Cryopyrin-associated periodic syndromes: diagnosis and management

Abstract

Cryopyrin-associated periodic syndromes (CAPS) are a group of rare autoinflammatory disorders; many cases of CAPS are caused by mutations in the NLRP3 gene. In these conditions, interleukin (IL)-1 is overproduced, and this overproduction plays a major role in disease onset and progression. CAPS include three variants, ranging in order of increasing severity from familial cold autoinflammatory syndrome, previously termed familial cold urticaria, through Muckle-Wells syndrome, to chronic infantile neurologic cutaneous articular syndrome, also known as neonatal onset multisystemic inflammatory disease. Diagnosis of CAPS is initially based on clinical manifestations and medical history, and later confirmed genetically. CAPS should be suspected when characteristic skin lesions, typical periodic fever episodes, bone/joint manifestations, and CNS involvement are recognized. CAPS are life-long diseases, and early diagnosis and early treatment with IL-1-targeted therapies may improve prognosis.