2/23/18. Disclosures. Rheumatic Diseases of Childhood. Making Room for Rheumatology. I have nothing to disclose. James J.
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1 Making Room for Rheumatology James J. Nocton, MD Disclosures I have nothing to disclose Rheumatic Diseases of Childhood Juvenile Idiopathic Arthritis (JIA) Systemic Lupus Erythematosus (SLE) Juvenile Dermatomyositis (JDMS) Vasculitis (several diseases) Scleroderma (Linear, systemic sclerosis, CREST) Autoinflammatory diseases (periodic fever syndromes) Other systemic inflammatory diseases (Behcet s disease, Sarcoidosis, Sjogren s syndrome, Acute rheumatic fever, reactive arthritis) 1
2 When might you suspect JIA? History of joint pain/discomfort JIA is associated with daily stiffness in the morning or after inactivity (e.g. naps) JIA is associated with swelling and often warmth JIA is associated with specific functional disability Note: Isolated back/spine pain usually something else (muscular, spondylolysis, stress/tension) Isolated hip or shoulder pain usually something else (mechanical, overuse) Physical Examination! Swelling Or Limited range of motion of the joint with: pain, tenderness, or warmth Arthritis History and examination are consistent with arthritis Pain is acute and severe You are more likely to need an orthopedic surgeon, oncologist, or infectious disease specialist Subjective pain with no objective findings other than subjective tenderness Critical: explore mood, psychosocial stressors; you are more likely to need a psychologist or a Pain Clinic There is hypermobility on examination without arthritis Note: Laboratory tests will not diagnose arthritis in the absence of arthritis on examination 2
3 2/23/18 When might you suspect SLE? History: Intermittent fevers, fatigue Chronic, fixed rashes Arthritis (symmetric small joints and large joints) Alopecia, ulcers on hard palate, history of rashes with sun exposure Evidence of organ inflammation: Kidneys: periorbital or peripheral edema Pericardial or pleural effusions Mild hepatitis, CNS disease (psychosis or seizures) Physical Examination! Laboratory tests: Cytopenias, proteinuria, ANA elevated Note: ANA is 100% sensitive for SLE There is history and physical findings suggestive Preliminary lab testing is consistent Patient does not seem to have an infectious disease or malignancy Symptoms are subjective and examination is normal ANA is negative When might you suspect Juvenile Dermatomyositis (JDMS)? History: Characteristic rashes Heliotrope Gottron s sign Periungual capillary changes Muscle weakness Difficulty rising from floor, climbing stairs, decrease in overall activity Physical Examination! Check for Gower sign and perform manual muscle strength testing Laboratory tests: CK, Aldolase, AST, ALT, LDH usually elevated 3
4 2/23/18 Juvenile Dermatomyositis (JDMS) There are rashes consistent with JDMS There is fatigue alone without objective weakness and rash Consider post-viral fatigue, thyroid disease, and explore mood and psychosocial stressors There is isolated weakness without rash More likely to be dystrophy, metabolic myopathy, or other neuromuscular disease Note: CK and other muscle enzymes can be elevated with exercise as well as post-infectious When might you suspect a systemic vasculitis? There are chronic constitutional symptoms (fever, weight loss, fatigue) There is a characteristic pattern of multi-system chronic inflammation ANCA-associated vasculitides are pulmonary-renal syndromes Takayasu s arteritis associated with symptoms of ischemia, possibly diminished peripheral pulses Polyarteritis nodosa is associated with abdominal pain, hypertension, cutaneous, muscle, nerve, joint involvement There is palpable purpura Laboratory: chronically elevated ESR, evidence of organ dysfunction 4
5 2/23/18 There is evidence of chronic multisystem disease as may be seen with systemic vasculitis There is palpable purpura (or at least not right away) Illness is acute and/or pattern is suggestive of infectious illness (e.g. high persistent fever) When might you suspect Scleroderma? History Systemic sclerosis characteristically starts with Raynaud s phenomenon Tight, thickened skin appears on hands and face Spread beyond hands and face is variable Linear scleroderma more common in children Slowly progressive thickening of a band of skin and subcutaneous tissue on a limb or on the face Physical Examination! Scleroderma 5
6 Cutaneous findings consistent with scleroderma Isolated Raynaud s phenomenon with no other symptoms or signs Note: This does not require any further evaluation When might you suspect an autoinflammatory syndrome? History Periods of fever lasting several days to 1 week occurring at intervals of once every several weeks to once every few months Consistent pattern of symptoms and signs associated with fevers: Rash Arthritis Abdominal pain Conjunctivitis Pharyngitis, adenopathy, oral ulcers No signs or symptoms suggesting infection Physical Examination! (during fever) Fevers are periodic Symptoms and signs are consistent and predictable There is family history of similar fevers Fevers are sporadic Episodes are consistent with infections Symptoms are variable 6
7 Other Systemic, Chronic Inflammatory Diseases Behcet s disease Recurrent oral and genital ulcers Anterior uveitis Rashes, arthritis, hypercoagulability, inflammatory bowel disease, CNS disease Sarcoidosis Young children: arthritis, E. nodosum, uveitis Older: hilar adenopathy, lung disease Sjogren s syndrome Recurrent parotid gland swelling Dry eyes, dry mouth Arthritis, renal disease What About Laboratory Tests? ANA Only send as a screen for SLE; Not a test for arthritis or autoimmune disease ~100% sensitive for pediatric SLE NON-SPECIFIC: up to 25% of healthy individuals may have an elevated ANA Not sensitive or specific enough to be helpful for any other rheumatic disease If ANA is elevated, then send anti-dsdna, anti-smith, C3 and C4, Urinalysis for proteinuria What About Laboratory Tests? RF Not a test for arthritis May be positive in some healthy individuals or in other immune complex diseases (e.g. infections) Only 5% of JIA is RF+, usually teens with polyarthritis Only helpful to classify patients known to have polyarthritis based on examination ASO or Anti-DNAse B: Only send if you have diagnosed patient with acute rheumatic fever clinically HLA B27: Not a diagnostic test; 7-10% of population is positive and only 2% of those positive will develop ankylosing spondylitis 7
8 When to Make Room for the Rheumatologist Anytime you want (Clinic) (Office) 8
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