I think you have a condition called vitiligo. It is related to
immune system
• I will refer to skin doctor for treatment options
• It is associated with some other conditions, I will do some
blood tests to look for it
• Unfortunately, it is very difficult to treat; one option is to use
special make up to conceal the patches.
• Support groups
Investigations:
Clinical diagnosis, however in doubt-skin biopsy will confirm.
Other tests to exclude autoimmune diseases are
• FBC(anaemia)
• LFT(PBC)
• Blood glucose
• TFT
78
• 9 am cortisol (addison’s disease)
Treatment :
• General- Pt.edu and counseling, sunscreen, cosmetic
camouflage
• Medical – topical potent steroid(mometasone), topical tacrolimus
• Phototherapy
• Surgery-mini-grafting
67-Porphyria cutanea tarda

80% are acquired(sporadic) and 20% are familial(autosomal dominant)
*heme synthetic enzyme uroporphyrinogen decarboxylase(UROD)
is deficient
Presenting illness
• Skin- blistering of mostly sun exposed areas, photosensitive, skin fragility,
followed by scarring, milia(tiny white spots), occasionally skin becomes thickened
and hard
• Discoloured urine may be there (tea coloured?)
• Changes in hair growth(hypertrichosis) and hyperpigmentation
• Precipitating factors-alcohol, OCP,Hepatitis
• Features of HCC?
• Commonly associated with haemochromatosis
Family history*
Alcohol history*
History of hepatitis
Concern:
• PCT is a condition due to deficiency of an enzyme in liver and sometimes in
RBCS. This enzyme deficiency leads to build up of chemicals called porphyrins ,
which in the skin interacts with light
• It is normally inherited or precipitated by alcohol, viral hepatitis,
haemochromatosis(build up of iron in liver)
• The skin features are usually a nuisance rather than serious. Most people with
PCT will have too much of iron in the body, with removal of iron, the skin often
improves
Investigations:
• Urinary porphyrins-pink fluorescence under wood lamp radiation
• UROD enzyme activity assay in RBC
• LFT, alpha fetoprotein, iron profile, viral hepatitis screen
• Skin biopsy, liver biopsy
• Imaging-USG HBS
Treatment:
• General-avoidance of sunlight, alcohol, tobacco cessation,
treatment of hepatitis(hep C)
• Venesection reduces iron stores and hence improves heme
synthesis. Use iron cheletors if venesectio is not applicable
• Hydroxycloroquine in low dose
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Metabolic diseases cases
68-Xanthomas
*lipid laden macrophages
Presenting illness:
• Cutaneous xanthomas(xanthelesma palpebrarum, tuberous
xanthoma, tendinous xanthoma, eruptive xanthoma, planar
xanthoma)
• History of MI, atherosclerosis, AR, pancreatitis
Past medical history: IHD, pancreatitis, DM
Family history* of xanthomas, IHD
Smoker? Alcohol?
• Xanthelesma(eye)
• Tuberous xanthomas-firm, painless red –yellow nodules,
usually in extensor surfaces such as knee, elbow and
buttocks (pressure areas)
• Tendinous xanthomas-nodules related to tendons and
ligaments(Achilles tendon mostly)
• Eruptive xanthomas-crops of small red to yellow papules,
itchy
• Look for features of atherosclerosis(unequal and weak pulse,
Features CCF due to MI)
• Xanthomas is a condition in which fatty growths develop
underneath the skin
• Associated with high fat levels in the body which can be
dangerous for the heart(heart attack) due to narrowing of
vessels
• We will do blood tests to measure the fat level and start
treatment right away.
• The growths usually takes months or years and sometimes
may not disappear , so surgical excision may be advised
Investigations:
• Fasting lipid profile
• Biopsy
• Asses cardiovascular status
• Exclude secondary causes of hyperlipaedemia such as
hypothyroidism, nephrotic syndrome
Treatment: if associated with hyperlipaedemia
• Diet-low cholesterol diet
• Statins, fibrates, nicotinic acid, bile-acid binding resins
• Surgical-excision, laser
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Frederickson classification of lipid disorders
1. Type 1(chylomicrons)-lipoprotein lipase deficieny
2. Type IIa(LDL)-Familial hypercholesterolemia, hypothyroidism,
nephrotic syndrome
3. Type IIb(LDL, VLDL)-Familial combined hyperlipidemia
4. Type III(IDL)-dysbetalipoproteinemia
5. Type IV(VLDL)-Familial hypertriglyceridemia,DM
6. Type V(chylomicrons, VLDL)-DM
69-Acute intermittent porphyria

