Familial Mediterranean fever is no longer a rare disease in Japan

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Kiyoshi Migita1,2, Yasumori Izumi3, Yuka Jiuchi3

  • 1Department of Rheumatology, Fukushima Medical University School of Medicine, Hikarigaoka 1, Fukushima, Fukushima, 960-1295, Japan. migitakiyoshi@gmail.com.

Arthritis Research & Therapy
|July 31, 2016
PubMed
Abstract

Insights

Familial Mediterranean fever (FMF) is prevalent in Japanese patients with unexplained fever, affecting 31.9%. MEFV gene mutation analysis aids in predicting FMF clinical phenotypes in Japan.

Area of Science:

  • Rheumatology
  • Genetics
  • Internal Medicine

Background:

  • Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder.
  • Unexplained fever and rheumatic manifestations can be indicative of FMF.
  • Evaluating FMF prevalence in Japan is crucial for diagnosis.

Purpose of the Study:

  • To determine the clinical characteristics and prevalence of FMF in Japanese individuals.
  • To investigate the association between MEFV gene mutations and FMF phenotypes.
  • To assess the utility of MEFV mutational analysis for FMF diagnosis in Japan.

Main Methods:

  • A cohort of 601 patients with unexplained fever or suspected FMF was studied.
  • Patients were classified using Tel Hashomer criteria into sure FMF, probable FMF, and non-FMF groups.
  • MEFV gene mutations in exons 1, 2, 3, and 10 were analyzed via direct sequencing.

Main Results:

  • 192 patients (31.9%) were diagnosed with FMF (108 sure, 84 probable).
  • Fever, abdominal, and thoracic symptoms were more frequent in FMF patients.
  • Most FMF patients (94.3%) carried MEFV mutations, with M694I and E148Q showing significantly higher frequencies.

Conclusions:

  • FMF is confirmed to be prevalent in Japanese patients presenting with unexplained fever.
  • Suspecting FMF in cases of unexplained fever or rheumatic symptoms is recommended.
  • MEFV gene mutation analysis is valuable for predicting FMF clinical phenotypes in the Japanese population.
Keywords:
Familial Mediterranean feverMEFV geneRheumatic manifestations

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