Insights into the DX of Pediatric SLE

Transcription

1 Insights into the DX of Pediatric SLE Dr. John H. Yost Pediatric Rheumatology Children s Hospital at Dartmouth Assistant Professor of Medicine Geisel School of Medicine at Dartmouth john.h.yost@hitchcock.org

2 A DIAGNSOSIS of SLE is RARELY OBVIOUS

3 Pediatric Systemic Lupus Erythematosus (SLE) INTRODUCTION More to Come!

4 Diseases Resembling SLE RHEUMATOLOGIC JIA (JRA systemic)** MCTD** Psoriatic arthritis** Sjogren s Syndrome** Polymyalagia rheumatica Polymyositis Juvenile Dermatomyositis** Overlap Syndrome ** Vasculitis/Kawasaki s ** Fibromyalgia** NEOPLASTIC and OTHER Myeloma Neuroblastoma** Lymphoma** Infections** Reactive arthritis** Lyme disease** Autoimmune thyroid** Autoimmune neurologic (MS,MG) disease ** PEDIATRIC DISEASE

5 Common Conditions Co-Existing with SLE Fibromyalgia Hypothyroidism Osteoarthritis Bursitis LUPUS Anemia Infection Tendonitis Migraine Cardiovascular Disease

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7 EVOLUTION of COLLAGEN VASCULAR DISEASES over TIME RA LUPUS Overlap: RHUPUS LUPUS RA Transformation

8 MCTD: Mixed Connective Tissues Disease A Lupus-Like Disease with (+) Anti-RNP Antibody

9 SLE: Systemic Lupus Erythematosis Grey wolf The great masquerader The angry bite Canis lupus

10 Historical Descriptions of Lupus 14 th century skin lupus 16 th century - "Leprosy is more clearly recognized in the nose, where it shows well-defined symptoms. Sometimes it is also called wolf because it can contaminate all of a man's limbs as does cancerous lupus 1808 lupus vulgaris TB 1878 Kaposi discoid and disseminated lupus Osler - 29 patients who presented "erythema with visceral injuries". From "Diseases of the skin. An Outline of the principles and practice of Dermatology Malcolm Morris, Cassel & Co., London, 1894

11 SLE -- EPIDEMIOLOGY Prevalence: 1 in 2000 Americans Peak incidence: 15 to 40 years 8:1 female:male ratio Increased incidence: African-Americans, Hispanics, Native Americans Greater frequency in urban areas

12 FREQUENCY OF SLE CLINICAL MANIFESTATIONS Fatigue % Cutaneous Arthritis >90% Butterfly Rash >50% Arthralgia >90% Photosensitivity >50% Renal Oral ulceration 30% Nephrosis 18% Alopecia 70% Nephritis 30% Raynaud s 30% Pulmonary Purpura 15% Pleurisy 40% Urticaria 8% Effusion 25% Cardiac CNS Pericarditis 40% Functional 90% Myocarditis 5% Psychosis 20-30% Seizures 15%

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16 ACR Classification Criteria of SLE S erostis O ral ulcers A rthritis P hotosensitivity B lood (heme) R enal A NA I mmune tests N eurologic disorder M alar rash D iscoid rash

17 DIAGNOSIS of SLE Definite Lupus Probable Lupus Possible Lupus Overlap or Undifferentiated CTD

18 SOAPBRAIN MD SCLE : Subacute Cutnaeous Lupus Malar Rash

19 SCLE : Subacute Cutnaeous Lupus

20 SOAPBRAIN MD DLE: Discoid Lupus Erythematosis

21 MALAR (butterfly) RASH Seborrhea

22 SLE Interphalyngeal Dermatitis

23 DDx- dorsal joint Dermatitis in JDM

24 Lupus Vasculitic Lesions

25 SOAPBRAIN MD Oral Ulceration Photosensitivity

26 SOAPBRAIN MD Lupus - arthritis Inflammatory Low-grade swelling Non-erosive Symptoms out of proportion to exam Sometimes deformining Rare: Jacoud s Arthropathy

27 SOAPBRAIN MD SLE - Serositis Pleuritis/Pericarditis Libmann-Sachs Endocarditis Pneumonitis

28 SLE - Renal 1. Normal (by light micro but deposits on IF or EM). 2. Mesangial GN 3. Focal GN 4. Diffuse membranous GN 5. Diffuse proliferative GN >>>>>> 6. Advanced sclerosing GN RBC casts, Proteinuria > SOAPBRAIN MD

29 SLE: Neurologic-Psych Seizures Psychosis Cognitive dysfunction Depression Stroke Transverse myelitis Cerebritis Aseptic meningitis Peripheral neuropathy MS/ lupoid sclerosis Myesthenia gravis SOAPBRAIN MD

30 20 yr-old female with 4-year Hx of mild SLE complicated by Longitudinal Myelitis

31 SOAPBRAIN MD ANA Immunologic Tests Rim & Homogeneous >>> dsdna Ab Speckled pattern >>> >> ENA pannel anti Sm anti Ro anti - La anti - RNP

32 ANA Testing in the General Population False (+) or clinically insignificant ANA occurs in % of healthy individuals

33 Anti-Nuclear Antibodies SOAPBRAIN MD TITER PATTERNS

34 Autoantibody-disease associations: SLE and drug-induced lupus Antigen SLE Drug-Induced LE dsdna 40% No ssdna 70% 75%-80% Histone 70% >95% Sm antigen 30% No Nuclear RNP 30% No Ribosomal RNP 10% SS-A/Ro 35% No SS-B/La 15% No Copyright American College of Rheumatology Slide Collection. All rights reserved.

35 The Utility of ANA Testing depends on the Pre-Test Probability of Disease

36 SLE Immunologic Tests SOAPBRAIN MD LE Cell Low C3 and/or C4 C2 deficiency (males)

37 MCTD: Mixed Connective Tissues Disease A Lupus-Like Disease with (+) Anti-RNP Antibody

38 Anti-Phospholipid Antibodies syndrome AP is present if more than 1 clinical and 1 lab criteria met.ar thrombosis Clinical Criteria 1 arterial, venous, or small-vessel thrombosis and/or Pregnancy morbidity > 1 fetal death > 10th week gestation or > 1 premature birth > 34th week with preeclampsia or placental insufficiency or > 3 consecutive spontaneous abortions < 10th week gestation Laboratory criteria Anticardiolipin antibody IgG or IgM present medium or high titers > 2 times at least 6 weeks apart or Lupus anticoagulant present > 2 times at least 6 weeks apart False (+) VDRL Thrombocytopenia Copyright American College of Rheumatology Slide Collection. All rights reserved.

39 SLE Blood SOAPBRAIN MD Hemolytic Anemia Leukopenia Immune Thrombocytopenia

40 Pathogenesis disruption in apoptosis programmed cell death

41 NSAIDs

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