A rare hereditary disease: Muckle-wells syndrome

Nitya Ramreddy, Aviva Hopkins, Carlos Lozada

Research output: Contribution to journalArticle

Abstract

Cryopyrin associated periodic syndrome (CAPS) is a dominantly-inherited autoinflammatory disease, which is included in the group of periodic fever syndromes. It is caused by a defect in the regulation of inflammatory cytokines, particularly interleukin-1β. CAPS encompasses a spectrum of three phenotypes of increasing severity: familial cold autoinflammatory syndrome, Muckle-Wells syndrome (MWS) and neonatal onset multisystem inflammatory disease. We report the case of a 58-year-old male, who had migratory joint pains, daily urticaria, chills, and episodic conjunctivitis since childhood and hearing loss in his 20s with a family history of similar symptoms. He was diagnosed with MWS after being found to have a R262W gene mutation in NLRP3 gene and successfully treated with canakinumab. After his discovery, other 1stand 2nd degree family members with similar complaints were found to have the same genetic mutation and were also successfully treated with canakinumab.

Original languageEnglish (US)
Pages (from-to)7-8
Number of pages2
JournalRheumatology Reports
Volume8
Issue number1
DOIs
StatePublished - Aug 18 2016

Keywords

  • Canakinumab
  • Cryopyrin associated periodic syndrome
  • Muckle-Wells syndrome
  • NLRP3 gene

ASJC Scopus subject areas

  • Rheumatology
  • Immunology

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