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Muckle-Wells syndrome (MWS)

Epidemiology: - rare - onset in childhood - affects persons of European descent Pathology: - amyloidosis [2] Genetics: 1) autosomal dominant 1) mutation in CIAS1 gene Clinical manifestations: 1) periodic fever a) attacks last 1-2 days b) 14 day fever free intervals [2] 2) episodic urticaria-like rash 3) arthralgia, oligoarthritis 4) abdominal pain 5) pleuritis is rare 6) conjunctivitis 7) amyloidosis 8) progressive sensorineural hearing loss Laboratory: - CIAS1 gene mutation Management: - interleukin 1-beta inhibitor [2] - rilonacept - canakinumab (Ilaris) FDA-approved in 2009

Related

NACHT, LRR & PYD domains-containing protein 3; angiotensin/vasopressin receptor AII/AVP-like; caterpiller protein 1.1; CLR1.1; cold autoinflammatory syndrome 1 protein; Cryopyrin; PYRIN-containing APAF1-like protein 1 (NLRP3, C1orf7, CIAS1, NALP3 ,PYPAF1)

General

cryopyrin associated periodic syndrome (CAPS) hereditary periodic fever syndrome; periodic fevers; recurrent fever syndrome; familial autoinflammatory disease

Database Correlations

OMIM 191900

References

  1. OMIM :accession 191900
  2. Medical Knowledge Self Assessment Program (MKSAP) 16, 17, 18. American College of Physicians, Philadelphia 2012, 2015, 2018