title: Clinical study of 7 cases of familial Mediterranean fever with MEFV gene mutation.
abstract: OBJECTIVE
  Familial Mediterranean fever (FMF) had been considered a rare disease in Japan, but since the identification of the causative gene (MEFV) for pyrin/marenostrin in 1997, the occurrence of FMF has been successively reported. We reviewed the clinical features of 7 patients diagnosed with FMF by gene analysis.
  
  
  METHODS
  During April 2003 and March 2005, we investigated the clinical symptoms, treatment and MEFV types of 7 FMF patients who consulted the General Outpatient Clinic of Chiba University Hospital.
  
  
  RESULTS
  Six patients were in their 20-30s, and one was 54 years of age. There were 4 males and 3 females including a mother and child, and an adult male and his female cousin. Three were solitary incidences. In addition to intermittent fever, 4 patients had chest pain, 1 had abdominal pain, and 1 had chest or abdominal pain. The frequency of attacks was once per 3 months to 1 year in the early stage of the disease, but it slowly increased with disease progression. Leukocytosis and C-reactive protein (CRP) elevation were noted during attacks in all patients. On investigation of MEFV, heterozygosity for the compound pyrin L110P-E148Q/M694I, E148Q/M694I, L110P/E148Q and heterozygosity for pyrin variant M694I alone were detected. Daily administration of colchicine at 0.5 mg prevented attacks in 6 patients, however 1 patient required 1.0 mg for adequate prevention.
  
  
  CONCLUSIONS
  Although the incidence is rare, internists should be aware of the characteristic symptoms of FMF: periodic fever and serositis symptoms, and its presence in Japan despite the disease name.
authors.affiliation: Department of General Medicine, Chiba University, Chiba, Japan. kim-shinho@mx4.ttcn.ne.jp
authors.forename: Shinho
authors.initials: S
authors.lastname: Kim
authors.forename: Masatomi
authors.initials: M
authors.lastname: Ikusaka
authors.forename: Grant
authors.initials: G
authors.lastname: Mikasa
authors.forename: Ayako
authors.initials: A
authors.lastname: Basugi
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Ohira
authors.forename: Soko
authors.initials: S
authors.lastname: Nishizawa
authors.forename: Sakae
authors.initials: S
authors.lastname: Itoga
authors.forename: Masahiko
authors.initials: M
authors.lastname: Sunaga
authors.forename: Fumio
authors.initials: F
authors.lastname: Nomura
mesh_terms: D015746:Abdominal Pain / Q000209:etiology; D000328:Adult; D001483:Base Sequence; D002097:C-Reactive Protein / Q000032:analysis; D002637:Chest Pain / Q000209:etiology; D003078:Colchicine / Q000008:administration & dosage / Q000627:therapeutic use; D003598:Cytoskeletal Proteins / Q000235:genetics*; D018450:Disease Progression; D004334:Drug Administration Schedule; D010505:Familial Mediterranean Fever / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007964:Leukocytosis / Q000209:etiology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010996:Pleural Effusion / Q000000981:diagnostic imaging / Q000209:etiology; D000071198:Pyrin; D013902:Radiography, Thoracic; D014057:Tomography, X-Ray Computed
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin; D002097:C-Reactive Protein; D003078:Colchicine