title: A case of familial Mediterranean fever who complained of periodic fever and abdominal pain diagnosed by MEFV gene analysis.
abstract: Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease caused by Mediterranean FeVergene (MEFV) mutations on Chromosome 16, and characterized by periodic fever of and serositis. FMF is the result of gain-of-function mutations in pyrin that lead to interleukin-1β activation. FMF can be classified as "typical" and "atypical" types based on clinical finding and genetic screening. Although MEFV genotyping has enabled FMF to be confirmed in some cases, the diagnosis remains predominantly clinical since genotyping has shown that the disease is characterized by variable manifestations in Japanese. In 1976, the first report performed on the case of Japanese FMF with periodic fever of and serositis. Since 2002, genetic analyses are performed on Japanese FMF patients by K. Shiozaki et al. and N. Tomiyama et al. In our case, she was a 25-year-old Japanese woman with at periodic fever and abdominal pain. MEFV gene analysis demonstrated a heterozygous mutation of variant M694I, leading to a diagnosis of FMF. After the increase dose (up to 3 mg/day) of colchicine, periodic fever and abdominal pain disappeared. It is the important candidate of FMF for differential diagnosis with unexplained periodic fever and serositis, such as our case.
authors.affiliation: Division of Rheumatology, Department of Internal Medicine, Hyogo College of Medicine.
authors.forename: Chie
authors.initials: C
authors.lastname: Ogita
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Matsui
authors.forename: Dai
authors.initials: D
authors.lastname: Kisida
authors.forename: Mariko
authors.initials: M
authors.lastname: Kakudou
authors.forename: Masahide
authors.initials: M
authors.lastname: Yazaki
authors.forename: Akinori
authors.initials: A
authors.lastname: Nakamura
authors.forename: Kouta
authors.initials: K
authors.lastname: Azuma
authors.forename: Kazuyuki
authors.initials: K
authors.lastname: Tsuboi
authors.forename: Takeo
authors.initials: T
authors.lastname: Abe
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Yokoyama
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Furukawa
authors.forename: Momo
authors.initials: M
authors.lastname: Maruoka
authors.forename: Masao
authors.initials: M
authors.lastname: Tamura
authors.forename: Takahiro
authors.initials: T
authors.lastname: Yoshikawa
authors.forename: Atsushi
authors.initials: A
authors.lastname: Saito
authors.forename: Aki
authors.initials: A
authors.lastname: Nishioka
authors.forename: Masahiro
authors.initials: M
authors.lastname: Sekiguchi
authors.forename: Naoto
authors.initials: N
authors.lastname: Azuma
authors.forename: Masayasu
authors.initials: M
authors.lastname: Kitano
authors.forename: Shinichiro
authors.initials: S
authors.lastname: Tsunoda
authors.forename: Tomoko
authors.initials: T
authors.lastname: Hashimoto-Tamaoki
authors.forename: Hajime
authors.initials: H
authors.lastname: Sano
mesh_terms: D015746:Abdominal Pain / Q000188:drug therapy / Q000209:etiology*; D000328:Adult; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D003078:Colchicine / Q000008:administration & dosage; D003937:Diagnosis, Differential; D010505:Familial Mediterranean Fever / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D005334:Fever / Q000188:drug therapy / Q000209:etiology*; D060005:Genotyping Techniques; D006579:Heterozygote; D006801:Humans; D053583:Interleukin-1beta / Q000378:metabolism; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D009154:Mutation; D010507:Periodicity; D000071198:Pyrin / Q000235:genetics*; D016896:Treatment Outcome
chemical_list: D053583:Interleukin-1beta; C000604192:MEFV protein, human; D000071198:Pyrin; D003078:Colchicine