Late-onset familial Mediterranean fever in Japan
Late-onset familial Mediterranean fever in Japan
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DOI：
10.1080/14397595.2019.1621440
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发表时间：
2019-06-24
影响因子：
2.2
通讯作者：
Sekijima, Yoshiki
中科院分区：
文献类型：
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作者：
Kishida, Dai;Yazaki, Masahide;Sekijima, Yoshiki
目的：大多数家族性地中海热（FMF）患者首次发病年龄< 20岁。关于迟发性FMF（年龄>= 40岁）的信息有限。我们的目的是评估日本人群中迟发性FMF患者的人口学、临床和遗传特征。方法：对292例FMF患者进行回顾性分析。根据发病年龄将患者分为三组：第一组，40岁。结果：292例患者中，44例（15.1%）在40岁时首次发病。III组患者以高热（97.7%）和关节炎（45.5%）为常见症状，腹膜炎（40.9%）和胸膜炎（25.0%）明显低于其他组。pm694i是日本最具代表性的突变，携带pm694i的患者频率（18.2%）在III组明显低于i组。秋水仙碱治疗的疗效良好（95.1%），各组相似。结论：在日本，迟发性FMF患者多于预期。他们的病情较轻，腹膜炎和胸膜炎的发生率较低。秋水仙碱治疗效果良好。临床医生应考虑FMF患者不明原因的反复发热发作，无论年龄。
Objectives: Most patients with familial Mediterranean fever (FMF) have their first attack at age < 20 years. Information about late-onset (age >= 40 years) FMF is limited. We aimed to evaluate the demographic, clinical, and genetic characteristics of late-onset FMF patients in the Japanese population. Methods: We retrospectively analyzed 292 patients with FMF. Patients were divided into three groups according to age of disease onset: Group I, = 40 years. Results: Of 292 patients, 44 (15.1%) experienced their first attack at age >= 40 years. While high fever (97.7%) and arthritis (45.5%) were common symptoms in Group III patients, peritonitis (40.9%) and pleuritis (25.0%) were significantly lower than in other groups. The frequency of patients carrying p.M694I (18.2%), which is the most representative mutation in Japan, was significantly lower in Group III than in Group I. The response to colchicine therapy was good (95.1%) and similar in all groups. Conclusions: In Japan, more patients than expected had late-onset FMF. They had a milder form of disease, with less frequent peritonitis and pleuritis. The response to colchicine treatment was good. Clinicians should consider FMF for patients with unexplained recurrent febrile episodes, regardless of age.