Muckle-Wells syndrome

Muckle-Wells syndrome is a rare autoinflammatory disease that is classified as cryopyrin-associated periodic syndrome (CAPS).

The autosomal dominant inherited hereditary disease is characterized by the clinical picture of recurrent urticarial exanthema, fever episodes, joint and muscle pain, weakness, progressive inner ear hearing loss and secondary systemic kidney amyloidosis.

The syndrome occurs for the first time in childhood or adolescence and then progresses with spurts, which appear to occur without obvious triggers. However, in many cases fatigue, stress or exposing to cold are described as triggers of the relapses. The symptoms then appear for about two days, after which there are longer periods without problems. 

The syndrome produces a multitude of symptoms such as mental retardation, dwarfism, joint contractures and the increased risk of cerebral insults, infections, and amyloidosis.