Muckle-Wells Syndrome — A Diagnosis Frequently Delayed

Muckle-Wells syndrome (MWS) is an inherited autoinflammatory syndrome that can present in childhood or adulthood. The original description included urticarial rash, deafness, and amyloidosis, but its manifestations are more protean. It falls at the milder end of the spectrum of cryopyrin-associated autoinflammatory disorders. A mutation in the NLRP3 gene that encodes for the protein cryopyrin/NALP3 and activates intercellular caspase-1 causes overproduction of interleukin (IL)-1β, which results in the clinical manifestations of MWS. Treatment with agents that suppress IL-1β production, including anakinra and canakinumab, blocks end-organ damage and effectively controls inflammatory symptoms.

At two European centers for autoinflammatory disea…