Ogita Chie, Matsui Kiyoshi, Kisida Dai, Yazaki Masahide, Nakamura Akinori, Kaku Satosi, Makino Hidehiko, Tadokoro Rei, Azuma Kouta, Tsuboi Kazuyuki, Tani Mei, Tamura Masao, Yoshikawa Takahiro, Morimoto Mai, Nishioka Aki, Sekiguchi Masahiro, Azuma Naoto, Kitano Masayasu, Tsunoda Shinichiro, Sawai Hideaki, Sano Hajime
Division of Rheumatology, Department of Internal Medicine, Hyogo College of Medicine.
Division of Neurology and Rheumatology, Department of Internal Medicine, Shinshu University School of Medicine.
Nihon Rinsho Meneki Gakkai Kaishi. 2017;40(1):21-27. doi: 10.2177/jsci.40.21.
Familial mediterranean fever (FMF) is a single inherited autoinflammatory disease characterized by periodic fever with relatively short duration of 1 to 3 days and sterile serositis. Although the prevalence rate is highest in the Mediterranean coastal area, a large number of cases have been reported recently by genetic analysis by identification of MEFV (Mediterranean fever) which is responsible gene in Japan too. In outpatient department of rheumatology, diagnosis and treatment of FMF is performed in cases where fever and abdominal pain attack are repeated for a short period of time.
We examined cases in which symptoms considered periodic seizures were repeated, excluding autoimmune diseases, infectious diseases, and malignant tumors. In both cases, genetic analysis is performed as auxiliary diagnosis.
Seven cases satisfied the Tel-Hashomer criteria criteria and MEFV gene mutation was detected. Everyone was a female, and half had seizure symptoms at menstruation. Even though there is a difference in the amount of colchicine to be used, either one is effective.
In cases of periodic symptoms or cases called periodic fever, exclusion diagnosis is carried out, there is a need to suspect FMF, determine the effect of colchicine, and perform genetic analysis.
家族性地中海热（FMF）是一种单基因遗传性自身炎症性疾病，其特征为周期性发热，持续时间相对较短，为1至3天，伴有无菌性浆膜炎。尽管在地中海沿岸地区患病率最高，但通过对致病基因MEFV（地中海热基因）的鉴定进行基因分析，近期在日本也报告了大量病例。在风湿病门诊，对于短期内反复出现发热和腹痛发作的病例进行FMF的诊断和治疗。
我们检查了反复出现疑似周期性发作症状的病例，排除了自身免疫性疾病、感染性疾病和恶性肿瘤。在这两种情况下，均进行基因分析作为辅助诊断。
7例符合Tel-Hashomer标准，检测到MEFV基因突变。所有患者均为女性，其中一半在月经期间出现发作症状。尽管秋水仙碱的使用量存在差异，但两种用量均有效。
对于出现周期性症状或所谓周期性发热的病例，进行排除诊断时，有必要怀疑FMF，确定秋水仙碱的疗效，并进行基因分析。