*defects in heme metabolism and result in excessive secretion of
porphyrins and porphyrin precursors
*autosomal dominant, due to defects in enzyme porphobilinogendeaminase
leading to accumulation of porphobilinogen
Presenting illness: episodes of neurovisceral symptoms
• Autonomic neuropathies- abdominal pain, constipation ,
vomiting, hypertension, tachycardia
• Abdominal pain-often epigastric pain and colicky in nature
• Peripheral neuropathies-mainly motor neuropathies
resembling GBS
• CNS-psychiatric symptoms(depression), seizures, delirium,
cortical blindness, coma
• Skin-usually no rash
• Fever in some cases
Family history*
Investigations:
• Spot urine test for porphobilinogen during acute attack
• S.electrolytes-Hyponatraemia(SIADH)
• CBC-mild leukocytosis
• Abdominal imaging to exclude DD
• Genetic testing for family can be done
Treatment: goal of treatment in acute attacks is to decrease heme
synthesis
• Diet-high carbohydrate diet during the attack
• High dose glucose 5% in NACL
• Hematin infusions usually in recurrent attacks
• Liver transplantation(rarely required)
• Symptomatic- pain control with narcotics, seizures with
gabapentine, treatment of HTN
Acute porphyrias-AIP
Cutaneous-PCT, erythopoietic porphyria
Acute and cutaneous-variegate porphyria, hereditary
coproporphyria
Dd:
Addisions
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Heriditary angioedema
70-Angioedema
Types:
• Hereditary –
1. Type 1-low C1 Inhibitor
2. type 2-C1 inhibitor doesn’t function properly
3. with Normal C1 Inhibitor(formerly Type 3)
• Acquired –Type 1 and type 2
• Idiopathic
• Allergic
• ACE-inhibitor induced
• Non-histaminergic
Notes: the presence of urticaria in presence of
angioedema usually suggests a diagnosis other than
HAE and acquired angioedema
Presenting illness:
• Swelling of lips, eyelids, tongue, hands, feet, scrotum/vulva
• Larynx-throat tightness, SOB, Stridor
• Abdomen-abdominal pain, nausea, vomiting
• Ask about urticaria
• Determine types of angioedema
• Hereditary-family history may be there
• Allergic- in response to food, insect stings,
drug(NSAIDs), Latex
• Idiopathic
• ACEI- History of ACEI.
Past medical history: past attack of angioedema, urticaria
Drug history-ACEI, NSAIDs
Family history..HAE is autosomal dominant
• Angioedema is a swelling underneath the skin, usually a
reaction to a trigger such as medication, sometimes
cause can’t be found
• It can be life threatening if it involves the larynx
• Dial for ambulance if sudden SOB, swelling of lips and
tongue. Use adrenaline auto-injector .
Investigations:
• Hereditary-C1 Inhibitor , C4 is low, C1q, C1 and C3 are
normal
• CBC
• Allergy testing- RASTs(radioallergosorbent tests)-to identify triggers
• Idiopathic angioedema-normal complements
Treatment:
ABCD approach:
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• Airway protection- intubation , cricothyotomy, tracheostomy
may be required
• Antihistamines
• Steroids
• Adrenaline(if larynx is involved )
• Based on underlying type….
1. HAE- C1 Inhibitor concentrate, plasma kalikrein inhibitor,
bradykinin receptor antagonist, anabolic steroids-danazol
2. ACEI- stop the drug
71-Cystic fibrosis
*disease of exocrine gland function
Presenting illness
Long history of symptoms
• Lung-bronchiectasis, COPD, recurrent pneumonia, wheezing, haemoptysis,
pneumothorax
• GIT- pancreatitis, steatorrhoea, malabsorption(osteoporosis)
• DM
• Poor growth and weight gain
• Infertility/subfertility
Past medical history-bowel obstruction, recurrent chest infection
Family history*
Social history- infertility may be an issue
concern
• CF is an inherited disorder that causes damage to the
lungs and digestive systems in body
• CF affects cells that produce mucus, sweat and digestive
juices
• Will do some blood tests and obtain x ray of chest and
also special scans of chest
• There is no cure but it can be managed with MDT
approach…treating lung problems, taking care of nutrition
• Since it is inherited condition, will refer for genetic
counseling
• Males may be infertile, females might be able to conceive
Investigations
• Screened at birth: low immunoreactive trypsin (heel prick)
• Sweat test: Na+ > 60 mmol/L (false‐positive in
hypothyroidism and Addison’s) or chloride
test>60mmol/l
• Genetic screening
• CBC
• Sputum for gram stain/CS
• CXR, CT chest, lung function tests
• RBS
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• ViT D, calcium, clotting profile
General: education, counseling, nutrition, immunizations
LUNG:
• Chest Physiotherapy: postural drainage and active
cycle breathing techniques
• Prompt antibiotics for infections
• Mucolytics (DNAse)
• Inhaled bronchodilators
• Anti-inflammatory agents
• Double lung transplant (50% survival at 5 years)
Malabsorption:
• Pancreatic enzyme supplements
• Fat soluble vitamins
Hypercalcemia
• Non-PTH mediated hypercalcemia-malignancy, tamoxifen
linked hypercalcemia, sarcoidosis, iatgrogenic(Vit D ,
thiazides)
• PTH mediated hypercalcemia-Hyperparathyroidism
Presenting illness:
• Nausea, vomiting, constipation
• Polyuria, polydipsia, nocturia
• Alteration of mental status, confusion, coma
• Headache
• Depression
• Abdominal pain
• Renal colic
Past medical history-malignancy
Drug history-thiazides, tamoxifen
Investigations:
• S.calcium
• S.albumin to calculate total corrected calcium level
• PTH level
• Investigations for malignancy
Treatment
• ABC
• Hydration
• Loop diuretics
• Bisphosphonates
• Patients with malignancy may require chemo, radio and
surgery
*normal calcium value-2.1-2.6mmol/L
Hypogammaglobulinemia
*deficiencies of humoral immunity (b-lymphocytes), infection with
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encapsulated bacteria
Common types of primary immunodeficiency:
• Hypogammaglobulinemia(Common variable
immunodeficiency)
• IgA deficiency
• X-linked agamamglobulinemia/Bruton’s
DD:
• Cystic fibrosis
• AIDS, lymphoproliferative disorders(secondary
immunodeficiency)
Presenting illness:
• History of recurrent infectionso
RTI including chronic OM,sinusitis, bronchitis,
bronchiectasis,pneumonia.
o GI-bacterial or parasitic gastroenteritis, malabsoption
o skin infections
o meningitis
o joints-arthritis
o lymphadenopathy
o associated with autoimmune disorders
o increased risk of malignancies
• age of onset*
Past medical history-recurrent RTI, GI infections, autoimmune
diseases, malignancies? past history of Blood transfusion
reaction
Sexual history*-risk factor for HIV
Family history*
• hypogammaglobulinemia –is a condition due to deficiency of
antibody..that can fight infections.
• Referral to immunologist
• MDT approach
• Avoid life vaccines
• CVID-can be autosomal recessive
Investigations:
BASIC and to see manifestations of disease
• CBC with differential, ESR, CRP
• Sputum for gram stain/c/s, AFB
• Stool RE
• S. albumin, s.calcium, vit D, clotting profile (malabsorption)
• CXR
• Anti-HIV
• HRCT, Lung function tests
Specific:
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• Levels of serum immunoglobulin-total IgG, IgA, IgM
Common variable immunodeficiency-IgG levels less than 2
SD below the mean, also low levels of IgA and Ig M
Selective IgA deficiency
Hyper-IgM syndrome-IgM markedly increased, others are
decreased
• Flow cytometric analysis-Peripheral blood lymphocyte
phenotyping- absent or less B-lymohocytes
• Checking antibodies to vaccines the child
received..antibodies will be absent(antibody response to
immunization)
• Absence of antibodies to blood group A and B antigens
• Complement levels
• Serum electrophoresis
Treatment:
• Replacement of Ig G(i/v or S/C) for primary
immunodeficiency
• Treatment of secondary hypogammaglobulinemia –according
to underlying cause
• Stem cell transplantation for severe combined
immunodeficiency
• Treatment of infections-lungs and GI
• Avoid life vaccines
Multiple Myeloma
*proliferative of malignant plasma cells and a subsequent
overabundance of monoclonal protein(M protein)
DD
• Metastatic bone disease
• MUGS
Presenting illness
• MSK
1. bone pain(most common) mostly in lumbar spine
2. pathologic fractures-mostly vertebral
• spinal cord compression-back pain, weakness and numbness
in extremities
• bleeding-thrombocytopenia
• infections-due to leucopenia
• Aaemia-weakness
• hypercalcemia-confusion, somnolence, bone pain,
constipation, polyuria, thirst
• hyperviscosity-malaise, fever, paresthesia, sluggish
mentation,headache, sensory loss, blurring of vision,
epistaxis, stroke, MI
• N/S-Carpal tunnel syndrome, peripheral neuropathies
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• Renal failure
• Amyloidosis
• Soft tissue masses-plasmacytomas
• Cryoglobulinemia, raynauds phenomenon
Past medical –pathological fracture, renal failure, Stroke, CTS
Plan of action
• Multiple myeloma is a type of bone marrow cancer( bone
marrow is the spongy tissue found at the center of bones, it
produces the body’s cells. MM affects the plasma cells(a type
of blood cell) inside the bone marrow
• The myeloma cells divide and expand in the bone marrow
damaging the bone and production of other healthy blood
cells
• Will do some blood tests and x rays of your spine and then
refer to haematologist for further tests and scan
• There is no cure for MM but treatment can help control over
many years
• Managed by MDT-oncologists, haematologists, radiologists,
experts in stem cell transplants, orthopaedic surgeons
Investigations
• CBC(pancytopenia)
• Peripheral blood film-Rouleau formation
• ESR, CRP
•Total protein, albumin, globulin
• S.calcium and electrolytes
• RFT
• ALP
• 24 hour urine for quantification of Bence Jones protein,
protein, creatinine clearance
• Serum protein electrophoresis
• Urine protein electrophoresis-to identify bence jones protein
• B2 microglobulin is a prognosticator in MM
• Serum viscosity
• Skeletal survey-plain x rays(osteolytic lesions), MRI, PET scan
• Bone marrow studies-more than 10% plasma cells
Treatment
1. Transplant candidates
• Induction therapy followed by autologous stem cell
transplant
Induction therapy, bortezomib based (bortezomib,
cyclophosphamide, dexamethasone or bortezomib,
doxurobicin, dexamethasone, or bortezomib, lenalidomide,
dexa)
2. Non transplant candidates
Bortezomib, melphalan, prednisolone,,,, lenalidomide,
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doxurobicin, vincristine
Complications:
• Bone fracture
• Spinal cord compression
• Renal failure
• Infections , bleeding , anaemia
• Hyperviscosity-stroke, MI
• Amyloidosis
Cause of Renal failure
• Direct tubular injury-light chain nephropathy
• Amyloidosis
• Hypercalcemic nephropathy
MGUS-monoclonal gammopathy of undetermined significance
• Serum monoclonal M protein <3g/dl
• Bone marrow plasma cell <10%
• No evidence of end organ damage
Smoldering MM- values above above levels plus no evidence of
end organ damage
Rheumatology cases
Ankylosing spondylitis
Can present as:
• Low back pain and stiffness
• Exertional dyspnea(pulmonary fibrosis)
DD of low back pain and stiffness:
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• Ankylosing spondylitis
• Other seronegative arthritis(psoriatic, enteropathic, reactive)
• Rheumatoid arthritis
• Osteoarthritis
Focused history of presenting illness:
• Low back pain-onset, duration, severity, variation,
exacerbating and relieving factors, radiation, morning
stiffness, effect on life? (pain is worse at night and morning
with stiffness, exercise helps it)
• Any other joints involved?
• Heel pain?
• Red eyes
• Sob(pulmonary fibrosis)
• AR(palpitations, sob, leg swelling)
• IBD-Bowel habits, mouth ulcers?
• Skin rash(psoriasis)
• Any trauma? Fever?
• Alarm symptoms- spinal cord compression?
Past medical and surgical history: IBD? Psoriasis?
Medication history: NSAIDs? Any side effects?
Family history? *
Personal history
Occupational history?
Social history? Living alone?
• Ask to walk- question mark, Stooped posture? Loss of
lumber lordosis and exaggerated thoracic kyphosis and neck
hyperextension, protuberant abdomen
• Check cervical movements
• Check low back movements(fix the patients pelvis before the
movements)
• auscultate lung apex for pulmonary fibrosis
• heart for AR, pacemakers(conduction blocks)?
• Eyes for anterior uveitis
• Ask to perform modified schober’s test
• occiput wall distance test
• ask to check chest expansibility
• Urine dip for proteinuria( amyloidosis , NSAID induced
nephropathy)
Addressing concerns and questions:
• You might have a condition called ankylosing spondylitis
where your own immune system is mistakenly attacking the
spine and other joints leading to pain and stiffness
• For your pain, we will start with pain killers/anti-inflammatory
agents and will ask physiotherapists to see you
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• We will do some blood tests(inflammatory markers) and
obtain an X ray of your back and also MRI scan of your back
• I will refer to AS clinics for detailed measurements and also
Rheumatologist who can start you with medication to
dampen down the immune system if not responding to initial
therapy
• ?help of occupational therapists if needed
• Inform the employer about diagnosis for work adjustments
• 15-20% chance to get it if 1st degree relative has it, 2%
chance if HLA B27 positive
• Info about support groups
Investigations:
• Inflammatory markers-ESR, CRP, CBC(anaemia)
• HLA B27
• RFT and URE(for Amyloidosis)
• X ray of LS spine and sacroiliac joint
• MRI of LS spine and sacroiliac joint
• CXR, Pulmonary function tests, HRCT for Pul fibrosis
• ECHO for AR
Treatment : MDT approach
• Exercise, physiotherapy, occupational therapy
• NSAIDs(1st line), intraarticular steroids
• DMARDs (sulphasalazine) may be effective in peripheral
arthritis
• Biological agents -Anti-TNF alpha therapy(etanercept,
adalimumab)
• Surgical-hip replacement
Extra-articular features:
• Anterior uveitis
• Apical pul fibrosis
• AR, Aortic conduction blocks
• Atlanto-axial subluxation
• Achilles tendinitis
• Amyloidosis, IgA nephropathy
Carpal tunnel syndrome

