How do we diagnose lupus?


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A presentation by Mariko Ishimori, MD from Lupus LA's 4th Annual Patient Education Conference at Cedars-Sinai Medical Center in Los Angeles, CA.

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How do we diagnose lupus?

  1. 1. How do we diagnose lupus? Mariko Ishimori, MD Division of Rheumatology Cedars-Sinai Medical Center Assistant Clinical Professor of Medicine, UCLA
  2. 2. Topics of Discussion <ul><li>Types of lupus </li></ul><ul><li>Challenges of making the diagnosis </li></ul><ul><li>Elements of diagnosis </li></ul><ul><li>Specific features and criteria </li></ul>
  3. 3. What is lupus? <ul><li>Common name for a disorder known more formally as Lupus Erythematosus </li></ul><ul><li>A disorder that predominantly affects women, particularly in their child-bearing years, but may be diagnosed in all age groups </li></ul>
  4. 4. What is lupus? Not a simple disease with easy answers
  5. 5. Types of Lupus <ul><li>70% = Systemic lupus erythematosus (SLE) </li></ul><ul><li>10% = Cutaneous lupus erythematosus (includes Discoid lupus erythematosus) </li></ul><ul><li>10% = Drug-induced lupus erythematosus </li></ul><ul><li>10% = Other overlap syndrome or mixed connective tissue disease (MCTD) </li></ul>
  6. 6. Why is it so difficult to diagnose? <ul><li>Many lupus patients look healthy from the outside </li></ul><ul><li>Initial symptoms may be non-specific (fatigue, achiness, stiffness, low grade-temps, swollen lymph nodes, rashes) </li></ul><ul><li>Symptoms may develop slowly over months or years or may develop suddenly </li></ul>
  7. 7. <ul><li>A wide variety of symptoms and organ involvement may be present </li></ul>
  8. 8. Why is it so difficult to diagnose? <ul><li>No single laboratory test establishes the diagnosis </li></ul><ul><li>Course of disease characterized by remissions and exacerbations </li></ul><ul><li>Shortage of trained rheumatologists and limited exposure to field </li></ul>
  9. 9. Why is it so difficult to diagnose? <ul><li>Misunderstanding by other physicians as to how to diagnose lupus </li></ul><ul><li>Symptoms may be attributed to “stress” or “a virus” or “emotional problems” </li></ul><ul><li>Female-predominant diseases have historically have been understudied by academic medicine </li></ul>
  10. 10. Lupus: the “great imitator” <ul><li>Even with medical attention, it may take a while to be diagnosed </li></ul><ul><li>Lupus can look like different diseases </li></ul><ul><li>Some diseases it can be mistaken for include infections and cancer </li></ul>
  11. 11. What do we do to diagnose lupus? <ul><li>Medical history : You will tell your doctor about your symptoms and your doctor will also ask a lot of questions regarding symptoms and other problems </li></ul>
  12. 12. What do we do to diagnose lupus? <ul><li>Complete physical exam : Your doctor will look for rashes, oral ulcers, hair loss, evidence of arthritis, listen to your heart and lungs, and other signs that something is wrong </li></ul>
  13. 13. What do we do to diagnose lupus? <ul><li>Laboratory testing of blood & urine : Blood and urine test may show if your immune system is overactive. </li></ul><ul><li>Common tests include blood counts, urinalysis, creatinine and electrolytes, liver function tests, ESR, CRP, blood clotting tests, serologic or immunologic testing </li></ul>
  14. 14. What do we do to diagnose lupus? <ul><li>Skin or kidney biopsy : In certain patients, a minor surgical procedure is performed to remove a small sample of tissue. Tissue examined under the microscope can show signs of lupus </li></ul>
  15. 15. Systemic Lupus Erythematosus <ul><li>Multi-system disorder caused by tissue damage from antibody and immune complexes </li></ul><ul><li>American College of Rheumatology (ACR) devised criteria for SLE in 1971 </li></ul><ul><li>Out of eleven criteria, at least 4 must be present to meet the classification of SLE under this definition </li></ul><ul><li>Includes 4 skin criteria, 4 organ criteria, 3 laboratory-based criteria </li></ul>
  16. 16. ACR Criteria for SLE <ul><li>1. Photosensitivity (sun sensitivity) </li></ul><ul><li>2. Oral ulcers (mouth sores) </li></ul><ul><li>3. Malar rash (butterfly rash) </li></ul><ul><li>4. Discoid rash </li></ul>
