Cryopyrin‐associated periodic syndrome with inflammatory bowel disease: A case study

Abstract

Cryopyrin‐associated Periodic Syndrome (CAPS) is a rare, genetic autoinflammatory condition associated with NLRP3 gene mutations, causing upregulated innate immunity. CAPS manifests as systemic inflammation, causing a constellation of symptoms on a clinical spectrum of phenotypical severity: Familial Cold Autoinflammatory Syndrome being the mildest, Muckle‐Wells Syndrome moderate, and Neonatal Onset Multisystem Inflammatory Disease the most severe, with phenotype spectrum overlap. The treatment in Australia for CAPS is interleukin‐1 blockade with receptor antagonist, anakinra. We describe the case of a 46‐year‐old female with CAPS who presented to the emergency department with severe abdominal pain. Sigmoidoscope revealed severe colitis with deep ulceration, which did not respond to hydrocortisone and azathioprine and was ultimately resolved by infliximab rescue therapy, maintained in combination with anakinra.