Presenting illness:
• Numbess, tingling and pain in lateral 3 and half fingers.
Night time symptoms that awake the patients, patient
relieves the symptoms by shaking the hand or wrist.
Unilateral or both hands?
• Weakness/clumsiness-Ask about hand functions-loss of grip,
dropping things
• Autonomic symptoms-tight/swollen feeling of fingers/hands,
temperature changes(cold/hot), changes in sweating
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• Look for underlying causes-ask for features of
hypothyroidism, Acromegaly, RA, DM, obesity
Past medical history-Acromegaly, hypothyroidism, RA , dialysis,
amyloidosis, DM, colles fracture, wrist trauma
Pregnancy*
Occupation-using vibrating tools?
• CTS is a pressure on a nerve in your wrist causing the
symptoms that you have
• In your case it is related to the underlying condition that you
are suffering from called acromegaly
• I am sure about the diagnosis and I will recommend you with
wrist splints initially for 4 weeks. If that doesn’t work, might
have to try steroid injections in the wrist and if not working, I
will refer to surgeons for a minor surgery.
• Also , we have to make sure your acromegaly is well
controlled
Physical exam:
• Confirm carpal tunnel syndrome
• Examine to look for causes
Investigations:
• Ultrasound scan
• NCD
• EMG
• Look for causes
Treatment:
• Physio , occupational therapy
• Wrist splints-(1)st line
• Steroid injections into the carpal tunnel
• Surgical decompression
Avascular necrosis of femoral head/osteonecrosis

*results from interruption of blood supply to the bone
Clinical features: non-specific symptoms and signs
• Painless in early stage
• Pain and limitation of motion-pain mostly localized to groin
area, sometimes in ispilateral buttock, greater trochanteric
region, and knee. Exacerbated with weight bearing and
relieved by rest
Causes:
• Traumatic, displaced femoral neck fracture, hip dislocation,
• Atraumatic- steroid , alcohol abuse,
DIC/coagulopathies/thrombophilias, chemotherapy,
radiation, sickle cell disease, vasculitis, SLE
Investigations:
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• Imaging- x ray hip, MRI hip(choice), bone scan
• Lab- CBC, Clotting profile, HB electrophoresis(sickle cell)
• Angiography(invasive means of confirmation)
X ray features- subcondral sclerosis, increased lucency, flattening
of femoral head, joint space narrowing, collapse of femoral head
MRI –low signal intensity band (indicate necrotic femoral head)
Treatment:
• Address risk factors if any
• Analgesics for pain
• Restricted weight bearing with use of a cane or crutches
• Surgical intervention
1. Prophylactic measures- core decompression( necrotic
femoral head is removed in order to stimulate repair),
often supplemented with bone grafting
2. Reconstruction procedures- hip replacement
Frozen shoulder/adhesive capsulitis

• Uncertain etiology of significant restriction of both active and
passive shoulder motion in the absence of known intrinsic
shoulder disorder
DD:
• Polymyalgia rheumatic with GCA
• Polymyositis
• Rotator cuff tendinopathy
• Osteoarthritis
• Calcific tendinitis, subacromial bursitis
• Cervical spondylosis
Causes:
1. Idiopathic
2. Secondary FSS- trauma, shoulder surgery, DM,
IHD,stroke,hopo and hyperthyroidism, parkinson’s disease,
HTN, drugs(Protease inhibitors, antiretrovirals), malignancy
Presenting illness:
• Initial freezing stage(painful)-dull pain at deltoid insertion,
pain on shoulder movement, inability to sleep on affected
side, nagging pain at night causing sleep disturbance,
marked limitation of active and passive shoulder rotation
• Frozen stage (stiffness)-stiffness and severe loss of shoulder
motion. Less pain
Past medical and surgical history..as above
Drug history*
Occupational history, handedness?
• Limitation of shoulder movement-active and passive
• Tenderness at deltoid insertion
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• It is a condition when the tissue around the shoulder joint
becomes inflamed making the tissue tighter and shrink
,causing pain and stiffness of shoulder joint , limiting the
movement of shoulder
• It is usually a self limiting condition over 1-2 years
• Treatment is with pain killers and physiotherapy
Investigations: clinical diagnosis
• CBC, ESR, CRP(PMR and GCA)
• Blood glucose
• TFT
• X-ray of shoulder joint
• MRI to rule out rotator cuff tear
Treatment:
• Physiotherapy
• NSAIDs, oral steroids, intra-articular steroids
• Surgery –only in refractory cases
Gout :
Can present as:
• Acute –monoarthritis/oligoarthitis
• Chronic tophaceous gout
DD of monoarthritis:
• Gout
• Septic arthritis
• Pseudogout
• Osteoarthritis
• Spondyloarthritis
• Tubercular arthritis
Presenting illness:
• Joint pain- distribution, severity, more at night?, swelling?
Colour changes? Relieving and aggravating factors, duration,
associated with low grade fever, functional status
• Exclude septic arthritis(high grade fever , rigors, foci of
infection),
• Risk factors( obesity, cancer, chemotherapy, CKD, alcohol
excess
• Exclude seronegative arthritis- bowel changes, urethritis,
psoriasis)
• History of trauma
Past medical history: cancer(lymphoma), PRV, CKD, HTN
Drug history: thiazides, chemotherapy
Personal- alcohol? Smoker
Dietary history- diet rich in purine?
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Travel history
Joint exam: look for swelling,redness, warmth
Check movement if no pain.
Look for tophi, functional status
Look for causes such as RRT for CKD, Lymphadenopathy etc
Ask to measure BP, dip urine for glycosuria(metabolic
syndrome)
• I think your joint pain is due to a condition called gout. It is
deposition of a chemical called uric acid in the joints leading
to inflammation
• We will do some blood tests, and draw a fluid from the joint
for confirmation and exclude infection in the joint, which is
crucial as infection can destroy the joint.
• We will address your pain with strong painkillers and antiinflammatory
medications. You may have to take another
medication after few weeks to reduce the frequency of
attacks.
• Dietary referral, reduce alcohol
Investigations:
• CBC, ESR, CRP
• RFT
• S.uric acid
• Aspiration of synovial fluid for analysis
• Blood culture if septic arthritis is suspected
• X ray of the joint.
Treatment :
• Acute – NSAIDs, Colchicine, steroids
• Chronic/recurrent- allopurinol , febuxostat, probenecid
• Dietary changes, reduce risk factors
• Physiotherapy, occupational therapy
Risk factors for gout:
1. Increased uric acid production
• High purine diet –meat, sea food, beer
• Lymphoproliferative and myeloproliferative disorders
• Psoriasis
• Obesity
• Chemotherapy
2. reduced uric acid excretion
• CKD
• Drugs-diuretics, ACEi, low dose aspirin, pyrizinamide,
ciclosporin
• Dehydration
• ketoacidosis
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Behcet’s disease
Stem-painful red and blurring of vision in one eye (anterior
uveitis)
Anterior uveitis associations:
• Rheumatological-Behcet’s disease, seronegative arthritis, RA
• GIT-IBD
• Infection-TB, Syphilis,herpes, lyme disease
• Sarcoidosis
DD:
• Conjunctivitis(gritty, itchy red eye, sticky in the morning,
purulent discharge)
• Scleritis-red eye, pain on eye movement, injected sclera
• Episcleritis- less painful than scleritis
• Acute ACG- Painful red eye, nausea, vomiting
• Trauma
Presenting illness:
• Painful red eye, photophobia, blurring
• Exclude above DDs
• Look for associations:
• Behcet’s disease- recurrent oral ulcers, recurrent painful
genital ulcers, skin lesions, multi-organ involvementvasculitis,
thrombosis, N/S-seizures, lungs-pul vasculitis,
HTN, pulmonary artery aneurysm, MSK-arthritis, GITbleeding,
abdominal pain, GU-urethritis, epididymitis, renal-
GN, Heart-pericarditis, endo and myocarditis
Past medical history: behcet’s disease, seronegative arthritis,
IBD, sarcoidosis
• Eye-circumlimbial injection, visual acuity-may be decreased,
pupil-small, irregular and non-reactive pupil, fundoscopykeratitic
precipitates, hypopyon
• Look for causes-oral ulcers, arthopathy etc…
Investigations:
• FBC, ESR, CRP
To look for causes
• Pathergy test
• Biopsy from affected site-eg skin, joint, kidneys, lungs etc
• Imaging of joints/chest/brain
Treatment:
Anterior uveitis
• Steroid eye drops
• Mydiatrics
• Systemic steroids and immunosuppressants in severe cases
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Treatment of cause:
Behcet’s disease-organ based(MDT approach)
• Oral and genital lesions-topical steroids, sucralfate solution.
Colchicine to prevent relapse. for severe mucocutaneous
lesions-systemic steroids and immunosuppressants
(azathioprine
• Ocular disease-azathioprine, steroids, interferon alpha
• GI lesions-sulfasalazine, steroids, azathioprine
Rheumatoid arthritis
DD:
• Psoriatic, enteropathic, ankylosing spondylitis, reactive
• SLE
• Crystal arthritis
• Osteoarthritis
Presenting illness (New or Old case)
• Joint pain- pattern, duration, stiffness, swelling, functional
status
• Nail changes?
• Colour changes? Raynaud’s phenomenon
• DD- skin rash? Bowel symptoms, urinary symptoms, heel
pain
• Extra-articular- red and painful eyes? Cardio-respiratory
symptoms, dry eye/dry mouth(sjogrens syndrome),
peripheral neuropathy
Past medical history- HTN
Drug history- NSAIDs?
Occupational history? Caplan’s syn
Family history*
Social history*
• Joints- symmetrical deforming polyarthopathy affecting
MCPs, PIPs and classically sparing DIPs
• Deformities- swan neck(flexion of DIP), boutonniere’s
deformities, Z deformity of thumb, ulnar deviation of
fingers, subluxation at MCPs
• Palmer erythema, wasting of small muscles of hand
• Look for rheumatoid nodules
• Check for hand function
• Eyes
• Lungs
• Abdomen-splenomegaly in felty’s syn
• Check BP, urine dipstick for GN
• I think the cause of your symptoms is due to rheumatoid
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arthritis. However, number of conditions look similar, we
need to do tests to confirm it
• I will request some blood tests and x rays of your hands and
then refer to rheumatologist(joint doctor)
• For your pain, I will start with NSAIDs and if the diagnosis is
confirmed, you will be given specific medication by the joint
doctor
• Physio and occupational therapy
• Support groups
Investigations:
Dx based on ACR/EULAR criteria
• CBC(neutropenia, anaemia)
• ESR
• CRP
• RF
• Anti-CCP
• X-ray of hands
• RFT, urine dipstick
• CXR
DX: RA, active or not? Functional status, ? look for mixed
connective tissue diseases, look for systemic manifestations
Treatment:
• General-edu, physio, occupational therapy
• Pharmacological- NSAIDs, steroids(intra-articular/pulse),
DMARDs, biologic agents(etanercept, infliximab)
Severe back pain in 73/f:

