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Familial Mediterranean fever (FMF) is an autosomal recessive disease affecting populations surrounding the Mediterranean area. In this case report, we report a Japanese female patient with polymyositis (PM) who presented with periodic fever. Genetic analysis revealed that she had compound heterozygous mutations in exon 2 of the MEFV gene (L110P/E148Q/R202Q). Treatment with colchicines (1.0 mg/day) successfully eliminated febrile attack and normalized the elevated levels of neutrophil CD64 expression, leading to the diagnosis of FMF. The association of FMF and PM has not previously been reported, so we discuss this rare association.

Citation

Mami Eguchi, Taiichiro Miyashita, Haruka Shirouzu, Saya Sato, Yasumori Izumi, Atsushi Takeoka, Tadayoshi Ohno, Remi Sumiyoshi, Ayako Nishino, Yuka Jiuchi, Fumiaki Nonaka, Katsumi Eguchi, Atsushi Kawakami, Kiyoshi Migita. Coexistence of polymyositis and familial Mediterranean fever. Modern rheumatology / the Japan Rheumatism Association. 2013 Mar;23(2):374-8

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PMID: 22534884

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