Lupus 101

1. Lupus 101 Rachel Kaiser MD MPH Arthritis & Rheumatism Associates Lupus Foundation Summit Johns Hopkins University September 13, 2014

2. Lupus 101 • What is lupus? • Why is lupus hard to diagnose? • What causes lupus? • Who gets lupus? • Is there a test for lupus? • How is lupus treated? • What causes flares?

3. What is lupus? • Autoimmune disease • Self vs. non-self • Immune system attacks various organs in the body • Chronic • Systemic • Affects many organ systems (e.g. kidney, skin)

4. Lupus: a Difficult Diagnosis • Symptoms • Develop slowly • Vague (e.g. fatigue, rash) • Other potential causes (e.g. thyroid disease, infection) • Two lupus patients can have very different symptoms • Determining which symptoms and lab tests add up to a diagnosis of lupus can be difficult

5. Lupus symptoms • Fatigue • Joint pain/swelling >90% • Rashes (worse in the sun) >80% • Ulcers in the mouth/nose • Hair loss • Chest pain worse w/ breathing • Kidney, brain involvement • Raynaud’s (fingers changing color/numbness in cold)

6. Rashes • Malar, photosensitivity

7. Rashes - discoid

8. Rashes – Subacute Cutaneous Lupus (SCLE)

9. Hair loss, mouth ulcers

10. Arthritis

11. Raynaud’s

12. Inflammation around heart, lungs

13. Kidney – “nephritis” • Several different types of kidney involvement • Certain types require different treatments • A kidney biopsy will help us know what kind you have • Symptoms • Sudden onset of swollen legs, sometimes in the setting of flaring lupus (e.g. rash, increased fatigue) • Protein/blood can be detected in a routine urine sample

14. Neuropsychiatric • Seizures • Acute confusion/psychosis • Stroke • Movement disorder • Cognitive dysfunction (brain fog, memory issues) • Myelitis

15. Gastrointestinal • Hepatitis (liver inflammation) • Peritoneal inflammation • Pancreatitis (often from medications)

16. SLE subtypes • Systemic • Cutaneous (skin only) • Drug-induced • Older blood pressure medications (e.g. hydralazine) • TNF inhibitors • Drugs for acne (e.g. minocycline) • Neonatal

17. Diseases associated with SLE • Antiphospholipidantibody syndrome (APS) • Miscarriages, blood clots • Sjögren’sSyndrome • Dry eyes, mouth • Thyroid disease • Fibromyalgia • Diffuse pain, sleep disorder, exhaustion

18. What causes it? • Immune system • Genetics: >50 genes identified + • Environment (e.g. viruses, drug-induced)

19. Who gets lupus? • Women of childbearing age • Ages 15-45 (mean 31) • More women than men: 10-15:1 • Can affect both men and women of any age • Differs by ethnicity • More common and severe among Asians, African Americans and Hispanics than Caucasians • Family members of lupus patients • Siblings 2-5% • Monozygotic (identical) twins 24%

20. Diagnosing Lupus • Rheumatologists make a diagnosis of lupus by: • Carefully listening to your history • Examining you • Ordering/reviewing lab tests • Excluding other causes of your symptoms and lab tests

21. Is there a test for lupus? • No one lab test to diagnose lupus • +ANA (anti-nuclear antibody) – blood test • Lupus is characterized by the production of antibodies against the self • Other causes of a +ANA • Chronic infections • Other autoimmune diseases. • Up to 20% of healthy young women

22. Diagnosing Lupus • If your history and exam suggest lupus, your rheumatologist will order further, more specific tests in addition to the ANA that can help make the diagnosis. • E.g. dsDNA, anti-smith • In and of themselves, these tests are still insufficient to establish a definitive diagnosis (because they are neither perfectly specific for lupus nor do they identify every lupus case).

23. Classification criteria for Lupus4 or more (at least one clinical and one immunologic) • Clinical • Rash • Mouth/nose ulcers • Nonscarring hair loss • Swollen joints • Inflammation around heart or lungs • Kidney involvement • Neurologic involvement • Hemolytic anemia (low blood count) • Leukopenia (low white count, these cells respond to infections) • Thrombocytopenia (low platelets – these cells clot the blood) • Immunologic • ANA • Low complements (C3,C4) • dsDNA, anti-smith, anti-phospholipid antibodies, direct Coombs

24. Goals of lupus treatment • Make you feel better • Prevent long term complications • Organ damage (e.g. kidneys) • Mortality • Disability (e.g. job loss, stay in school) • Minimize potential side effects from medications

25. What causes a flare of lupus? • UV light exposure • Wear sunscreen, hat • Infection • Obtain appropriate vaccinations (e.g. yearly flu shot) • Surgeries • Plan medications appropriately around elective procedures • Stress • Adequate rest, stress reduction • Smoking • Need to quit

26. Treatments – All Lupus • Daily oral medicine called hydroxychloroquine • Helps hand pain, rashes • Helps prevent flares • Improves survival • May help prevent blood clots • Prevents nephritis flares • Improves pregnancy outcomes

27. Treatments – Moderate to Severe • Prednisone • Mycophenolatemofetil • Azathioprine • Cyclophosphamide • Belimumab

28. Steroids (e.g. prednisone) • Pros: work quickly for acute issues/flares • Cons: side effects if long-term use • Weight gain • Osteoporosis • Avascular necrosis • Diabetes • Cataracts, glaucoma • Pancreatitis • Infections • Poor wound healing • Salt, water retention • Psychiatric symptoms

29. Routine medical care • Monitor for development of new symptoms • Health maintenance • Cholesterol • Blood pressure • Gynecologic care (e.g. safe contraception) • Vaccinations • Bone health • Screening for side effects of medications • Lab tests • Prevent flares • Counseling on wearing sunscreen

30. Why do I need a primary care doctor? • Increased risk of early cardiovascular disease • Cholesterol • Blood pressure monitoring • Vaccinations • Coordination of care between specialists

31. Obstetrics and Gynecology in lupus • Birth control options may be limited • Patients with anti-phosphospholipid antibodies or the syndrome itself may not use estrogen-containing birth control • PAP smears – yearly • Increased risk of cervical dysplasia • Pregnancy • Symptoms need to be quiescent and controlled for a prolonged period before trying to conceive • Toxic medications need to be held if possible or changed to medications that may be safer in pregnancy • Pre-conception counseling

32. Other Specialists • Pulmonology - lungs • Nephrology - kidney • Hematology -blood • Dermatology - skin • Ophthalmology - eyes • Neurology – brain/nerves • Gastroenterology - gut

33. Prognosis better than ever • Earlier diagnosis • Better awareness • Improved lab tests • Better treatments that help minimize long-term steroid exposure • Mortality: • Early deaths: active SLE +/- infections • Late deaths: cardiovascular disease • Five year survival increased • ~40% 1950 • >90% after 1980

34. Be your own advocate • Tempting for patients (and their doctors) to attribute all new symptoms to lupus • Take new symptoms seriously • Fever is rarely a symptom of lupus flarerule out infection • Know your medications • Current • Past • Side effects/allergies/intolerances • Keep copies of your own records (lab tests, xrays, echocardiograms/heart tests, skin biopsies, kidney biopsies, notes from prior rheumatologists)

35. Thank you! Arthritis and Rheumatism Associates