Muckle-Wells syndrome (MWS)

Epidemiology

• rare
• onset in childhood
• affects persons of European descent

Pathology

• amyloidosis

Genetics

• autosomal dominant
• mutation in CIAS1 gene

Clinical manifestations

• periodic fever
  • attacks last 1-2 days
  • 14 day fever free intervals
• episodic urticaria-like rash
• arthralgia, oligoarthritis
• abdominal pain
• pleuritis is rare
• conjunctivitis
• amyloidosis
• progressive sensorineural hearing loss

Laboratory

• CIAS1 gene mutation

Management

• interleukin 1-beta inhibitor
  • rilonacept
  • canakinumab (Ilaris) FDA-approved in 2009

More general terms

• cryopyrin associated periodic syndrome (CAPS)
• autoinflammatory disease

Additional terms

• 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)

Database

• OMIM: https://mirror.omim.org/entry/191900