CLINICAL CASE

P. 34 years old, woman

Complaints: inflammatory arthralgia, symmetrical in the joints of the upper limbs (MCF, RC,
cubital) and in the joints of the knees, myalgia mainly of the scapulo-humeral belt, fever (38.0-
38.50C), pronounced fatigability, alopecia, ulcers oral cavity, photosensitivity after sun exposure.
History: Rashes in the oral cavity, painless, appeared periodically in the patient for approximately 1
year. Over time, fatigue, alopecia, photosensitivity appeared after sun exposure. She did not go to
the doctor, yet followed a sinister treatment with dietary supplements, but without improvement.
Arthralgia, myalgia, pronounced fatigue appeared for 1 month. For 5 days there was fever (38.0-
38.5°C), erythematous eruptions in areas exposed to the sun, ulcers in the mouth, pronounced
fatigability.
Clinical examination: Pink-pale teguments, erythematous eruptions in the neck region and
shoulders, livedo reticularis. In the hairy part of the head - diffuse (non-scarred) alopecia, thin, dry
hair. In the oral cavity - ulceration of the mucous membrane, painless. Peripheral lymph nodes do
not palpate. At the auscultation of the lungs - bladder respiration. Rhythmic, clear heartbeat. Ps -
72b / min, TA 120/80 mmHg. Stomach soft, painless to palpation. Free, painless urine.
MCF joints feel pain, slightly swollen.
Radiocarpal joints swollen, pain on palpation.
Elbow joint pain, palpable mobility, pain-free mobility.
Common knee joints, sensitive to palpation, mobility preserved, painless.
Paraclinical examination:
 CBC
Erythrocytes 3,9x1012/l 3,9-5,7 x1012/l
Hb 111 g/dl 121-162 g/dl
leukocytes 3,1x10 /l 3,9-9,6 x109/l
9

platelets 160x109/l 150-390 x109/l

Average RBC volume 70 fl 80-100fl
CHEM 30 g/dl 32-35 g/dl
ESR 20 mm/h 2-15 mm/h
CHEM - The average concentration of red blood cell hemoglobin

Blood Biochemistry:
Result Reference values Result Reference values
Total Protein 78 g/l 64-83g/l Albumin 4,1 g/dl 3,5-5,2 g/dl
Urea 6,7 mmol/l 2.5-9.2 mmol/l Cholesterol 4,8 mmol/l 0-5,2 mmol/l
Creatinine 71 mmol/l 53-115 mmol/l Triglyceride 1,0 mmol/l 0-1,7 mmol/l
Glucose 4,3mmol/l 3,3-5,5 mmol/l Ca ionic 0,9 mmol/l 0.8-2.6 mmol/l

ASLO 156 IU/ml <=200 IU/ml

RF 4,16 IU/ml <14 IU/ml
Reactive Protein C 5,71 mg/L <5 mg/L
ANA 25 • < 0.7 : negative
• 0.7-1 : equivocal
• >1      : positive1
Anti-DNAds 60 UI/ml <10 UI/mL : negative
10-15 UI/mL : equivocal
>15 UI/mL : positive 1
Anti Ro 20 U/ml <7 U/mL :    negative
 7-10 U/mL : equivocal
>10 U/mL:   positive1
Anti-Sm 15 U/ml <5 U/mL :    negative
5-10 U/mL : equivocal
>10 U/mL:   positive1
Anti-CCP 2,5 U/ml <7 U/mL :    negative
7-10 U/mL: equivocal
>10 U/mL:   positive1

Urine summary examination: Color - yellow, transparent; relative density - 1021, proteins - neg, flat
epithelium in small quantities, leukocytes 3-4 c / v; erythrocyte - 0-1c / v.

1. What is presumptive diagnosis?

2. Based on the symptoms/signs/syndromes described in this case give the argument of presumptive
diagnosis.
3. Describe the picture (from above)
4. Indicate the laboratory investigations necessary to confirm the diagnosis, arguing that each of
them should be performed.
5. Indicate the instrumental investigations necessary to confirm the diagnosis, arguing that each
should be performed.
6. Perform the differential diagnosis and argument it.
7. Make the definitive diagnosis with argumentation and formulation according to classification of
the disease.
8. Elaborate the treatment tactics and prescribe medical or surgical treatment with their arguments.
9. Prescribe a recipe of the base medicine.
10. Elaborate the basic messages in patient education/ patient recovery strategy.
Answers
1.The presumptive diagnosis- Systemic lupus erythematosus.

