title: Coexistence of polymyositis and familial Mediterranean fever.
abstract: Familial Mediterranean fever (FMF) is an autosomal recessive disease affecting populations surrounding the Mediterranean area. In this case report, we report a Japanese female patient with polymyositis (PM) who presented with periodic fever. Genetic analysis revealed that she had compound heterozygous mutations in exon 2 of the MEFV gene (L110P/E148Q/R202Q). Treatment with colchicines (1.0 mg/day) successfully eliminated febrile attack and normalized the elevated levels of neutrophil CD64 expression, leading to the diagnosis of FMF. The association of FMF and PM has not previously been reported, so we discuss this rare association.
authors.affiliation: Department of General Internal Medicine and Rheumatology, Clinical Research Center, NHO National Nagasaki Medical Center, Kubara 2-1001-1, Omura 856-8652, Japan.
authors.forename: Mami
authors.initials: M
authors.lastname: Eguchi
authors.forename: Taiichiro
authors.initials: T
authors.lastname: Miyashita
authors.forename: Haruka
authors.initials: H
authors.lastname: Shirouzu
authors.forename: Saya
authors.initials: S
authors.lastname: Sato
authors.forename: Yasumori
authors.initials: Y
authors.lastname: Izumi
authors.forename: Atsushi
authors.initials: A
authors.lastname: Takeoka
authors.forename: Tadayoshi
authors.initials: T
authors.lastname: Ohno
authors.forename: Remi
authors.initials: R
authors.lastname: Sumiyoshi
authors.forename: Ayako
authors.initials: A
authors.lastname: Nishino
authors.forename: Yuka
authors.initials: Y
authors.lastname: Jiuchi
authors.forename: Fumiaki
authors.initials: F
authors.lastname: Nonaka
authors.forename: Katsumi
authors.initials: K
authors.lastname: Eguchi
authors.forename: Atsushi
authors.initials: A
authors.lastname: Kawakami
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Migita
mesh_terms: D000328:Adult; D003078:Colchicine / Q000627:therapeutic use; D003598:Cytoskeletal Proteins / Q000235:genetics; D004252:DNA Mutational Analysis; D010505:Familial Mediterranean Fever / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D017285:Polymyositis / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D000071198:Pyrin; D016896:Treatment Outcome
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin; D003078:Colchicine