Muckle-Wells syndrome: a rare periodic fever syndrome
Appels, C.W.Y.; Kloppenburg, M.
Nederlands Tijdschrift Voor Geneeskunde 150(29): 1628-1631
2006
ISSN/ISBN: 0028-2162 PMID: 16901068 Document Number: 602991
A 41-year-old patient was referred to our rheumatology ward due to a long history of urticaria, joint pain and fever. These symptoms appeared during the evening and then resolved during the night. Extensive testing in the past failed to provide a diagnosis and treatment with high-dose corticosteroids, methotrexate and colchicine was ineffective. Based on clinical criteria, including bilateral sensorineural hearing loss, we diagnosed Muckle-Wells syndrome, a rare auto-inflammatory disease considered one of the hereditary periodic fever syndromes and caused by a mutation in the CIAS1 gene. There was a remarkable response to anakinra, an interleukin-1 receptor antagonist. The favourable results suggest that interleukin-1 plays an important role in the development of this syndrome.