title: Familial Mediterranean fever in Japan.
abstract: Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease that is prevalent in Mediterranean populations. While it is considered a rare disease in the rest of world, a significant number of FMF patients have been reported in East Asia, including Japan. Our aim was to determine the prevalence of FMF in Japan and elucidate the clinical and genetic features of Japanese patients. A primary nationwide survey of FMF was conducted between January and December 2009. Hospitals specializing in pediatrics and hospitals with pediatric, internal medicine, and rheumatology/allergy departments were asked to report all patients with FMF during the survey year. The estimated total number of Japanese FMF patients was 292 (95% confidence interval, 187-398 people). We evaluated the clinical and genetic profiles of Japanese patients from the data obtained in a secondary survey of 134 FMF patients. High-grade fever was observed in 95.5%, chest pain (pleuritis symptoms) in 36.9%, abdominal pain (peritonitis symptoms) in 62.7%, and arthritis in 31.3%. Of the patients profiled, 25.4% of patients experienced their first attack before 10 years of age, 37.3% in their teens, and 37.3% after age 20 years. Colchicine was effective in 91.8% of patients at a relatively low dose (mean dose, 0.89 ± 0.45 mg/d). AA amyloidosis was confirmed in 5 patients (3.7%). Of the 126 patients studied, 109 (86.5%) were positive for 1 or more genetic mutations and 17 (13.5%) had no mutation detected. Common Mediterranean fever gene (MEFV) mutations were E148Q/M694I (19.8%) and M694I/normal (12.7%). The differences in the prevalence of peritonitis, pleuritis, and a family history of FMF were statistically significant between FMF patients with MEFV exon 10 mutations compared with those without exon 10 mutations.In conclusion, a significant number of patients with FMF exist in Japan. Although Japanese patients with FMF are clinically or genetically different from Mediterranean patients, the delay in diagnosis is an issue that should be resolved.
authors.affiliation: From the Clinical Research Center (KM, H Ishibashi), Nagasaki Medical Center, Omura, Nagasaki; Institute of Tropical Medicine (NEKKEN) (M Yasunami), Nagasaki University, Nagasaki; Department of Rheumatology (AK), Nagasaki University Hospital, Nagasaki; Department of Public Health (RU, YN), Jichi Medical University, Tochigi; Department of Medicine (Neurology and Rheumatology) (ATS, M Yazaki, AN), Department of Pathology (JM), Department of Infection and Host Defense (KY, KA), Shinshu University School of Medicine, Matsumoto; Department of Pediatrics (AY), School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa; Clinical Research Center (HF), Sagamihara National Hospital, National Hospital Organization, Sagamihara, Kanagawa; Department of Rheumatology (H Ida), Kurume University School of Medicine, Kurume; Japan. *Study Group of Familial Mediterranean Fever for Research on Intractable Diseases, Health and Labour Science Research Grants, Ministry of Health, Labour and Welfare of Japan.
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Migita
authors.forename: Ritei
authors.initials: R
authors.lastname: Uehara
authors.forename: Yoshikazu
authors.initials: Y
authors.lastname: Nakamura
authors.forename: Michio
authors.initials: M
authors.lastname: Yasunami
authors.forename: Ayako
authors.initials: A
authors.lastname: Tsuchiya-Suzuki
authors.forename: Masahide
authors.initials: M
authors.lastname: Yazaki
authors.forename: Akinori
authors.initials: A
authors.lastname: Nakamura
authors.forename: Junya
authors.initials: J
authors.lastname: Masumoto
authors.forename: Akihiro
authors.initials: A
authors.lastname: Yachie
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Furukawa
authors.forename: Hiromi
authors.initials: H
authors.lastname: Ishibashi
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Ida
authors.forename: Kazuko
authors.initials: K
authors.lastname: Yamazaki
authors.forename: Atsushi
authors.initials: A
authors.lastname: Kawakami
authors.forename: Kazunaga
authors.initials: K
authors.lastname: Agematsu
mesh_terms: D003078:Colchicine / Q000627:therapeutic use*; D010505:Familial Mediterranean Fever / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D005838:Genotype; D006306:Health Surveys; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D009154:Mutation; D015995:Prevalence; D011795:Surveys and Questionnaires
chemical_list: D003078:Colchicine