Details:
She lives alone, struggling at home. Known to have osteoporosis.
GP is concerned of another vertebral fracture.
RR-18,Pulse-90, bp-150/85, temp-38, spo2-98
*the patient has fever from above info.
DD to think of:
• Vertebral fracture due to osteoporosis
• Secondary metastases
• Discitis(coz of fever)
• Potts disease/tuberculosis of spine(fever)
Clinical communication skills:
• Presenting illness-
Establish nature of back pain(onset-gradual or rapid,
severity(disturbs sleep or not, daily activities?), exacerbating
and relieving factors, radiation, what precipitated? Any
trauma?
Fever, sweating (discitis)
Features of primary malignancies-lung, GI tract, breast,
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ovary
Exclude cord compression (leg weakness, bowel and
bladder control)
History of contact with TB patient
• Past medical and surgical history- patient will give history of
cut injury in toe 1 month back, history of vertebral fracture in
the past.
• Medication history-
Past- history of incomplete antibiotic course for the cut injury
1 month back
Present-alendronate 70mg once a week, calcium
supplements. Ask for any side effects?
• Personal history-smoking, alcohol
• Family history- mother had fracture at hip
• Social history-widowed,living alone
• Occupational history-retired school teacher
• Ask for pain and feel for the spine
• Examine lower limbs for tone, power, reflexes and check
sensation if time and also indicate the need to check
perianal tone and sensation
• Look at observation chart
• Indicates the need to look for signs of endocarditis( heart
murmur?)
Concerns and questions? Is it another fracture? Why I am
generally feeling unwell?
It is not likely a case of another fracture (but would do x ray
to exclude it). It is likely the part of adjacent vertebral bones
known as disc might be infected with a bug, and probably
the bug entered from the cut injury travelling in the blood
stream (due to incomplete antibiotic course) and finally
reaching the vertebra where the bone was previously broken
(as broken bones act as a favourable place for bugs to grow).
Because of the infection, you are feeling generally unwell.
Clinical judgement:
• Immediate management- admit in hospital, asses for signs of
sepsis syndrome, fluid balance
• Commence empirical antibiotic after taking blood sample for
culture( i/v flucloxacillin)
• Immediate tests- CBC, Blood culture, urea and electrolytes,
CRP, x ray spine and MR spine looking for evidence of
discitis/cord compression
• The need to discuss with the senior/consultant and liaison
with microbiologist and surgeon
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• Recognizes the abnormal bone(previous bone fracture as
nidus for infection)
Physical signs:
• Pyrexia( from the info)
• Excludes septic shock
• Identifies spinal tenderness and excludes cord compression
Probable diagnosis:
• Infective discitis presumed secondary to bacteremia
following incompletely treated soft tissue infection
Others:
• Osteoporotic fracture
Sarcoidosis
*multisystem inflammatory disease of unknown aetiology,
manifests as non-caseasting gralulomas
DD
• Tuberculosis
• NHL
Presenting illness
• Aymptomatic
• Fever, anorexia, arthralgia, fatigue
• Lungs-cough, chest pain, sob on exertion
• Lofgren’s syndrome-fever, polyarthralgias, bilateral hilar
lymphadenopathy
• Eye-uveitis
• Heart-heart block, sudden death,arrhythmias,
• Skin-erythema nodusum , lupus pernio,
• Lumps and bumps-lymphadenopathy
• NS-Hypothalamic pituitary sarcoidosis-DI and hypoginadism,
cranial nerve palsies, lymphocytic meningitis
Past medical history- TB? Drug history, Travel history, smoking?
Plan of action
• Sarcoidosis is a rare condition which causes inflammation in
organs mainly lungs and skin
• The exact cause is not known, thought to be auto-immune
• Will do some blood tests and obtain x ray of chest and
special scans of chest
• will consult with lung doctor and rheumatologist( based on
organ involvement)
• Most people don’t need treatment as the condition often
goes away on its own, usually within a few months or years.
Simple measures such as over the counter pain relievers are
required for flare ups
• but if critical organs are involved-then, treatment is usually a
steroid
Investigations:
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• CBC, ESR, CRP
• S.calcium
• S. ACE levels
• ECG
• Imaging-CXR, HRCT chest
• Lung function tests, transfer factor of CO
• Transbronchial biopsy
• Lymph node biopsy
• Gallium scan(used infrequently)
Treatment:
• Symptomatic therapy with NSAIDs
• Steroid and steroid sparing agent(MTX, Azathioprine),
infliximab
• Surgery-lung transplantation(stage 1v sarcoidosis)
Indications of steroid:
• Significant lung symptoms
• Involvement of heart, liver, eyes, kidneys, CNS
Staging of sarcoidosis:
• Stage 0-normal CXR
• Stage 1-BHL
• Stage 2-BHL with infiltrates
• Stage 3-infiltrates alone
• Stage 4-fibrosis
Vasculitis
• Small vessel
1. Wegener’s granunomatosis/granunomatosis with
polyangitis
2. Churg-strauss syndrome
3. Microscopic polyangitis
• Medium vessel- PAN, Kawasaki disease
• Large vessel-Giant cell arteritis, Takayasu’s arteritis
• Variable vessel-Behcet’s disease
• Associated with connective tissue disease-SLE, RA
• Cryoglobulinemia
Wegener’s granulomatosis:
Presenting illness:
• Recurrent upper and lower RTI
• Non-specific-fever, weight loss, fatigue
• Eye-uveitis,conjunctivitis , scleritis
• ENT-chronic sinusitis, rhinitis, epistaxis, serous ottitis media
• Lungs-pulmonary infiltrates, haemorrhage, haemoptysis,sob,
cough
• Heart-MI,pericarditis
• GIT-abdominal pain due to splanchnic vasculitis
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• Renal-crescenteric necrotizing GN, renal failure
• MSK-myalgias, arthralgia/arthritis
• Skin-palpable purpura,skin ulcers, livedo reticularis
• NS-mononeuritis multiplex, sensorimotor polyneuropathy,
cranial nerve palsies
Past medical history: RTI, rhinitis, hearing loss, renal failure
Drug history
Plan of action:
• It is a rare disease which causes walls of the blood vessels to
become inflamed
• The exact cause is not unknown, thought to be an
autoimmune disease
• It is a serious condition affecting multiple organs and tissues
• Will do blood tests and may need a biopsy
• Will refer to different disciplines of doctor- rheumatologists,
pulmonologists, nephrologists, ENT specialists
• Treatment will be to dampen down inflammation
Investigations:
Routine blood tests:
• CBC, ESR , CRP- normocytic normochromic anaemia,
leucocytosis
• RFT, S.Electrolytes
• CXR, CT chest
Specific:
• C-ANCA-Cytoplasmic antineutrophil cytoplasmic antibody
• Renal or lung biopsy
• Induction of remission-cyclophosphamide with steroid, MTX
with steroid, rituximab with steroid, plasma exchange
• Maintenance of remission-azathioprine, MTX
Polyarteritis nodusa
• Lungs are usually spared
• ANCA is usually negative
• Rx is steroids
Dermatomyositis:
• Can present as difficulty climbing stairs and rash around
eyes
DD: of proximal myopathy:
• Myositis-Dermatomyositis, polymyositis, inclusion body
myositis
• Polymyalgenia rheumatic
• Endocrine-hypo/hyperthyroidism , cushing’s syn
• Drugs-statins
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• Myasthenia gravis
• osteomalacia
Presenting illness:
• Proximal myopathy-difficulty standing up, raising arms.
Painful( myositis)or not(endocrine causes)? Any difficulty
with fine movements(distal myopathy), effect on daily life?
• Skin changes -heliotrope rash(violet colour, symmetrical
distribution in periorbital areas), gottrons papule
• Shortness of breath( ILD or respiratory muscle weakness)
• Dysphagia
• Alarm symptoms- features of malignancy(lung, breast , GI,
ovary)
• Exclude endocrine causes
Past medical history- malignancy,
Drug history*(statins, hydroxyurea,chloroquine)
Occupational history*, social and family history
• Eyes -Heliotrope rash over eyes associated with mild
periorbital oedema
• Hand-violaceous , scaly , papular rash on knuckles, elbows,
knees called gottron’s papules
• Arms-proximal myopathy
• Neck and chest- V shaped photosensitive rash(shawl sign).
Lung bases to exclude ILD
• Lower limbs-proximal muscle weakness with tenderness
• ? malignancies
• I think the cause of your symptoms may be due to a
condition called dermatomyositis. It is inflammation of the
muscles and skin due to overactive immune system
• We will do some blood tests and do some specific tests to
see electrical conduction of your muscles(EMG) and possibly
a muscle biopsy. We may have to do other tests which may
precipitate this condition(malignancy)
• We can address the pain with anti-inflammatory medications
and start specific management (steroids) one the diagnosis
is confirmed.
Investigations:
• CK
• ANA, anti-Jo 1 antibodies
• EMG(Spontaneous fibrillation)
• Muscle biopsy, skin lesion biopsy
• HRCT, lung function tests-ILD
• Malignancy screen
Treatment :
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• Avoid sun exposure, use of sunscreen
• Physiotherapy
• Specific-steroids, methotrexate, azathioprine, IV Ig may be
considered in refractory condition
Psoriatic arthropathy:
DD
• Rheumatoid arthritis
• Seronegative arthropathy(enteropathic, reactive, ankylosing
spondylitis)
Presenting illness:
• Joint pain- pattern/which joints? , swelling? Stiffness and its
duration? More at rest or activity? Functional status
• Skin rash, bowel symptoms, urinary symptoms, back
pain/neck pain
• Nail changes
• Extra-articular- apical pulmonary fibrosis, anterior uveitis,
Achilles tendinitis
Past medical history: IBD, Psoriasis, RA
Drug history: NSAIDs? Side effects?
Occupational * social and family history
• Pattern of joint involvement: asymmetrical oligoarthritis,
symmetrical rheumatoid like pattern, DIP arthopathy,
spondylitis, arthritis mutilans
• Nail changes?
• Finger-dactylitis
• Skin-psoriasis
• Lungs-apical fibrosis,
• Heart –AR?
• You have a condition called psoriatic arthopathy
• I will do some blood tests to see how active it is and also
obtain x rays of the joints.
• I will prescribe you anti-inflammatory painkillers and refer to
physio and occupational therapist.
• If symptoms don’t control with that, then will refer to joint
doctor.
• Support groups
Investigations:
Clinical diagnosis
• CBC, ESR, CRP
• X RAY of joints
• MRI sacroiliac joint
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• Medical-analgesia, NSAIDs , intra-articular steroid,
DMARDs(MTX, Sulphasalazine) , anti-TNF alpha
therapy(etanercept, infliximab, adalimumab)
Systemic lupus erythematosus