2.The symptoms/signs

 Fatigue
 Fever
 Joint pain, stiffness and swelling
 Butterfly-shaped rash on the face that covers the cheeks and bridge of the nose or rashes
elsewhere on the body
 Skin lesions that appear or worsen with sun exposure (photosensitivity)
 Fingers and toes that turn white or blue when exposed to cold or during stressful periods
(Raynaud's phenomenon)
 Shortness of breath
 Chest pain
 Dry eyes
 Headaches, confusion and memory loss
 Alopecia

3.Describe the picture (from above)

In pictures I saw butterfly-shaped rashes on the chest , alopecia, mouth ulcer, what ,ake me to think
is autoimmune disease- Systemic Lupus Erythematosus.

4. The laboratory investigations necessary to confirm the diagnosis

Lupus is a difficult disease to diagnose, because its symptoms can be vague. And unlike some other
diseases, it cannot be diagnosed with a single lab test. However, when certain clinical criteria are
met, lab tests can help confirm a diagnosis of lupus. Blood work and other tests can also help
monitor the disease and show the effects of treatment.

 Blood Tests for Lupus

 Antinuclear Antibody (ANA)

 What it is: ANA is a type of antibody directed against the cells' nuclei.

 Why the test is used: ANA is present in nearly everybody with active lupus. Doctors often
use the ANA test as a screening tool. Plus, looking at patterns of the antibodies can
sometimes help doctors determine the specific disease a person has. That, in turn, helps
determine which treatment would be most appropriate.
 Limitations of the test: Although almost all people with lupus have the antibody, a positive
result doesn't necessarily indicate lupus. Positive results are often seen with some other
diseases and in a smaller percentage of people without lupus or other autoimmune disorders.
So a positive ANA by itself is not enough for a lupus diagnosis. Doctors must consider the
result of this test along with other criteria.

 Antiphospholipid Antibodies (APLs)

 What it is: APLs are a type of antibody directed against phospholipids.

  Why the test is used:  A positive test is also used to help identify women with lupus that have
certain risks that require preventive treatment and monitoring. Those risks include blood
clots, miscarriage, or preterm birth.
 Limitations of the test: APLs may also occur in people without lupus. Their presence alone is
not enough for a lupus diagnosis.

5. The instrumental investigations necessary to confirm the diagnosis

Organ-specific diagnostics as required

 Skin/oral mucous membrane
 Biopsy: histology, immunofluorescence if indicated
 Joints
 Conventional X-ray
 Arthrosonography
 Magnetic resonance imaging (MRI)
 Muscle
 Creatine kinase
 Electromyography
 MRI
 Muscle biopsy
 Kidney
 Sonography
 Renal biopsy
 Lung/heart
 Chest X-ray
 Thoracic high-resolution computed tomography (HR-CT)
 Lung function test including diffusion capacity
 Bronchoalveolar lavage
 (Transesophageal) echocardiography
 Cardiac catheterization
 Cardiac MRI
 Myocardial scintigraphy
 Coronary angiography
 Eye
 Funduscopy/special investigations in patients on antimalarials
 Central and peripheral nervous system
 Electroencephalography
 Primarily cranial MRI, special MRI techniques if indicated
 Computed tomography
 Cerebrospinal fluid analysis
 Transcranial Doppler/angiography
 Neuropsychiatric examination
 Measurement of nerve conduction velocity
6. The differential diagnosis

Adult-onset Arthralgia, fever, Tests for elevated ESR,

Still disease lymphadenopathy, leukocytosis, and anemia
splenomegaly

Behçet Aphthous ulcers, Recurrent oral ulcers plus two of

syndrome arthralgia, uveitis the following: eye lesions, genital
ulcers, skin lesions

Chronic Persistent and Tests to rule out other diseases:

fatigue unexplained fatigue complete blood count, ESR, CRP,
syndrome that significantly complete metabolic panel, TSH,
impairs daily activities urinalysis

Endocarditis Arterial emboli, Positive echocardiography findings

arthralgia, fever, heart with vegetation on heart valve;
murmur, myalgia positive blood culture

