Autoinflammatory Diseases Flashcards
(19 cards)
Systemic autoinflammatory diseases
episodes of seemingly unprovoked inflammation, absence of high titer autoantibodies, innate immune responses are prominently involved in the pathophysiology
Inflammasomopathies
FMF, CAPS, MVKD/HIDS, TRAPS, PAPA
Cryopyrin associated periodic syndromes (CAPS)
Familial cold-induced utricaria, muckle-wells, and neonatal onset multisystem inflammatory disease (NOMID)
Muckle-Wells syndrome - gene overview
AD, mutation in CIAS1 on 1q44, codes for cryopyrin, defective cryopyrin leads to increased production of IL1-beta and TNFalpha
Cryopyrin function
important for apoptosis and down regulating signaling pathways
Muckle-wells syndrome symptoms
Inflammatory episodes (limb pain/arthritis, fever, hives, conjuctivitis), sensorineural hearing loss, systemic amyloidosis
How do you diagnose muckle-wells?
Genetic test to identify CIAS1 PVs, over 20 defects in CIAS1
Other disorders associated with defects in cryopyrin
familial cold-induced utricarial; neonatal-onset multisystem inflammatory disease (NOMID); and chronic infantile neurologic cutaneous, articular syndrome (CINCA)
Therapies for cyropyrin associated disorders
Prednisone, anakinra, canakinumab, rilonacept
Prognosis for CAPS
Prior to anti-IL-1beta therapy, prognosis was not good. Has decreased kidney damage and has lead to partial hearing recovery. Vaccines can trigger CAPS episodes.
Familial mediterranean fever - genetic info
MEFV gene on 16p13.3, codes for pyrin/marenostrin, 35 mutations found, Most common in sephardic jews, arabs, armenians, and turks.
How do you diagnose familial mediterranean fever?
genetic typing
FMF symptoms
“three day disease” - recurrent episodes of inflammation lasting 1-3 days, serositis, pleuritis, pericarditis, asceptic meningitis, PAN, glomerulonephritis or proteinuria, fever, abdominal pain, articular pain, rash, myalgias
FMF therapy
colchicine daily - recommended first line for FMF, decreases frequency and severity of attacks
Anti-iL1 - canakinumab, anakinra, and rilonacept
TNF Receptor1 associated periodic fever syndrome (TRAPS) - genetic info
AD, TNFRSF1A gene
TRAPS symptoms
attacks of fever, serositis, arthritis, myalgias, conjuctivitis, and rash lasting weeks; migratory rash; periorbital edema (unique); renal amyloidosis
Therapy for TRAPS
Prednisone, TNFa antagonist
Therapy for TRAPS
depends on whether AA amyloidosis develops
Hyperimmunoglobulin D Syndrome (HIDS)
AR, mutations in mevalonate kinase gene
