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Pathophysiology of Cryopyrin-Associated Periodic Syndromes (CAPS)

Genetic Mutations May Lead to Overproduction of IL-1β, a Key Driver of Inflammation in CAPS1

CAPS is caused by genetic mutations, often in the NLRP3 (or CIAS1) gene 1,2

  • These mutations result in overproduction of the proinflammatory cytokine, interleukin-1 beta (IL-1β)1
    • Usually autosomal-dominant inherited mutations2
  • Overproduction of IL-1β may result in the debilitating and recurrent Symptoms of CAPS3-5

MolecularPathogenesis

CAPS—A Genetic Disease

  • Knowledge of the family connections in CAPS can be valuable to the health of future generations:
    • A link to an ancestor with CAPS may be revealed
    • Another family member suffering from the disease may be diagnosed

Use the downloadable assessment below to help you identify CAPS patients in your practice and possible family connections.

 

ILARIS® Patient Support Program

The ILARIS® Patient Support Program provides patients with information and tools to assist in managing their treatment with ILARIS® and helps to identify resources that can assist with payment for their medication.
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CAPS Signs and Symptoms Assessment

A brief assessment that can be referenced in-office when seeing patients. If a patient experiences any of these signs or symptoms on an ongoing basis, a diagnosis of CAPS may be considered.

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References:

  • 1. Agostini L, Martinon F, Burns K, McDermott MF, Hawkins PN, Tschopp J. NALP3 forms an IL-1β-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity. 2004;20:319-325.
  • 2. Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet. 2001;29:301-305.
  • 3. Hawkins PN, Lachmann HJ, Aganna E, Dermott MF. Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum. 2004;50:607-612.
  • 4. Hoffman HM, Wanderer AA, Broide DH. Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol. 2001;108:615-620.
  • 5. Watts RA, Nicholls A, Scott DGI. Case report: the arthropathy of the Muckle-Wells syndrome. Br J Rheumatol. 1994;33:1184-1187.


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