title: [Muckle-Wells syndrome: a rare periodic fever syndrome].
abstract: 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.
authors.affiliation: Afd. Interne Geneeskunde, Leids Universitair Medisch Centrum, 2300 RC Leiden. c.w.y.appels@lumc.nl
authors.forename: C W Y
authors.initials: CW
authors.lastname: Appels
authors.forename: M
authors.initials: M
authors.lastname: Kloppenburg
mesh_terms: D000210:Acute-Phase Reaction / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D000328:Adult; D018501:Antirheumatic Agents / Q000627:therapeutic use*; D018771:Arthralgia / Q000209:etiology; D002352:Carrier Proteins / Q000235:genetics*; D005334:Fever / Q000209:etiology; D006801:Humans; D053590:Interleukin 1 Receptor Antagonist Protein; D008297:Male; D009154:Mutation; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D010507:Periodicity; D017472:Receptors, Interleukin-1 / Q000037:antagonists & inhibitors*; D012795:Sialoglycoproteins / Q000627:therapeutic use*; D013577:Syndrome; D016896:Treatment Outcome; D014581:Urticaria / Q000209:etiology
chemical_list: D018501:Antirheumatic Agents; D002352:Carrier Proteins; C507763:IL1RN protein, human; D053590:Interleukin 1 Receptor Antagonist Protein; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; D017472:Receptors, Interleukin-1; D012795:Sialoglycoproteins