familial cold autoinflammatory syndrome (FCAS)

Epidemiology

• rare
• onset < 1 year of age
• affects children of European descent

Pathology

• systemic inflammatory disease
• amyloidosis

Genetics

• autosomal dominant
• mutation in CIAS1 gene

Clinical manifestations

• episodes of rash, arthralgia, fever & conjunctivitis after generalized exposure to cold
• attacks last 12-24 hours
• urticaria-like rash
• nausea
• headache
• sensorineural hearing loss

Management

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

More general terms

• cryopyrin associated periodic syndrome (CAPS)

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/120100