CAPS
Also written as: CAPS — Cryopyrin-Associated Periodic Syndromes
Cryopyrin-Associated Periodic Syndromes, a group of autoinflammatory disorders caused by mutations in the NLRP3 gene.
Full Definition
Cryopyrin-Associated Periodic Syndromes (CAPS) are a spectrum of autoinflammatory diseases caused by gain-of-function mutations in the NLRP3 gene, which encodes cryopyrin. The spectrum includes familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome, and neonatal-onset multisystem inflammatory disease (NOMID). Patients typically present with recurrent fever, urticarial rash, arthralgia, and in severe cases, neurologic and ocular manifestations. Treatment often involves IL-1 inhibitors such as anakinra or canakinumab.
Usage
Usage note: Always spell out on first use in patient-facing documents.
In Context
- "The newborn's presentation with fever, rash, and arthropathy raised suspicion for CAPS, specifically NOMID." — Neonatal consultation note
- "IL-1 blockade therapy showed dramatic improvement in this patient with confirmed CAPS." — Treatment response report