title: Mediterranean fever (MEFV) variant P369S/R408Q in a patient with entero-Behçet's disease who successfully responded to treatment with colchicine.
abstract: A 57-year-old Japanese woman who had been diagnosed as having entero-Behçet's disease nine years earlier was admitted with a persistent high-grade fever. An Mediterranean fever (MEFV) gene analysis revealed the compound heterozygous P369S-R408Q variant. She was treated with colchicine, and her symptoms immediately improved. Prednisolone (PSL) was added to treat the punched-out ulcers in the terminal ileum, leading to remission. There has been no relapse since the PSL was discontinued. In Behçet's disease patients with MEFV variants, the use of colchicine should therefore be considered in such patients as well as immunosuppressive therapy.
authors.affiliation: Department of Rheumatology, Japan Community Health care Organization (JCHO), Isahaya General Hospital, Japan.
authors.forename: Keita
authors.initials: K
authors.lastname: Fujikawa
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Migita
authors.forename: Akio
authors.initials: A
authors.lastname: Nagasato
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Tsukada
authors.forename: Atsushi
authors.initials: A
authors.lastname: Kawakami
authors.forename: Katsumi
authors.initials: K
authors.lastname: Eguchi
mesh_terms: D001528:Behcet Syndrome / Q000150:complications / Q000188:drug therapy* / Q000235:genetics*; D003078:Colchicine / Q000627:therapeutic use*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D011239:Prednisolone / Q000627:therapeutic use; D000071198:Pyrin; D012008:Recurrence; D014456:Ulcer / Q000188:drug therapy / Q000209:etiology
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin; D011239:Prednisolone; D003078:Colchicine