Fibromyalgia Poorly localized pain 11 of 18 sites (bilateral) perceived

above and below waist as painful. Posteriorly, the sites are:
on both sides, occiput, trapezius, supraspinatus,
involving neck, back, gluteal, greater trochanter.
and chest Anteriorly, they are: low cervical,
second rib, lateral epicondyle, knee

HIV infection Arthralgia, fever, Western blot assay for detection of

lymphadenopathy, HIV antibodies
malaise, myalgia,
peripheral neuropathy,
rash

Inflammatory Diarrhea, peripheral Colonoscopy to assess disease

bowel disease arthritis, rectal activity; measure CRP level,
bleeding, tenesmus platelets, and ESR; test for anemia

Lyme disease Arthritis, carditis, Serologic testing for Lyme disease

erythema migrans,
neuritis

Mixed Arthralgia, myalgia, Tests for elevated ESR and

connective puffy fingers, Raynaud hypergammaglobulinemia, positive
tissue disease phenomenon, anti-U1RNP antibodies
sclerodactyly

Psoriatic Psoriasis before joint Inflammatory articular disease and

arthritis disease, nail changes in more than three of the following:
fingers and toes psoriasis, nail changes, negative
rheumatoid factor, dactylitis,
radiographic evidence of new bone
formation in hand or foot

Reactive Acute nonpurulent Clinical diagnosis to identify

arthritis arthritis from infection triggers; serologic findings of recent
elsewhere in the body infections may be present

Rheumatoid Morning joint stiffness Positive tests for rheumatoid factor

arthritis lasting more than one and anticyclic citrullinated
hour; affected joints antibodies; synovial fluid reflects
are usually symmetric, inflammatory state
tender, and swollen

Sarcoidosis Cough, dyspnea, Chest radiography, bilateral

fatigue, fever, night adenopathy with biopsy revealing
sweats, rash, uveitis non-caseating granuloma, elevated
angiotensin-converting enzyme
level

Systemic Arthralgia, decreased Tests for specific autoantibodies

sclerosis joint mobility,
myalgia, Raynaud
phenomenon, skin
induration

Thyroid Dry skin, fatigue, Measure TSH

disease feeling cold, weakness

A doctor who has experience with Lupus / SLE will usually make the correct diagnosis without any
uncertainty. However, in special cases, diagnosis can be difficult. The suggestions below can then
be considered.

 Fever
 IN FEC TI ON
Fever that does not respond to prednisolone 30mg / d is not typical of SLE
Consider opportunistic infections (Pneumocystis jiroveci (PCP) Legionella, Nocardia
asteroids, Aspergillosis, Kryptococcus, Mycoplasma pneumoniae, Chlamydia
pneuoniae, Listeria, Toksoplasose , Atypical mycobacteria, cytomegalovirus (CMV), BK
virus (Similar to JCV), EBV (Ebstein-Barr Virus), Adeno-virus, Hepatitis B, HIV, Hepatitis
C. Borrelia miyamoti

 OTHER A UTOI MMU N E D IS EA S E

 Adult Stills disease
 ALPS (Autoimmune Lympho-Proliferative Syndrome)
 Hemolytic anemia
 Neutropenia
 Lymph nodes are swollen
 Splenomegaly (large spleen)
 Thrombocytopenia
 Periodic Fever Syndrome / Auto-Inflammatory Disease
 Sweet's syndrome

7. Definitive diagnosis- Systemic Lupus Erythematous

Clinical criteria
 Acute cutaneous lupus erythematosus (including “butterfly rash“)
 Chronic cutaneous lupus erythematosus (e.g., localized or generalized discoid lupus
erythematosus)
 Oral ulcers (on palate and/or nose)
 Non-scarring alopecia
 Synovitis (≥ 2 joints) or tenderness on palpation (≥ 2 joints) and morning stiffness (≥
30 min)
 Serositis (pleurisy or pericardial pain for more than 1 day)
 Renal involvement (single urine: protein/creatinine ratio or 24-hour urine protein,
>0.5 g)
 Neurological involvement (e.g., seizures, psychosis, myelitis)
 Hemolytic anemia
 Leukopenia (<4000/μL) or lymphopenia (<1000/μL)
 Thrombocytopenia (<100 000/μL)
Immunological criteria
 ANA level above laboratory reference range
 Anti-dsDNA antibodies
 Anti-Sm antibodies
 Antiphospholipid antibodies (anticardiolipin and anti- β 2-glycoprotein I [IgA-, IgG-
or IgM-] antibodies; false-positive VDRL [Venereal Disease Research Laboratory]
test)
 Low complement (C3, C4, or CH50)
 Direct Coombs test (in the absence of hemolytic anemia)