Presents with rash on face
DD of rash on face
• SLE
• Dermatomyositis
• Eczema
• Rosacea
• Mitral stenosis
• Carcinoid syndrome
Presenting illness:
• Facial rash- photosensitive
• Hair loss(alopecia)
• Mouth ulcers
• Lungs-Pleurisy and effusion
• Heart-Pericarditis/myocarditis/endocarditis
• Easy bruising(thrombocytopenia)
• Renal involvement –reduced urine output, ankle and facial
swelling, high blood pressure
• MSK-arthritis, raynaud’s phenomenon
• CNS-psychosis, seizures, depression, weakness/paraesthesia
• DD: MS(palpitations, sob, chest pain), acne rosacea(pustules,
flushing), carcinoid(flushing, diarrhoea, wheeze)
• Features of mixed connective tissue disorder
Past medical history: HTN, CKD, History of thrombosis, recurrent
miscarriage(APS)
Drug history-drug induced lupus-INH , hydralazine, phenytoin,
procainamide?
Social, occupational and family history
• scalp and face-alopecia, erythematous maculopapular malar
rash in butterfly distribution sparing nasolabial folds with
scaling, anaemia, oral ulcers.
• Hands- arthopathy(may be symmetrical) , raynaud’s
phenomenon, nail fold infarcts, palmer erythema
• Skin-purpura, livedoreticularis, vasculitic lesions,
• Chest-pleural effusion, ILD, pul HTN
• Heart- pericarditis(rub), cardiac murmurs due to libmansacks
endocarditis
• CNS-polyneuropathy/mononeuritis multiplex, hemiparesis
• Renal - ask to measure BP and urine dipstick
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Addressing patient’s concerns:
• I think the cause of your symptoms is called SLE due to
overactive immune system
• Unfortunately it can affect different organs, we will do blood
tests to confirm it and tests to exclude involvement of
different organs
• For your rash, we will prescribe sun block and once we
confirm diagnosis, our joint doctor might start you on
steroids and other immunosuppressants
• Support groups
Investigations:
ACR criteria(4 of 11 needed)
• CBC-pancytopenia?
• ESR(Raised in active disease), CRP
• Urine dipstick
• RFT
• Immunology- ANA, anti-dsDNA antibody, anti-smith antibody,
anti-Ro and anti La antibodies, anti-RNP antibody(mixed
CTD), anti-phospholipid antibodies(anti-cardiolipin antibodies
and lupus anticoagulant), C3 AND C4 decreased in active
disease
• Organ based:
1. Kidney- kidney biopsy
2. Lngs-CXR, CT chest
3. Heart-ECG, echo
4. CNS-MRI brain(neuropsychiatric manifestations)
5. Skin-skin biopsy
1. General measures
• Patient education and counselling
• Avoid excessive sunlight-sunscreens, hats
• Removal of offending drug
• Management of cardiovascular risk factors
2. Medical
• Analgesics, NSAIDs for arthritis (may worsen renal
involvement )
• Hydroxychloroquine, topical steroids for Skin disease
• In severe systemic disease-systemic steroids,
cyclophosphamide, azathioprine, MMF, monoclonal
antibodies(rituximab), IV Ig
• Autologous stem cell transplantation(for severe disease)
• RRT for end stage RF due to lupus nephritis
Drug induced lupus:
• H/O oF drug intake
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• Rare CNS and renal manifestations
• Positive anti-histone antibodies, negative dsDNA antibodies
• Resolution of clinical manifestations after discontinuation of
drug
• Male:female(1:1)
WHO lupus nephritis
Class I-normal
Class II-Mesangial GN-Consider steroids
Class III-Focal proliferative GN (AZA, MMF, CYCLO)
Class IV-diffuse proliferative GNClass
V-membranous GN-Steroid therapy, if proliferative
component (treat as above)
Class VI-sclerosing GN- Consider RRT
Systemic sclerosis
Presenting illness:
• Raynaud’s phenomenon- colour changes(pale, blue , red),
cold aggravates, relieving factors, duration, ulcers in finger
tips, amputation
• Joint pain
• Skin tightening –extent
• Respiratory symtoms (ILD, pul HTN)
• Ankle swelling( heart failure, pul htn, renal involvement)
• Dysphagia, diarrhoea(bacterial overgrowth), Primary biliary
cirrhosis
• Cardio(pericarditis, cardiomyopathy)
• Mixed connective tissue disease( Features of RA,
SLE,Dermatomyositis)
Past medical history: HTN, CKD, PUL fibrosis, PUL HTN, IHD,
autoimmune diseases (thyroid disorders)
Drug history:
Personal-smoker?
Occupational, social and family history
• Hands- sclerodactyly(shiny, smooth and tight skin),
raynaud’s phenomenon, atrophy of finger tips, digital
ulceration/gangrene, calcinosis, amputated digits, arthritis,
dystrophic nails, dilated nail-fold capillaries
• Face-pinched
nose,perioralpuckering,telangiectasia,microstomia/restrictive
mouth opening, tight and shiny face
• Lungs-fibrosis and pul HTN
• Ask to measure BP and urine dipstick
• You have a condition called systemic sclerosis due to
overactive immune system
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• We will do some blood tests to confirm it and also obtain x
ray of your chest as it can involve lungs, tests function of
kidneys as well
• I will refer to joint doctor for treatment of the condition.
• Support groups
Investigations:
• Inflammatory markers-ESR, CRP
• Urine dipstick
• RFT
• Anti-centromere antibody(limited SS)
• Anti-Scl 70 antibody(anti DNA topoisomerase 1), anti RNA
polymerase antibody I, II, III-diffuse SS,
• To see organ involvement:
1. Lungs-CXR, pulmonary function tests, HRCT
2. Heart-ECG, echo
3. Renal-renal biopsy
4. GIT-glucose breath test for bacterial overgrowth
Treatment of SS:
• General- edu and counselling, physiotherapy
• Treatment of raynaud’s phenomenon
1. General-smoking cessation, hand warmers, avoid cold
2. Medical-calcium channel blocker, ACEi/ARB, Prostacyline
analogues(iloprost), sympathectomy in severe cases
• Based on organ involvement
1. Renal involvement- ACEi
2. Respiratory disease-prednisolone, cyclophosphamide,
Bosentan(endothelin recep antagonist)
3. GI disease- PPI(for reflux symptoms), Metoclopramide for
bowel dysmotility, antibiotics for small bacterial
overgrowth
4. Skin sclerosis-methotrexate
Scleroderma- localised (morphea) and systemic(limited
and diffuse)
Diffuse-skin involvement in trunk and extremeties
Limited SS- only extremities and face
Limited SS is previously called CREST syndrome
Churg-Strauss Syndrome/eosinophilic granulomatosis with

