Autoinflammatory Diseases

Question 1

Systemic autoinflammatory diseases

Answer 1

episodes of seemingly unprovoked inflammation, absence of high titer autoantibodies, innate immune responses are prominently involved in the pathophysiology

Question 2

Inflammasomopathies

Answer 2

FMF, CAPS, MVKD/HIDS, TRAPS, PAPA

Question 3

Cryopyrin associated periodic syndromes (CAPS)

Answer 3

Familial cold-induced utricaria, muckle-wells, and neonatal onset multisystem inflammatory disease (NOMID)

Question 4

Muckle-Wells syndrome - gene overview

Answer 4

AD, mutation in CIAS1 on 1q44, codes for cryopyrin, defective cryopyrin leads to increased production of IL1-beta and TNFalpha

Question 5

Cryopyrin function

Answer 5

important for apoptosis and down regulating signaling pathways

Question 6

Muckle-wells syndrome symptoms

Answer 6

Inflammatory episodes (limb pain/arthritis, fever, hives, conjuctivitis), sensorineural hearing loss, systemic amyloidosis

Question 7

How do you diagnose muckle-wells?

Answer 7

Genetic test to identify CIAS1 PVs, over 20 defects in CIAS1

Question 8

Other disorders associated with defects in cryopyrin

Answer 8

familial cold-induced utricarial; neonatal-onset multisystem inflammatory disease (NOMID); and chronic infantile neurologic cutaneous, articular syndrome (CINCA)

Question 9

Therapies for cyropyrin associated disorders

Answer 9

Prednisone, anakinra, canakinumab, rilonacept

Question 10

Prognosis for CAPS

Answer 10

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.

Question 11

Familial mediterranean fever - genetic info

Answer 11

MEFV gene on 16p13.3, codes for pyrin/marenostrin, 35 mutations found, Most common in sephardic jews, arabs, armenians, and turks.

Question 12

How do you diagnose familial mediterranean fever?

Answer 12

genetic typing

Question 13

FMF symptoms

Answer 13

“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

Question 14

FMF therapy

Answer 14

colchicine daily - recommended first line for FMF, decreases frequency and severity of attacks
Anti-iL1 - canakinumab, anakinra, and rilonacept

Question 15

TNF Receptor1 associated periodic fever syndrome (TRAPS) - genetic info

Answer 15

AD, TNFRSF1A gene

Question 16

TRAPS symptoms

Answer 16

attacks of fever, serositis, arthritis, myalgias, conjuctivitis, and rash lasting weeks; migratory rash; periorbital edema (unique); renal amyloidosis

Question 17

Therapy for TRAPS

Answer 17

Prednisone, TNFa antagonist

Question 18

Therapy for TRAPS

Answer 18

depends on whether AA amyloidosis develops

Question 19

Hyperimmunoglobulin D Syndrome (HIDS)

Answer 19

AR, mutations in mevalonate kinase gene