  17. 17. ACR Criteria for SLE <ul><li>Arthritis </li></ul><ul><li>Serositis (inflammation of lung or heart lining) </li></ul><ul><li>Kidney disorder (abnormal sediment or protein in urine) </li></ul><ul><li>Neurologic disorder (seizures, psychosis without explanation) </li></ul><ul><li>Blood abnormalities (hemolytic anemia, low white cell count, low platelet count) </li></ul><ul><li>Immunologic disorder (anti-phospholipid antibody, lupus anticoagulant, anti-DNA, anti Smith, false positive syphilis test) </li></ul>
  18. 18. ACR Criteria for SLE <ul><li>11. Positive anti-nuclear antibody (ANA) blood test </li></ul><ul><ul><li>ANA test is important as a screening tool and a diagnostic tool </li></ul></ul><ul><ul><li>A positive ANA does NOT automatically mean a patient has lupus </li></ul></ul><ul><ul><li>Can be positive in many healthy people, especially young women and in other conditions (recent infection, other autoimmune diseases) </li></ul></ul>
  19. 19. Other symptoms <ul><li>Fatigue </li></ul><ul><li>Low-grade fevers </li></ul><ul><li>Achiness </li></ul><ul><li>Swollen lymph nodes </li></ul><ul><li>Pain on taking a deep breath </li></ul><ul><li>Raynaud’s phenomenon </li></ul><ul><li>Alopecia (loss of scalp hair) </li></ul><ul><li>Headaches </li></ul><ul><li>Cognitive difficulties (brain fog) </li></ul>
  20. 20. Cutaneous lupus erythematosus <ul><li>3 broad categories </li></ul><ul><ul><li>Acute cutaneous lupus erythematosus </li></ul></ul><ul><ul><li>Subacute cutaneous lupus erythematosus </li></ul></ul><ul><ul><li>Chronic cutaneous lupus erythematosus </li></ul></ul>
  21. 21. Acute Cutaneous LE <ul><li>May present with localized or generalized rash </li></ul><ul><li>Most common manifestations are malar (butterfly) rash and photosensitivity </li></ul><ul><li>Facial swelling may be severe in some patients </li></ul><ul><li>Symptoms may be short-lived (days to weeks) </li></ul><ul><li>Lesions do not result in scarring </li></ul>
  22. 22. Subacute Cutaneous LE <ul><li>Primarily a disease a Caucasian females </li></ul><ul><li>Highly sensitive to sunlight and UV exposure </li></ul><ul><li>Non-scarring lesions which have a typical biopsy appearance </li></ul><ul><li>Associated with circulating antibodies to anti-Ro </li></ul>
  23. 23. Chronic Cutaneous LE <ul><li>The most classic form is Discoid LE </li></ul><ul><li>Often begin as reddish plaques, with scaling that may become thick and adherent, with a lighter central area. </li></ul><ul><li>Scarring with central atrophy may occur </li></ul>
  24. 24. Drug-induced Lupus (DIL) <ul><li>Refers to a condition where patients receiving therapy with a known lupus inducing drug for at least 1 month (usually months to years) and develop: </li></ul><ul><ul><li>Autoantibodies or laboratory features of autoimmunity </li></ul></ul><ul><ul><li>Clinical signs and symptoms associated with SLE </li></ul></ul><ul><li>Features include: joint and muscle aches, rash, fever, serositis, splenomegaly, ANA, anti-histone antibodies </li></ul>
  25. 25. Drug-induced lupus <ul><li>Currently, 41 drugs have been associated with DIL </li></ul><ul><li>Important to remember that not all patients who take these drugs will get DIL </li></ul><ul><li>Highest risk drugs include procainamide (20% incidence) and hydralazine (5-8%incidence) during 1 year of therapy </li></ul>
  26. 26. Drugs implicated in DLE <ul><li>Procainamide (Pronestyl) </li></ul><ul><li>Hydralazine (Apresoline) </li></ul><ul><li>Quinidine (Quinaglute) </li></ul><ul><li>Methyldopa (Aldomet) </li></ul><ul><li>Captopril (Capoten) </li></ul><ul><li>Chlorpromazine (Thorazine) </li></ul><ul><li>Acebutol (Sectral) </li></ul><ul><li>Phenytoin (Dilantin) </li></ul><ul><li>Carbamazepine (Tegretol) </li></ul><ul><li>Isoniazid/INH </li></ul><ul><li>Minocycline (Minocin) </li></ul><ul><li>D-penicilliamine (Cuprimine) </li></ul><ul><li>Propylthoiuracil (propyl-thyracil) </li></ul>
  27. 27. Drug-induced lupus <ul><li>Discontinuation of therapy with the offending drug usually results in prompt resolution of symptoms within days to weeks </li></ul><ul><li>Eventually autoantibodies induced by the drug may decrease and/or resolve over time (months to years) </li></ul><ul><li>Re-challenge with the drug will likely result in recurrence of DIL </li></ul>
  28. 28. Diagnosis of Lupus <ul><li>Remember: Every lupus patient reacts differently </li></ul><ul><li>Two patients with a diagnosis of lupus may have very different manifestations! </li></ul>
  29. 29. Thank you!