polyangiitis
Three phases
• Allergic stage-asthma, allergic rhinitis,sinusitis
• Eosinophilic stage-
• Vasculitic stage
Presenting illness
• Allergic rhinitis and asthma, sinusitis, haemoptysis,
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eosinophilic pneumonia
• Constitutional-malaise, weight loss, fatigue, flu like
symptoms
• GIT-GI vasculitis, eosinophilic gastritis/colitis-abdominal pain,
diarrhoea, vomiting
• NS- mononeuritis multiplex*, stroke
• MSK-arthralgias
• Skin-nodules, urticaria, palpable purpura
• Heart-heart failure, carditis ,MI
• Renal- GN, renal failure, HTN
Past medical history-asthma
Pets
Physical exam
• Skin-palpable purpura, livedo reticularis
• Lungs-asthma, pneumonitis
• Urine dipstick
Plan of action
• It is inflammation of the small blood vessels
• The exact cause is not known, likely due to overactive
immune system targeting healthy blood vessels
• Will do blood tests and refer to different doctors depending
on the organ involvement
• Treatment is to dampen down inflammation initially with
steroids and based on organ damage
Investigations
• FBC with differential-eosinophilia, ESR, CRP
• RFT, s.electrolytes
• CXR, CT chest
• Lung function tests
SPECIFIC
• p-ANCA
• biopsy-skin , lung, kidney
• Steroids
• Rituximab, cyclophosphamide,azathioprine, MTX
• Treatment of asthma
Takayasu Arteritis
*large vessel vasculitis, affects women of child bearing age
DD
• Giant cell arteritis
• atherosclerosis
Presenting illness:
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• Asymptomatic (10%)
• Constitutional symptoms-headache, malaise, arthralgias,
fever, weight loss
• CVS-HTN, CCF, AR, Pericarditis, MI, raynaud’s phenomenon,
claudication
• N/S-headache, stroke, TIA,seizures, visual disturbance
• Skin lesions-erythema nodosum
Past medical history: HTN(Renal artery stenosis), heart
failure, stroke
Past surgical history*
Smoker*
Pregnancy*
• Peripheral pulses-decreased pulsation in brachial
arteries(one or both arm)
• Blood pressure-difference of at least 10mmhg of systolic BP
between arms*
• Neck-carotid bruit*, subclavian bruit, neck scars for previous
surgery
• Abdomen-renal bruit
• Heart- AR*, CCF, pulmonary hypertension
• Fundoscopy for hypertensive changes
• Your symptoms may be related to a condition called TA
• It is due to inflammation of the large arteries mainly
affecting the aorta(the main artery carrying blood from heart
to rest of the body) leading to narrowing of the artery and
hence when the organs don’t get the sufficient blood supply,
and symptoms occur
• I will arrange some blood tests today and obtain some tests
to scan the vessels
• Treatment is controlling your blood pressure and controlling
the inflammation initially with steroids
Investigations:
Diagnosis based on ACR criteria
• CBC-normocytic anemia, ESR, CRP may be high
• RFT, urine analysis to see renal involvement-HTN
• CT angiography or MRA to see stenosis or aneurysms,
carotid Doppler USG
• PET scanning
• Tissue biopsy-little role
• Echocardiogram
ACR diagnostic criteria(3 of 6 are necessary):
• Onset of disease 40 years of age or below
• Claudication of an extremity
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• Reduced brachial artery pulsation
• Difference in Systolic pressure of more than 10mmhg in arms
• Aortic or subclavian artery bruit
• Angiographic abnormality
Treatment
• Controlling hypertension, treating CVS risk factors
• Controlling inflammatory process- corticosteroids*,
cytotoxics-azathioprine, MTX, Cyclophosphamide,,, biological
agents-rituximab, infliximab
• Surgical-angioplasty and stenting, CABG
• Low dose aspirin
Prognosis: usually good, may follow relapsing and remitting
course
• 25% unaffected by the disease(self limiting )
• 25% are able to perform normal daily activity in remission
• 50% are unable to consistently perform normal daily
activities
• 25% will not able to do their work
Raynaud’s disease
Presenting illness-
• Hands- on exposure to cold, colour changes (white, blue and
red after warm exposure), pain, symmetrical? What relieves?
Duration? Effect on daily activities?
• Exclude raynaud’s phenomenon( systemic disease such as
SS, SLE, RA, Sjogren’s syndrome…..joint pain, skin tightness,
rashes, dysphagia, muscle aches and pains
• Other sites-tip of nose, ear lobes, toes
Past medical disease- SS, SLE, RA, Hypothyroidism,
atherosclerosis
Drug history- B-blockers, OCP, Bromocriptine, ergot
Personal history- smoker?*
Occupational –vibration injury?
• Examine hands-symmetrical involvement , sclerodactyly,
check hand functions
• Check pulse
• Look for associated conditions
• You may have a condition called raynaud’s disease. It is due
to poor circulation in the hands as the vessels supplying the
hands constrict abnormally in response to cold exposure. It
seems an isolated condition however we will have to exclude
any conditions which might associate with it
• B-blockers have worsened your condition, I will stop it and
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substitute with CCB
• Cessation of smoking and OCP is recommended
• Avoiding cold by using gloves and keeping warm can help.
There are tablets available which helps to open up the
circulation
Investigations: to exclude systemic diseases
• FBC, RFT
• TFT
• ESR
• RF
• Anti-centromere antibodies, anti-scl70 antibodies
• ANA, Anti dsDNA
• CXR-cervical rib
Treatment:
• Keeping warm, use gloves, smoking cessation
• Stop precipitating drugs-OCP, b-blocker
• Medical- CCB, ACEi/ARB, iloprost(prostacyline analogue)
infusion
Reactive arthritis
Stem-acute ankle joint pain with urinary problem
DD:
• Enteropathic arthritis
• Psoriatic arthritis
• Ankylosing arthritis
Presenting illness:
• painful inflammatory arthritis(Usu. After 1-4 weeks of
infection with Chlamydia, salmonella, shigella,
champhylobactor)
• malaise, fatigue, fever
• heel pain
• Low back pain
• History of Urethritis/ diarrhoea
• Conjunctivitis-irritation and redness
• Keratoderma blenorrhagicum-rash on palms and soles
• Exclude DD
Physical exam-joints (asymmetrical oligoarthritis),fingers(sausage
shaped finger-dactylitis), soles- Keratoderma blenorrhagicum,
conjunctivitis?
Past medical history-urethritis, dirrhoea/dysentery, psoriasis
Family history
Occupational history
Sexual history*
Travel history*
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• Reactive arthritis is inflammation affecting mainly the joints,
eyes. It usually occurs following infection in the bowels or in
the urine (following sexual exposure). May be genetically
predisposed.
• Diagnosis is based on clinical features , will do some blood
tests today and if the joint is swollen, will aspirate fluid for
studies
• Majority of the cases(70%) clears up in few months without
causing long term problems
• Will give you NSAIDs for the pain and if that doesn’t work,
will refer to joint doctor.
• Prevention-avoid STI and bowel infections- use condom,
hygiene
• FBC, ESR, CRP
• Serology and culture for Chlamydia(urine, blood, stool,
discharge)
• HLA B27
• Plain x ray on joints
• Synovial fluid analysis to rule out infectious process
Treatment:
• Medical- NSAIDs, steroids(systemic , intraarticular),
tetracycline if Chlamydia is positive, DMARDs,
• physiotherapy
Giant cell arteritis/temporal arteritis and PMR

