Fujita Yuya, Ogawa Shotaro, Sumichika Yuya, Saito Kenji, Yoshida Shuhei, Matsumoto Haruki, Asano Tomoyuki, Sato Shuzo, Yanagida Mai, Naito Shotaro, Migita Kiyoshi
Department of Rheumatology, Fukushima Medical University School of Medicine, Japan.
Department of General Internal Medicine, Fukushima Medical University, Japan.
Intern Med. 2025 May 15;64(10):1595-1598. doi: 10.2169/internalmedicine.4463-24. Epub 2024 Oct 25.
Familial 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.
家族性地中海热（FMF）是最常见的遗传性自身炎症性疾病，由MEFV基因引起。携带MEFV第10外显子变异的患者，FMF通常在早年发病。一名76岁的日本男性出现持续2 - 3天的周期性发热、胸痛和腹痛。MEFV基因分析显示为复合杂合子M694I/E148Q/L110P。秋水仙碱治疗（0.5毫克/天）改善了患者的症状。这是首例关于一名70多岁发病的携带MEFV第10外显子变异的老年日本FMF患者的病例报告。
