Case Presentation

Kaitlyn BrownTraining 2010

Genevieve is a twenty-three year old African American student at University of Toronto.

She visits her family physician because she has been experiencing the following symptoms for the past 3-4 days:◦ Chest pain◦ Headache◦ Mood swings◦ Polymyalgia and pain in joints (wrists and knees)◦ Extreme fatigue◦ General malaise

Presentation to Family Physician

Genevieve has visited walk-in clinics a couple times in the past year with complaints of headaches, myalgia, joint pain, and fatigue.◦ No infections or signs of disease were found in routine physical◦ Doctors recommended maintaining a healthy lifestyle and taking

NSAIDs for pain.◦ Following advice of one physician, Genevieve began recording

information about symptom onset, duration, and nature to show her family doctor.

She observed the following:◦ Photosensitivity resulting in frequent sunburns on face and shoulders◦ Symptoms experienced every 1-2 months for about 1-2 weeks. In

between, she feels slightly tired and has some aches, but is otherwise normal.

◦ This is the first time she has experienced chest pain.

Medical History

Otherwise, has no history of significant illness or injury and has had no recent infections.

Maintains a healthy weight, follows guidelines for healthy eating, and enjoys playing tennis in spare time.

Non-smoker and moderate drinker

Not taking any medications (with exception of occasional OTC painkillers) or oral contraceptives

Medical History (Continued)

Completing her Masters degree in linguistics at University of Toronto and is living with two friends in an apartment

She has been in a monogamous relationship for one year.

Has had significant sources of stress throughout university years: abusive ex-boyfriend and death of close friend, in addition to typical student anxieties

Grew up in suburbia and is the eldest of four healthy children

Family medical history is unremarkable – all parents and grandparents are still living and in good health

Personal History

Temperature: 100.1° F

Heart rate: 82 beats per minute

Blood Pressure: 112/70 mmHg

Rate of Respiration: 20 breaths/minute

Physical Examination: Vital Signs

Two painless oral ulcers found on wall of left cheek

Chest pain became worse when breathing deeply or lying down; improved when leaning forward

On auscultation of chest, physician heard a friction rub.

Joint stiffness and slight swelling noted in wrists and knees - range of motion is slightly decreased

Swollen ankles and feet

Physical Examination

The physician decides to run a battery of tests, with emphasis on diagnosing a cardiac issue.◦ Electrocardiogram◦ Echocardiograph◦ Complete blood count◦ Autoantibody testing◦ Urine analysis◦ Chemistry profile◦ Thyroid panel◦ Erythrocyte sedimentation rate

The Test Battery

Results from Electrocardiogram and Echocardiograph

Echocardiograph

Normal Electrocardiograph shown above. Genevieve’s showed:

ST segment elevations (upwardly concave)Depression of PQ segment

Based on interpretation of electrocardiogram and echocardiograph, the cardiologist determines pericarditis in the patient. There is some pericardial effusion, but it is minimal.

What should be done, now that the cardiac problem is diagnosed?

Does pericarditis adequately explain all symptoms?

Cardiac Diagnosis: Pericarditis

Results from CBC, ESRComponent Genevieve’s

ResultsNormal Values for Female

Red Blood Cells 4.0 million/mm3 4.2 – 5.4 million/mm3

White Blood Cells 3,950/mm3 5,000 – 10,000/mm3

Hemoglobin 11 g/dl 12-16 g/dl

Hematocrit 36% 37-47%

Platelet Count 148,700/mm3 150,000-400,000/mm3

Mean corpuscular volume

86 um 80-95 um

Mean corpuscular hemoglobin concentration

33 g/dl 32-36 g/dl

Neutrophils 62% 55-70%

Lymphocytes 28% 20-40%

Monocytes 7% 2-8%

Eosinophils 2% 1-4%

Basophils 1% 0.5-1%

Erythrocyte Sedimentation Rate:

Normal = up to 20 mm/hr

Genevieve’s = 210 mm/hr

Chemistry Profile, Urinalysis, Thyroid Panel, and Autoantibody Tests

Results from chemistry profile, urinalysis, and thyroid panel were all within normal range.

Autoantibody Test Results

Antibody Normal Result

Genevieve’s Result

Anti-nuclear Positive or Negative

Positive

Anti-Sm Negative Positive

Anti-double stranded DNA

Negative Positive (high)

Anti-SSA Negative Negative

Anti-SSB Negative Negative

These results implicate that Genevieve’s disease falls under a certain group of disorders.

What group is this?

Based on her collective symptoms and test results as well as epidemiological data, a certain disease is highly suspect.

Diagnosis?

This rash is found below Genevieve’s neck.

A definitive diagnosis can be made.

On her next appointment...

Incurable auto-immune disease that primarily affects women. Non-Caucasian women are at significantly higher risk.

There are three types: Systemic Lupus Erythematosus, Discoid Lupus, and Drug Induced Lupus.

Cause is unknown. Studies have loosely implicated genetics, hormones, stress, and environment to disease development.

Can manifest with an extremely wide variety of symptoms in almost every system of the body (kidneys, heart, lungs, skin, nervous system, blood, joints, and muscles can all be affected).

Not everyone experiences all symptoms; every case is very different.

Michael Jackson reportedly had it!

A little bit about Lupus...

NSAIDs and/or analgesics

Anti-malarials (Hydroxychloroquine)

Immunosuppressives (chemotherapy or anti-rejection agents)

Glucocorticoids (usually Prednisone)

Avoid direct sunlight

Eat a wholesome diet – preliminary studies have shown that becoming vegetarian (with proper protein and nutrient intake) can significantly help with symptoms

Treatment

Systemic Lupus Erythematosus used to be fatal within five years

Now, the treatment for it is very effective and most people survive many years following diagnosis

In later life, other diseases may be worsened or develop in association to the lupus.

Prognosis