CAPS : Cryopyrin-associated periodic syndrome

Abstract

Cryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory syndrome caused by heterozygous mutations of NLRP3 gene. CAPS consists of three phenotypically similar but distinct syndromes: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome and CINCA syndrome. Among them, FCAS shows the mildest phenotype while CINCA is the severest. Common symptoms include sporadic or cold-induced nonpruritic urticarial rash and fever. Severe cases suffers from deafness, meningitis, articular contracture and secondary amyloidosis. Gain-of-function mutations of NLRP3 causes excessive production of a potent proinflammatory cytokine IL-1β, thereby evokes autoinflammatory symptoms of CAPS. Recent advances of anti-IL-1 therapy dramatically improved the prognosis of CAPS. Currently three anti-IL-1 medicines are available, and all of them significantly improved clinical symptoms of CAPS patients. Although long-term observation is still needed, the molecular-targeted therapy has opened up a new opportunity for managing CAPS.