Muckle-Wells-Syndrom als rheumatische Differenzialdiagnose

Case report. The Muckle-Wells syndrome is an autosomal-dominant hereditary disorder, characterized by the trias of sensorineural deafness, recurrent urticaria-like eruption and - prognostically most important - systemic amyloidosis. Recently the gen locus responsible for Muckle-Wells syndrome could be identified at chromosome 1q44. A four generation family is described with 7 members presenting signs ofthe Muckle-Wells syndrome.Two patients showed no signs of systemic amyloidosis by now, but the other five members developed renal insufficiency. Because three of the patients died of this disease, the syndrome could only be diagnosed retrospectively. Discussion. Systemic amyloidosis, a complication of Muckle-Wells syndrome, may already appear at an early age. If the symptoms of urticaria-like eruption,sensorineural deafness and arthritis develop, Muckle-Wells syndrome therefore should be considered and the patients should have the relevant examinations in order to begin early therapy which might prevent secondary amyloidosis.