A rare hereditary disease: Muckle-Wells syndrome

  • Nitya Ramreddy | nrr49@med.miami.edu Department of Internal Medicine, University of Miami Miller School of Medicine, Miami, United States.
  • Aviva Hopkins Department of Rheumatology, University of Miami Miller School of Medicine, Miami; Holy Cross Hospital, Fort Lauderdale, FL, United States.
  • Carlos Lozada Department of Rheumatology, University of Miami Miller School of Medicine, Miami, United States.

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 1st and 2nd degree family members with similar complaints were found to have the same genetic mutation and were also successfully treated with canakinumab.

Dimensions

Altmetric

PlumX Metrics

Downloads

Download data is not yet available.
Published
2016-08-18
Info
Issue
Section
Case Reports & Letters
Keywords:
Cryopyrin associated periodic syndrome, Muckle-Wells syndrome, NLRP3 gene, Canakinumab.
Statistics
  • Abstract views: 1488

  • PDF: 537
How to Cite
Ramreddy, N., Hopkins, A., & Lozada, C. (2016). A rare hereditary disease: Muckle-Wells syndrome. Rheumatology Reports, 8(1). https://doi.org/10.4081/rr.2016.6535