Management of Cryopyrin-associated Periodic Syndromes

Abstract

Abstract
Cryopyrin-associated periodic syndromes is a term used to encompass three rare auto-inflammatory disorders: familial cold autoinflammatory syndrome (FCAS), Muckle–Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disorder (NOMID). Symptoms include urticaria-like rash, fever and/or chills, as well as inflammation of the joints and eyes caused by a variety of triggers. These related diseases have been associated with mutations in the NLRP3 (CIAS1) gene leading to aberrant regulation of the interleukin-1 (IL-1) pathway and hypersecretion of active proinflammatory IL-1β. Inhibitors of IL-1β signalling such as anakinra, rilonacept and canakinumab have demonstrated high efficacy in treating these conditions, supporting the fundamental role of IL-1 in disease pathogenesis.

Keywords
Cryopyrin-associated periodic syndromes (CAPS), familial cold autoinflammatory syndrome (FCAS), Muckle–Wells syndrome (MWS), neonatal-onset multisystem inflammatory disorder (MOMID), autoinflammatory syndromes, NLRP3, interleukin-1, anakinra, rilonacept, canakinumab

Disclosure: Hal M Hoffman is a consultant for Regeneron and Novartis Pharmaceuticals.
Received: 17 September 2009 Accepted: 25 September 2009
Correspondence: Hal M Hoffman, Associate Professor of Pediatrics and Medicine, Division of Rheumatology, Allergy, and Immunology, UCSD Mail code 0635, 9500 Gilman Drive, La Jolla, CA 92093, US. E: hahoffman@ucsd.edu