Case Report

Familial Mediterranean fever in three Japanese patients, and a comparison of the frequency of MEFV gene mutations in Japanese and Mediterranean populations

Authors

Tomoko Sugiura¹, Yasushi Kawaguchi¹, Satoru Fujikawa¹, Yukiko Hirano², Toru Igarashi³, Manabu Kawamoto¹, Kae Takagi¹, Masako Hara¹ and Naoyuki Kamatani¹

1. Institute of Rheumatology, Tokyo Women’s Medical University School of Medicine, 10-22 Kawada-cho, Shinjuku-ku, Tokyo 162-0054, Japan
2. Department of Pediatrics, Tokyo Women’s Medical University School of Medicine, Tokyo, Japan
3. Department of Pediatrics, Nippon Medical School, Tokyo, Japan

Received:

11 July 2007

Accepted:

9 August 2007

Published online:

22 December 2007

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Abstract

We report on three Japanese patients (two families) with familial Mediterranean fever (FMF), a rare disease in the Far East. Two of the patients (siblings with definite FMF) were heterozygous for both E148Q and M694I, and the remaining patient (with probable FMF and no family history of the disease) was heterozygous for both P369S and R408Q. Although the M694I mutation is less common among Mediterranean populations, it was present in 22 (76%) of 29 Japanese patients with FMF (previously reported cases). We therefore investigated the allele frequency of M694I in the healthy Japanese population, as well as other FMF-causing mutations in exon 10 (M680I, M694V, and V726A) and polymorphisms (E148Q, P369S, and R408Q) of the Mediterranean fever gene (MEFV). The allele frequencies of disease-causing mutations, even M694I, were <0.001. While those of E148Q, P369S, and R408Q were 0.23, 0.057, and 0.054, respectively. Because of the low allele frequencies of disease-causing mutations, FMF is an extremely rare disease among Japanese individuals. However, FMF is an important component of hereditary autoinflammatory syndrome, and a diagnosis of FMF is crucial for the choice of treatment, because of the benefit of colchicine therapy.

Key words

Familial Mediterranean fever - MEFV - Pyrin - Mutation - Periodic fever