Hotta Yuma, Kawasaki Tatsuya, Kotani Tomoya, Okada Hiroshi, Ikeda Kanami, Yamane Satoki, Yamada Nobuhisa, Sekoguchi Satoru, Isozaki Yutaka, Nagao Yasuyuki, Murotani Masahiro, Oyamada Hirokazu
Department of General Internal Medicine, Matsushita Memorial Hospital, Japan.
Murotani Clinic, Japan.
Intern Med. 2020 May 15;59(10):1267-1270. doi: 10.2169/internalmedicine.3175-19. Epub 2020 Feb 12.
Familial Mediterranean fever (FMF) is an autosomal recessive hereditary disease commonly observed around the Mediterranean basin presenting as recurrent febrile episodes. We herein describe a Japanese case of genetically-confirmed FMF, in which fever was lacking during attacks. An otherwise healthy 34-year-old man presented with frequent episodes of abdominal pain, which resolved spontaneously. During the attacks, the patient was afebrile, but the inflammatory marker levels in his blood were increased. Abdominal CT demonstrated enhancement of the jejunal membrane. After the initiation of colchicine therapy, the patient experienced no attacks for more than one year. The diagnosis of FMF was confirmed by a genetic analysis.
家族性地中海热（FMF）是一种常染色体隐性遗传病，常见于地中海盆地周围，表现为反复发热发作。我们在此描述一例经基因确诊的日本FMF病例，其发作期间无发热症状。一名34岁身体健康的男性频繁出现腹痛，腹痛可自行缓解。发作期间，患者无发热，但血液中的炎症标志物水平升高。腹部CT显示空肠黏膜强化。开始使用秋水仙碱治疗后，患者一年多未发作。通过基因分析确诊为FMF。
