Kim Shinho, Ikusaka Masatomi, Mikasa Grant, Basugi Ayako, Ohira Yoshiyuki, Nishizawa Soko, Itoga Sakae, Sunaga Masahiko, Nomura Fumio
Department of General Medicine, Chiba University, Chiba, Japan.
Intern Med. 2007;46(5):221-5. doi: 10.2169/internalmedicine.46.1828. Epub 2007 Mar 1.
Familial Mediterranean fever (FMF) had been considered a rare disease in Japan, but since the identification of the causative gene (MEFV) for pyrin/marenostrin in 1997, the occurrence of FMF has been successively reported. We reviewed the clinical features of 7 patients diagnosed with FMF by gene analysis.
During April 2003 and March 2005, we investigated the clinical symptoms, treatment and MEFV types of 7 FMF patients who consulted the General Outpatient Clinic of Chiba University Hospital.
Six patients were in their 20-30s, and one was 54 years of age. There were 4 males and 3 females including a mother and child, and an adult male and his female cousin. Three were solitary incidences. In addition to intermittent fever, 4 patients had chest pain, 1 had abdominal pain, and 1 had chest or abdominal pain. The frequency of attacks was once per 3 months to 1 year in the early stage of the disease, but it slowly increased with disease progression. Leukocytosis and C-reactive protein (CRP) elevation were noted during attacks in all patients. On investigation of MEFV, heterozygosity for the compound pyrin L110P-E148Q/M694I, E148Q/M694I, L110P/E148Q and heterozygosity for pyrin variant M694I alone were detected. Daily administration of colchicine at 0.5 mg prevented attacks in 6 patients, however 1 patient required 1.0 mg for adequate prevention.
Although the incidence is rare, internists should be aware of the characteristic symptoms of FMF: periodic fever and serositis symptoms, and its presence in Japan despite the disease name.
家族性地中海热（FMF）在日本曾被认为是一种罕见疾病，但自1997年鉴定出吡啉/马雷诺斯特林的致病基因（MEFV）以来，陆续有FMF发病的报道。我们回顾了7例经基因分析确诊为FMF患者的临床特征。
在2003年4月至2005年3月期间，我们调查了千叶大学医院普通门诊就诊的7例FMF患者的临床症状、治疗情况及MEFV类型。
6例患者年龄在20 - 30多岁，1例为54岁。有4名男性和3名女性，包括一对母子以及一名成年男性和他的女性表妹。3例为散发病例。除间歇性发热外，4例患者有胸痛，1例有腹痛，1例有胸痛或腹痛。疾病早期发作频率为每3个月至1年1次，但随着疾病进展发作频率逐渐增加。所有患者发作期间均出现白细胞增多和C反应蛋白（CRP）升高。对MEFV进行检测时，发现了复合吡啉L110P - E148Q/M694I、E148Q/M694I、L110P/E148Q杂合子以及单独的吡啉变异体M694I杂合子。6例患者每日服用0.5 mg秋水仙碱可预防发作，但1例患者需要1.0 mg才能有效预防。
尽管发病率较低，但内科医生应了解FMF的特征性症状：周期性发热和浆膜炎症状，以及在日本尽管有疾病名称但仍存在该病的情况。
