• Internal medicine · Oct 2024

    Elderly-onset familial Mediterranean Fever Carrying MEFV Exon 10 Variants in a Japanese Patient: A Case Report.

    • Yuya Fujita, Shotaro Ogawa, Yuya Sumichika, Kenji Saito, Shuhei Yoshida, Haruki Matsumoto, Tomoyuki Asano, Shuzo Sato, Mai Yanagida, Shotaro Naito, and Kiyoshi Migita.
    • Department of Rheumatology, Fukushima Medical University School of Medicine, Japan.
    • Intern. Med. 2024 Oct 25.

    AbstractFamilial Mediterranean fever (FMF) is the most prevalent hereditary autoinflammatory disease and is caused by the MEFV gene. In patients carrying MEFV exon 10 variants, FMF usually develops at an early age. A 76-year-old Japanese man presented with a periodic fever lasting 2-3 days, chest pain, and abdominal pain. An MEFV gene analysis revealed compoundheterozygous M694I/E148Q/L110P. Colchicine treatment (0.5 mg/day) improved the patient's symptoms. This is the first case report of an elderly Japanese patient with FMF onset in the 70s carrying the MEFV exon 10 variant.

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