Other rheum diseases and auto inflammatory disease Flashcards
What lab corresponds to disease activity in adult-onset still’s disease?
Ferritin
What is a key clinical sign of relapsing polychondritis?
It spares the ear lobe (no cartilage)
DDx for saddle nose deformity?
-Relapsing polychondritis -Wegener’s granulomatosis -nasal natural killer/t-cell lymphoma -Mucocutaneous leishmaniasis -Syphilis
What is the most common autoantibody in Sjogren syndrome?
Anti-Ro/SS-A
What is the most specific antibody for Sjogrens syndrome?
Anti-fodrin
What is the pattern of the ANA in the mixed connective tissue disease?
Speckled nuclear pattern
What is Still disease?
Systemic-onset juvenile idiopathic arthritis
What percentage of juvenile idiopathic arthritis is Still disease?
20%
What other types of juvenile idiopathic arthritis exist?
RF (-) polyarthritis (5%): favors small joints (hands and feet); usually non-erosive; RF (-), ANA (-) RF (+) polyarthritis (15%): Favors small joints (hands and feet); usually erosive; shares features of adult RA🡪 rheumatoid nodules, RF (+) in 100%, usually ANA (+) Oligo/pauciarticular arthritis (60%): MC form of JIA; favors knees; subdivided into two types Type 1 (MC subtype), onset =1-8yo; uveitis in 50%; ANA (+), RF (-) Type 2, onset 9-16yo; strongly a/w HLA-B27; RF (-), ANA (-) Other rare forms: Enthesitis-related arthritis (A/w HLA-B27), PsA (ANA-negative, a/w anterior uveitis)
What is the age range for Still disease?
= 16 y/o, mean age is 6 y/o
Pathogensis of Still disease?
Autoinflammatory syndrome (disorder of innate immune system) Activation of innate immune system 🡪 increased IL-1 production by the inflammasome 🡪 downstream effects Up to 3x increased risk of JIA in kids exposed to multiple courses of antibiotics
What is the diagnostic criteria for Still disease/ systemic-onset juvenile idiopathic arthritis?
-High episodic fevers (>38.9 C) daily for >/= 2 weeks and documented to be quotidian (daily) for more than 3 days. [often occurs in late afternoon or early evening] -Plus, one of the following features - Transient evanescent, salmon pink, blanching eruption (90%) [these correspond w/ fever spikes, genrelized distribution tho can favor axilla and waist, koebnerizaiton w/ linerar lesions, can also have persistent papules, plaques, periorbital edema, rheumatoid nodules - like lesions -generalized lymphadenopathy -hepatomegaly/splenomegaly -serositis (pericarditis, pleuritis, peritonitis) -symmetric polyarthritis > oligoarthritis; erosive in 20%
Skin findings in Still disease or systemic-onset juvenile idiopathic arthritis?
Transient evanescent, salmon pink, blanching eruption (90%) Typically arises in late afternoon/evening (corresponds w/ fever spikes) p/w generalized distribution (favors axilla and waist) Koebnerization w/ linear lesions Less common: persistent papules and plaques, periorbital edema, rheumatoid nodule - like lesions
Histology of Still disease/Systemi-onset juvenile idiopathic arthritis?
wo types of cutaneous lesions Evanescent transient exanthem: edema of superficial dermis, superficial, perivascular, and interstitial neutrophilic infiltrate (denser and more neutrophil-predominant than urticaria) in absence of vasculitis Persistent papules/plaques: same as above + parakeratosis, superficially-scattered necrotic keratinocytes
Labratory testing in Still disease (Systemic-onset juvenile idiopathic arthritis)
Leukocytosis, anemia, and thrombocytosis Increase ESR/CRP Increased Ferritin (extremely high, >4000) RF-negative (>95%) ANA negative (>95%)
Epidemiology of adult-onset Still disease?
Vast majority <30 y/o, slight female predominance (M=F in juvenile form)
Pathogensis of adult-onset Still disease?
Possibly a reactive condition triggered by an infectious agent, a/w numerous HLA groups, suggesting genetic element
Clincal presentation of Adult-onset Still disease?
Prodrome of flu-like illness w/ sore throat, constitutional symptoms, high fever, arthralgias, myalgias Fever usually >39 C w/ spiking pattern (later afternoon to early evening) Skin manifestations Salmon patch exanthema (asymptomatic and transient) Occurs w/ fever spikes Trunk and site of pressure w/ keobnerization Violaceous to reddish brown, scaly, persistent papules and plaques (50%)
Skin findings in adult-onset Still disease?
Salmon patch exanthema (asymptomatic and transient) Occurs w/ fever spikes Trunk and site of pressure w/ keobnerization Violaceous to reddish brown, scaly, persistent papules and plaques (50%)
Systemic manifestations of adult-onset still disease?
Systemic manifestations Arthralgias/arthritis (65-100%) Typically knees, wrists, ankles symmetrically Carpal ankylosis (characteristic feature): limited ROM w/ minimal pain Hepatosplenomegaly Complications: macrophage activation syndrome (15%)🡪 life-threatening!
What is the feared systemic complication of adult-onset still disease?
Macrophage activation syndrome (15%) –> life-threatening!
What lab levels correlate with disease severity in Adult-onset still disease?
Ferritin
Lab findings in Adult-onset still disease?
Negative ANA and RF Anemia, leukocytosis, thrombocytosis Increased ESR/CRP Increased Ferritin Levels correlate w/ disease activity A/w chronic pattern of disease, recurrent flares, poor prognosis Lab abnormalities a/w macrophage activation syndrome (MAS
What is the treatment for Adult-onset still disease?
Majority require systemic steroids (pred 40-60 mg/d) May add steroid-sparing agent (MTX=first choice) Inhibitors of IL-1 receptor (anakinra), and IL6 receptor (tocilizumab) may be beneficial