*systemic inflammatory vasculitis, typically affects superficial
temporal arteries, also affects ophthalmic , occipital,
vertebral,proximal vertebral arteries
Presenting illness:
• Usually age more than 50 years
• Female to male-3.7:1
• Constitutional-fever, anorexia, malaise, myalgia, weight loss,
night sweats
• Headache-new onset headache, or new type of headache in
chronic headache, usu. Localized to temporal and occipital
area, throbbing/dull/boring/burning pain, scalp tenderness
while combing
• Neck, torso, shoulder, pelvic girdle pain and stiffness
consistent with PMR
• Jaw claudication
• Eye- blurring or vision loss, visual hallucinations, amaurosis
fugax
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• Others-limb claudication,TIA, stroke, tongue claudication,
multi- dementia etc….
Past medical history-
Personal-smoking increases risk
• Pulse
• Measure bp in both arms
• Visual acuity, visual field, fundoscopy- mainly anterior
ischaemic optic neuropathy(optic disc may be chalky white
and oedematous), also central and branch retinal artery
occlusion
• Scalp tenderness
• Auscultate carotid artery for bruit
• GCA is a condition in which medium and large arteries
usually in the head and neck, become inflamed.
• Will do some blood tests and
• Will start on high dose steroids to dampen down the
inflammation by consulting rheumatologist . It might lead to
blindness, so starting steroids at the earliest is crucial. Will
ask eye doctor to see you urgently, refer to surgeon to take
a tissue from the artery in the temple and study under
microscope for confirmation
• Steroids can weaken bones and for that, will start
prophylactic bone protection drugs, calcium and VIT D, GI
protection with PPI
Investigations:
• ESR, CRP
• CBC-mild normocytic normochromic anaemia
• Colour duplex USG of temporal artery-wall oedema
• Temporal artery biopsy
• Screening of large vessel aneurysm with CT scan
Treatment:
• High dose steroids as soon as on suspicion for 4 weeks, then
taper.( prophylactic PPI, bisphosphonates, calcium, vit D, low
dose aspirin)
• Steroid sparing- cyclosporine, azathioprine, MTX
Haemarthosis
DD:
• Crystal arthritis
• OA
• Gout
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Presenting illness:
• Joint –pain, swelling, warmth, decreased range of motion
• Ask for causes-trauma, bleeding disorder,
medications(warfarin)
• Exclude DDs
Past medical history- haemophilia
Past surgical history-surgery in knee joint
Drug history-warfarin
Investigations:
• Aspiration of synovial fluid and study/arthocentesis
• X-ray of the joint
• USG of joint
• Look for causes- haemophilia, PT, INR(warfarin)
Treatment:
• Drainage of blood from the joint
• PRICE strategy
• Treatment of cause- replacement of clotting factors in
haemophilia
• If severe arthritis-synovectomy and joint replacement
Ehlers-Danlos syndrome
Defect in collagen and connective tissue synthesis, 11 variants,
AD or AR Inheritance pattern.
Presenting illness:
• Skin changes-lax, easily extensible, skin fragility-purpura
• poor wound healing
• Eyes-myopia, glaucoma, retinal haemorrhage/detachment
• CVS- MVP, AR, MR, aortic dissection
• Lungs- pneumothorax
• GIT-bleeding, features of anaemia
• MSK-Osteoarthritis
Past medical history- Poor wound healing, heart diseases,
pneumothorax
Surgical history*
• Skin- thin (visible vessels), hyperextensible and elastic.
Impaired wound healing, cigarette paper scars. Purpura,
ecchymoses
• Joints-hyperextensible
• MSK-kyphoscoliosis
• Examine other system manifestations as above.
• It is group of inherited disorder affecting connective tissues
that support the skin, bones, blood vessels and many
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organs.
• I will refer to joint specialist for confirmation and geneticist
• Unfortunately, there is no specific treatment , but with
advice and support it is possible to manage many symptoms
• Advise to avoid contact sports and heavy lifting
• Physio and occupational therapist support
Investigations:
• Genetic testing
• ECHO
• CBC-anaemia
Treatment:
• VIT C/ascorbic acid-cofactor of collagen synthesis
• Organ based
Marfan syndrome
Can present as:
• Tall stature
• H/O Spontaneous pneumothorax
• Chest pain, palpitations, sob(AR)
Presenting illness:
• Pneumothorax-when? Frequency? How treated?
• Syncope,chest pain, sob, palpitations( aortic dissection, AR)
• Eye- vision problem?
• Joints-hypermobility?
• Joint pain/back pain?
• Learning difficulties, epilepsy, developmental
delay(homocystinuria)
Past medical history: penumothorax(collapsed lung), AR,
MVP,
Surgical history-chest drain?
Drug history-
Social, occupational, family
• Tall with disproportionately long limbs compared to trunk
• Hands- thumb sign(steinberg sign)), wrist sign,
arachnodactyly, joint hyperextensibility of joints
• Kyphoscoliosis
• Eyes-lens displaced upward, heterochromia? Blue sclera?
Myopia, RD, Iridodenesis(inspect closely)
• Mouth-high arched palate, crowding of teeth
• Heart- AR? MVP?
• Lungs-pectus excavatum or carinatum, chest drain scars, ?
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pneumothorax?
• Pes planus
• Your symptoms may be due to a condition called marfan syndrome . it is
inherited condition affecting muscles, joints and sometimes can affect heart and
eyes.
• We will do tests to exclude problem with the heart and refer to eye doctor for
assessment for any eye problem
• Treatment is symptomatic with treatment of underlying condition associated
with it
• Support groups
Investigations: clinical diagnosis based on revised Ghents criteria
• ECHO
• Back pain(dural ectasia)-MRI
• Genetic testing- fibrillin 1 gene
Treatment:
• Cardiac- lifelong B-blockade, elective aortic root replacement
when diameter is >50mm or if dilatation is occurring at
>5mm/year or if there is family history of dissection
• Opthalmological follow up
Osteogenesis imperfecta
• Can present as history of fracture with blue sclera
DD:
• Marfan syndrome
• Ehlers danlos syndrome
• Pseudoxanthoma elasticum
Presenting illness:
• Fractures- where? Frequency? Cause(low impact)
• Chest pain, syncope, sob(AR)
• Hearing loss
• Hypermobility of joints
Past medical and surgical history: fracture, AR
Drug history: steroid use?
Occupational , social and family history*
• Short stature as opposed to Marfan’s, kyphoscoliosis
• Face- blue sclera, hearing aids?, dentinogenesis imperfecta,
• Locomotor-evidence of previous multiple fractures, bowing of
long bones, joint hypermobility,
• Heart-AR/surgical scars
• Skin-hyperlaxity
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• I think your fractures and the problem with the eyes are
connected and may be due to a condition called
osteogenesis imperfecta. It is a condition where there is
rapid formation and destruction of bone leading to weakened
bone.
• We need to do some tests to confirm it and tests to see the
thickness of your bone.
• Treatment involves preventing fractures by giving
medications to strengthen the bone
• It is inherited condition, and will refer to geneticist as there
will be implication if you want to have children in the future
• Genetic testing defect in collagen type 1 synthesis gene
• DEXA scan
• Echocardiography
Treatment:
• Patient edu and genetic counselling
• Calcium, vit D, bisphosphonates
• Orthopaedic interventions for fracture, hearing aids
Paget’s disease
Bone pain and raised ALP
• Pagets disease
• Osteomalacia
• metastases
Presenting illness:
• Bony pain
• Fractures
• Increasing hat size
• Hearing loss
• Alarm symptoms-high output cardiac failure, cord
compression
• Features of OA and gout associated with it
Drug history: Bisphosphonates?
Occupational, social , family history*
• Collapsing pulse(hyperdynamic)
• Enlargement of the skull-frontal bossing, enlarged maxilla
• Deformities of long bones- bowing of tibia, previous fractures
• Kyphosis
• Hearing aid?(CN 8TH nerve), other CN nerves may be affected
• Exclude osteomalacia- proximal myopathy
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• Heart –CCF?
• Pagets disease –due to high turnover of the bones
• We will do x rays and blood test(ALP), also check vit D and
calcium levels as it can cause similar symptoms
• We will address your pain with analgesia
Investigiations:
• ALP(raised), calcium and phosphorus levels are often normal
• VIT D(normal)
• Imaging- x ray and bone scintigraphy/isotope bone
scan(areas of increased uptake in pagetic bone)
Treatment:
• Medical-NSAIDs, Bisphosphonates, cal and vit D supplements
• Orthopaedic interventions
Von-Hippel-Lindau(VHL) disease
*rare genetic disorder characterized by visceral cysts and benign
tumors in different organs that have potential for malignant
change
*autosomal dominant
Presenting features
• Pheochromocytomas
• Eye-retinal haemangiomas/haemangioblastoma, retinal
detachment, vision loss
• CNS(brain and spinal cord)-haemangioblastoma-usually arise
from cerebellum
• Kidney-renal cysts, renal cell carcinoma(common cause
of mortality)
• ear-endolymphatic sac tumours of middle ear-hearing loss,
tinnitus, vertigo
• pancreas-cysts, pancreatic cancer
• ovarian cyst in women, epididymal cyst in men
Past medical history-HTN, RCC
Surgical history-nephrectomy
Family history*
Plan of action:
• is a rare inherited disorder caused by faulty gene causing
cysts and tumors in different organs mostly eyes,
cerebellum, spinal cord, kidneys, and pancreas
• most tumours are benign but with subsequent malignant
potential
• genetic counselling-each of the children will have 50%
chance of inheriting the disease
• will do some blood tests and scans all over the body
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• management is done based on organ involvement by
respective doctors in the area
• needs screening of family
• needs annual screening to see organ involvement
Investigations:
• CBC-Polycythaemia(due to EPO secretion from renal cysts
and CNS haemangioblastoma)
• RFT, Electrolytes
• Pheochromocytoma investigation
• Imaging-
1. USG abdomen-renal cysts, RCC, pancreatic cysts
2. CT scan abdomen
3.MRI abdomen
4. Brain CT/MRI
5. Ocular colour Doppler USG
• Genetic testing for VHL gene
Treatment: MDT approach based on organs involved
• General-genetic counselling, education
• Depends on specific complications/organs involved- Surgical
excision of tumours/cysts
• Ophthalmic surgery-laser photocoagulation, cryotherapy,
vitreous surgery, radiation
Screening/follow up
• Yearly eye examination
• Yearly physical exam
• Yearly 24 urine test to screen for elevated catecholamines
• Yearly abdominal USG In teenage, CT abdomen in adulthood
• MRI of brain and spinal cord 2 yearly
Acute cases
Acute Kidney Injury

