Cryopyrin Associated Periodic Syndromes (CAPS)
Mutations in the C1AS1 gene cause three clinically overlapping autosomal dominant periodic fever syndromes ranging from mild (FCAS) to moderate (Muckle-Wells) to severe (CINCA).
-FCAS is characterized by cold-induced attacks of fever and urticaria-like rash.Muckle-Wells is characterized by fever and urticaria-like rash, sensorineural hearing loss, and a significant risk (25%) for developing amyloidosis.
-CINCA is characterized by fever with urticaria-like rash, mental retardation, seizure, hearing loss, and high rate of mortality before adulthood.
The treatment of choice is Anakinra, a recombinant IL-1 receptor antagonist. Anakinra can reduce inflammation and has been used successfully to treat renal amyloidosis.