A rare hereditary disease: Muckle-Wells syndrome

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 <em>R262W</em> gene mutation in <em>NLRP3</em> gene and successfully treated with canakinumab. After his discovery, other 1<sup>st</sup> and 2<sup>nd</sup> degree family members with similar complaints were found to have the same genetic mutation and were also successfully treated with canakinumab.