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

Lupus 101Rachel Kaiser MD MPH

Arthritis & Rheumatism AssociatesLupus Foundation Summit

Johns Hopkins UniversitySeptember 13, 2014

Lupus 101What 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?

What is lupus?Autoimmune disease

Self vs. non-selfImmune system attacks various organs in the

bodyChronicSystemic

Affects many organ systems (e.g. kidney, skin)

Lupus: a Difficult DiagnosisSymptoms

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

Lupus symptoms

FatigueJoint pain/swelling >90%Rashes (worse in the sun) >80%Ulcers in the mouth/noseHair lossChest pain worse w/ breathingKidney, brain involvementRaynaud’s (fingers changing color/numbness

in cold)

RashesMalar, photosensitivity

Rashes - discoid

Rashes – Subacute Cutaneous Lupus (SCLE)

Hair loss, mouth ulcers

Arthritis

Raynaud’s

Inflammation around heart, lungs

Kidney – “nephritis”Several different types of kidney involvementCertain types require different treatmentsA kidney biopsy will help us know what kind

you haveSymptoms

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

Neuropsychiatric SeizuresAcute confusion/psychosisStrokeMovement disorderCognitive dysfunction (brain fog, memory

issues)Myelitis

GastrointestinalHepatitis (liver inflammation)Peritoneal inflammationPancreatitis (often from medications)

SLE subtypesSystemicCutaneous (skin only)Drug-induced

Older blood pressure medications (e.g. hydralazine)

TNF inhibitors Drugs for acne (e.g. minocycline)

Neonatal

Diseases associated with SLEAntiphospholipid antibody syndrome (APS)

Miscarriages, blood clotsSjögren’s Syndrome

Dry eyes, mouthThyroid diseaseFibromyalgia

Diffuse pain, sleep disorder, exhaustion

What causes it?Immune system

Genetics: >50 genes identified +Environment (e.g. viruses, drug-induced)

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 ageDiffers 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%

Diagnosing LupusRheumatologists make a diagnosis of lupus

by: Carefully listening to your historyExamining youOrdering/reviewing lab testsExcluding other causes of your symptoms and

lab tests

Is there a test for lupus?No one lab test to diagnose lupus

+ANA (anti-nuclear antibody) – blood testLupus is characterized by the production of

antibodies against the selfOther causes of a +ANA

Chronic infections Other autoimmune diseases. Up to 20% of healthy young women

Diagnosing LupusIf 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).

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

Goals of lupus treatmentMake you feel betterPrevent long term complications

Organ damage (e.g. kidneys)MortalityDisability (e.g. job loss, stay in school)

Minimize potential side effects from medications

What causes a flare of lupus?UV light exposure

Wear sunscreen, hatInfection

Obtain appropriate vaccinations (e.g. yearly flu shot)Surgeries

Plan medications appropriately around elective procedures

Stress Adequate rest, stress reduction

Smoking Need to quit

Treatments – All Lupus

Daily oral medicine called hydroxychloroquine Helps hand pain, rashesHelps prevent flares Improves survivalMay help prevent blood clotsPrevents nephritis flaresImproves pregnancy outcomes

Treatments – Moderate to Severe

PrednisoneMycophenolate mofetil AzathioprineCyclophosphamide Belimumab

Steroids (e.g. prednisone)Pros: work quickly for acute issues/flares

Cons: side effects if long-term useWeight gainOsteoporosisAvascular necrosis DiabetesCataracts, glaucomaPancreatitisInfectionsPoor wound healingSalt, water retentionPsychiatric symptoms

Routine medical care Monitor for development of new symptoms Health maintenance

CholesterolBlood pressureGynecologic care (e.g. safe contraception)VaccinationsBone health

Screening for side effects of medicationsLab tests

Prevent flares Counseling on wearing sunscreen

Why do I need a primary care doctor?Increased risk of early cardiovascular disease

CholesterolBlood pressure monitoring

VaccinationsCoordination of care between specialists

Obstetrics and Gynecology in lupusBirth control options may be limited

Patients with anti-phosphospholipid antibodies or the syndrome itself may not use estrogen-containing birth control

PAP smears – yearlyIncreased risk of cervical dysplasia

Pregnancy Symptoms need to be quiescent and controlled for a

prolonged period before trying to conceiveToxic medications need to be held if possible or

changed to medications that may be safer in pregnancyPre-conception counseling

Other SpecialistsPulmonology - lungsNephrology - kidneyHematology -bloodDermatology - skinOphthalmology - eyesNeurology – brain/nervesGastroenterology - gut

Prognosis better than everEarlier diagnosisBetter awarenessImproved lab testsBetter treatments that help minimize long-term

steroid exposureMortality:

Early deaths: active SLE +/- infectionsLate deaths: cardiovascular disease

Five year survival increased~40% 1950>90% after 1980

Be your own advocateTempting for patients (and their doctors) to

attribute all new symptoms to lupus Take new symptoms seriously Fever is rarely a symptom of lupus flarerule out

infectionKnow 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)

Thank you!

Arthritis and Rheumatism Associates