Summary
Muckle-Wells syndrome (MWS) is rare disorder characterized by chronic recurrent urticaria, periodic arthritis, sensorineural deafness, general signs of inflammation and secondary amyloidosis (AA type). The first symptoms of MWS are moderate fever and non-pruriginous urticaria that may become invalidating because they are almost permanent and begin during childhood. Other main inflammatory signs are located in the joints (arthralgia or arthritis) and eyes (conjunctivitis). Neurosensory hearing loss occurs during adolescence. The disease may be severe if generalized amyloidosis of the AA type occurs. Diagnosis of MWS is based on clinical signs, however genetic diagnosis is feasible. MWS is transmitted as an autosomal dominant disorder with variable expression within a family and from one family to another. The gene responsible for MWS has been identified and is localized on chromosome 1q44. The cold-induced autoinflammatory syndrome 1 (CIAS1 or NAPL3) gene is expressed in peripheral blood leukocytes and encodes the cryopyrin protein, which has the same N terminal domain as pyrin, a protein associated with familial Mediterranean fever. Mutations in the NALP3/CIAS1/PYPAF1 gene are responsible for two other syndromes: familial cold autoinflammatory syndrome (FCAS) and chronic infantile neurological cutaneous and articular (CINCA) syndrome. Hearing aids can improve deafness. Recently, treatment with the recombinant human IL-1 receptor antagonist anakinra was shown to have a dramatic effect against the inflammatory features of MWS.
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Last update: February 2005