8-9. The treatment tactics and prescribe medical or surgical treatment

 Nonsteroidal anti-inflammatory drugs (NSAIDs). Over-the-counter NSAIDs, such as

naproxen sodium (Aleve) and ibuprofen (Advil, Motrin IB, others), may be used to treat pain,
swelling and fever associated with lupus. Stronger NSAIDs are available by prescription. Side
 effects of NSAIDs include stomach bleeding, kidney problems and an increased risk of heart
problems.

 Antimalarial drugs. Medications commonly used to treat malaria, such as

hydroxychloroquine (Plaquenil), affect the immune system and can help decrease the risk of
lupus flares. Side effects can include stomach upset and, very rarely, damage to the retina of
the eye. Regular eye exams are recommended when taking these medications.

 Corticosteroids. Prednisone and other types of corticosteroids can counter the inflammation

of lupus. High doses of steroids such as methylprednisolone (A-Methapred, Medrol) are often
used to control serious disease that involves the kidneys and brain. Side effects include weight
gain, easy bruising, thinning bones (osteoporosis), high blood pressure, diabetes and increased
risk of infection. The risk of side effects increases with higher doses and longer term therapy.

 Immunosuppressants. Drugs that suppress the immune system may be helpful in serious

cases of lupus. Examples include azathioprine (Imuran, Azasan), mycophenolate mofetil
(CellCept) and methotrexate (Trexall). Potential side effects may include an increased risk of
infection, liver damage, decreased fertility and an increased risk of cancer.

 Biologics. A different type of medication, belimumab (Benlysta) administered intravenously,

also reduces lupus symptoms in some people. Side effects include nausea, diarrhea and
infections. Rarely, worsening of depression can occur.

 Rituximab (Rituxan) can be beneficial in cases of resistant lupus. Side effects include
allergic reaction to the intravenous infusion and infections.

10.Patient education

It is also important to maintain visits with your primary care provider for an annual physical as well
as other routine checks for health problems. Depending on your situation, these may include bone
density screening; screening for hyperlipidemia, hypertension, and diabetes; and/or screening for
women's health issues such as cervical and breast cancer.

Lifestyle changes and preventive interventions — There are a number of things you can do to
help manage your disease.

Sun protection — Since exposure to ultraviolet (UV) light can cause or worsen lupus symptoms,
it's important to protect yourself from the sun. This includes wearing sunscreen and avoiding direct
sun exposure when possible.

Diet and nutrition — Most people with lupus do not require a special diet but should instead eat a
well-balanced diet. A well-balanced diet is one that is low in fat; high in fruits, vegetables, and
whole grains; and contains a moderate amount of meat, poultry, and fish.

However, you may need to make changes to your diet depending upon how lupus has affected your
body. Your health care provider can talk to you about your situation and whether you should modify
your diet; do not make any drastic changes without speaking with your provider first.
Exercise — It can be challenging to exercise when your lupus causes fatigue and other symptoms
(such as breathing problems). But being inactive can cause you to lose muscle strength, which can
make you feel worse in the long term. Even small amounts of gentle movement can be beneficial for
your health. Advice about how to incorporate exercise into your life is available separately.

Avoiding smoking — Cigarette smoking has been associated with symptom flares in people with
lupus, and has many other negative health effects. Quitting smoking is difficult, but your health care
provider can help.

Vaccines — Vaccines to prevent pneumonia and the flu are recommended for people with lupus.
Some people should also get the shingles vaccine.

By contrast, vaccines that contain live viruses (eg, measles, mumps, rubella, polio, varicella, and
smallpox) are not recommended for people with lupus, especially those taking immunosuppressive
therapies such as prednisone.

Medications to avoid — Certain medications are known to worsen lupus. One example is

sulfonamide ("sulfa") containing antibiotics. You should not take these medications if there is an
acceptable alternative. Make sure any health care provider who treats you for anything is aware that
you have lupus.