DD:
• Pre renal- hypovolumia (diuretics, vomiting, diarrhoea,
haemorrage, pancreatitis,burns, decreased renal perfusion
due to sepsis, anaphylaxis, heart failure, ACEi and ARB in
volume depleted patients, hepatorenal syndrome)
• Renal- ATN, Tubulo interstitial nephritis, GN
1. Vascular( renal vein/artery obstruction with thrombosis
and emboli, microangiopathy(TTP, HUS, DIC), scleroderma
renal crisis, malignant HTN
2. Glomerular causes (anti-GBM disease/goodpsature
syndrome, ANCA-associated glomerulonephritis,
postinfectious GN)
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3. Tubular-rhabdomyolysis, tumour lysis syndrome,
aminoglycoside, contrast agents, lithium
4. Interstitial causes- Drugs such as penicillins,
cephalosporins, NSAIDs, PPI…, pyelonephritis, lupus,
sarcoid
• Post renal-renal outflow tract oubstruction-stone disease,
stricture, tumours, thrombosis, fibrosis
Presenting illness:
• Reduction in urine output, dysuria, frequency, haematuria
• Uraemia?- restlessness, confusion(encephalopathy), chest
pain(pericarditis)
• Fluid overload( dyspnea, oedema) or hypovolumia( thirsty ,
dizziness)
• Look for the causes as above
Past medical history- DM, HTN, connective tissue diseases,
vasculitis, PKD, renal stone,
Drug history*
• Observation chart-Pulse, BP, urine output
• Examine fluid status- hypervolumia or hypovolumia
• Uraemia- flapping tremor, confusion
• Abdomen-palpable PKD, palpable bladder in obstruction
Investigations:
• RFT
• S.Electrolytes
• ABG
• LFT
• ECG(hyperkalaemia)
• USG renal tract
• Cxr(fliud overload)
• Look for the causes
Treatment:
• Stop nephrotoxic medications
• i/v fluids to optimize volume status
• adjust antibiotic doses for renal dysfunction
• management of hyperkalaemia
• haemodialysis may be needed
Sub acute intestinal obstruction

Stem: recurrent vomiting and abdominal pain
*intestinal obstruction for short duration in a patient who has
previously undergone abdominal surgery, often incomplete
obstruction and often will settle with conservative
management
120
Causes:
• Adhesions-post surgery, tuberculosis
• Stricture of small bowel-chron’s , tuberculosis
• hernias
Presenting illness:
• Recurrent vomiting
• Recurrent crampy abdominal pain
• Abdominal distension
• Visible/palpable bowel loops
• Gargling noises
• constipation
• Features of Tuberculosis?
Past medical and surgical history-abdominal surgery*,
previous radiation, IBD, malignancy
Plan of action:
• Seems like your bowels have difficulty moving the
contents due to narrowing and bends in the bowel
because of adhesions. It can happen following abdominal
surgery
• Will do some blood tests and obtain x-ray, usg scan and
special scan called CT scan after drinking some contrast
liquid to see the affected bowel
• Will get an opinion from surgical team
• Treatment is laxatives, anti-sickness medication, pain
relievers
• But if the bout of SABO is bad, need to rest bowel
completely without taking anything from mouth
• Surgery is usually not helpful as obstruction can be at
multiple levels , but obviously will get an opinion from the
surgeon.
• Give tips about diet-low fiber diet, eat small servings, 5/6
times a day, softer foods, drink fluids,
Investigations:
• CBC
• RFT, S.electrolytes
• RBS
• LFT
• IMAGING- plain x ray, USG, contrast CT scan abdomen
• Diagnostic laparoscopy
Treatment: MDT approach-surgical team consultation
Can be managed with:
• Laxatives-lactulose, laxido
• Anti-emetics
• Pain relievers-
121
• Short course of steroids
If bad bout of SABO,then
Conservative:
• Frequent mouth care
• Rest the bowel-Nil by mouth with or without NG tube
• IV hydration
• Introducing liquids
Surgery may be required
Treatment of cause- TB, chron’s
Fever in returning traveller

DD:
1. Short incubation(less than 10 days)
• Dengue fever
• Typhoid
• legionnaire’s disease
• Meningococcal infections
• Acute HIV infection
• Influenza
• Rickettsial infections
2. Medium incubation(less than 1 month)
• Hepatitis A
• Amoebic liver abscess
• CMV
• Shistosomiasis
3. Long incubation
• Malaria
• Tuberculosis
• Lyme disease
• Brucellosis
• Histoplasmosis
Presenting illness:
• Fever-onset, duration, pattern, chills and rigors, night
sweats
• Neuro-headache, neck stiffness, photophobia, rash,
altered consciousness, weakness, seizure
• ENT-sorethroat, ear ache,facial pain, voice change,
runny nose
• Respiratory- cough, sob, pleuritic chest pain, purulent
sputum
• CVS-Palpitations, dyspnea, chest pain
• Abdomen-abdominal pain, nausea, vomiting, diarrhoea,
distension, constipation, haematochezia, maelaena,
haematemesis, jaundice
122
• Genitourinary- dysuria, increased frequency, genital
ulceration
• MSK-joint pain, stiffness, swelling
• Skin-rash, oral ulcers
*make sure to document whether symptoms started before ,
during or after return form travel
Travel history: dates of travel, duration of stay in each region,
urban/rural, accommodation (camping, hotel,rural dwelling,
guesthouse), means of transportation
Exposure history:
• Sexual history(homo/heterosexual, no.of partners,
barrier protection)
• Animal contact-birds, rodents
• Insect exposure-bites of mosquitoes, ticks
• Needle and blood exposure-shared needle, tattoes,
piercings
• Food and drink-
• Soil or water contacts-freshwater lakes
Medical and family history- pevious HIV test, splenectomy?
Medications- immunosuppressive?
Vaccinations? Hep A, B, meningococcus, influenza, yellow fever,
typhoid
Chemoprophylaxis?....malaria prophylaxis(regimen, compliance,
duration before and after travel)
• Explain the likely cause of fever
• Explain about investigations
• Give info about travel clinics, safe sexual practice,
malaria prophylaxis, insect avoidance, food and water
precautions
• Obtain help from infectious disease specialist and
microbiologist
• Pulse, temperature
• Anemia, jaundice, neck stiffness
• lymphadenopathy
• skin rashes
• lungs
• abdomen-hepatosplenomegaly
Investigations:
• CBC, ESR, CRP
• LFT, RFT, S.Electrolytes
Specific to diseases:
• Thick and thin film for malaria
• CXR, Sputum for AFB…TB
123
• Anti HIV
• Dengue serology
• Urinary legionella antigen
• Blood /urine/stool culture for typhoid
Treatment:
According to the cause
Lithium toxicity
Stem…38/M with DM, HTN, asthmatic, smoker with tremors.
Tremors for last 20 years back due to salbutamol inhaler but changed its
character
in two weeks. Mainly intentional (while holding objects). Started on lithium for
mood
change 6 months back. On lisinopril, HCT, metformin. Has been suffering from
traveller’s diarrhoea.
Dx: lithium toxicity precipitated by diarrhoea, diuretics and ACEi
DD: cerebellar syndrome due to other causes, thyrotoxicosis
Notes:
Three categories of toxicity
• Acute-mainly GI
• Acute on chronic-both GI and neurological involvement
• Chronic-only neurological manifestations.
Desired serum level: 0.6-1.2mEq/L
Lithium clearance is mainly through kidneys, minimally protein bound so it is
filtered at a rate that depends on GFR
Acute lithium toxicity
• GI-nausea, vomiting, cramping, diarrhea.
• CNS involvement in some cases-tremor,ataxia
• Cardiac dysrrythmias(rare)- t wave flattening
Chronic :
• CNS- tremor, seizures, altered mental status, coma. SILENT
syndromesyndrome
of irreversible lithium effectuated neurotoxicity(cognitive
impairment, cerebellar dysfunction,peripheral neuropathy)
• Renal toxicity-nephrogenic DI, neprhotic syn, chronic TIN, renal tubular
acidosis
• Endocrine-hypothyroidism
• Aplastic anaemia
Precipitants of lithium toxicity:
• Diuretics-promotes renal sodium wasting
• ACEi-reduce GFR and enhance tubular resorption of lithium
• NSAIDs-reduces GFR
• Diarrhoea/dehydration
Investigations:
• Blood lithium level
124
• S.electrolytes, RFTs, urine analysis
• TFTs
• ECG- Non specific and diffuse ST segment depression, T wave inversion,
arrythmias
Management:
Supportive therapy(mainstay of treatment)
• GI decontamination if presented within 1 hour of ingestion. Activated charcoal
has no role
• Enhanced elimination:
1. fluid therapy(Normal saline)
2. hemodialysis- for those with renal failure and unable to eliminate lithium,
for those who cannot tolerate hydration(CCF, Liver disease), consider for
those with severe signs of neurotoxicity(seizures, profound altered mental
status), consider if chronic toxicity with symptoms plus lithium level of
more than 2.5 or acute with symptoms plus lithium level 4 or more
• stop precipitant drugs
Prognosis:
• mostly favorable outcome
• 10% develop chronic neurological sequel
125

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Endocrine cases

8-MEN type 1 syndrome

16-Benign essential Tremor:

18-Epilepsy, 1st episode of seizure

Idiopathic intracranial hypertension

21-Lower motor neuron facial nerve palsy

25-Peripheral neuropathy: mixed /sensory neuropathy

31-Uncomplicated MI 5 weeks ago, now presents with fatigue:

40-Henoch schonlein purpura:

41-Hereditary hemorrhagic telangiectasia/ Osler-Weber- Rendu-Syndrome

42-Paroxysmal Nocturnal Haemoglobinuria

43-Polycythaemia rubra vera

49-Papilloedema(Usu bilateral , can be unilateral)

50-Retinal vein occlusion

53-Obstructive sleep Apnea

55-Hypersensitivity pneumonitis /Extrinsic allergic alveolitis

67-Porphyria cutanea tarda

69-Acute intermittent porphyria

Carpal tunnel syndrome

Avascular necrosis of femoral head/osteonecrosis

Frozen shoulder/adhesive capsulitis

Severe back pain in 73/f:

Systemic lupus erythematosus

Churg-Strauss Syndrome/eosinophilic granulomatosis with

Giant cell arteritis/temporal arteritis and PMR

Acute Kidney Injury

Sub acute intestinal obstruction

Fever in returning traveller

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