Yasar Bilge Nazife Sule, Sari Ismail, Solmaz Dilek, Senel Soner, Emmungil Hakan, Kilic Levent, Yilmaz Oner Sibel, Yildiz Fatih, Yilmaz Sedat, Ersozlu Bozkirli Duygu, Aydin Tufan Muge, Yilmaz Sema, Yazisiz Veli, Pehlivan Yavuz, Bes Cemal, Yildirim Cetin Gozde, Erten Sukran, Gonullu Emel, Sahin Fezan, Akar Servet, Aksu Kenan, Kalyoncu Umut, Direskeneli Haner, Erken Eren, Sayarlioglu Mehmet, Cınar Muhammed, Kasifoglu Timucin
Division of Rheumatology, Department of Internal Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.
Division of Rheumatology, Department of Internal Medicine, Dokuz Eylul University, Izmir, Turkey.
Int J Rheum Dis. 2018 Apr;21(4):880-884. doi: 10.1111/1756-185X.13259. Epub 2018 Jan 5.
Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. One of the common characteristics of this disease is its young age predominance. Nearly 90% of patients experience disease flares during early adult age periods. Currently there are limited data for the comparison of early versus late onset FMF and therefore the primary aim of this study was to investigate these two subsets with regard to their certain demographic, clinical and genetic differences.
Early (≤ 20 years, Group 1) and late (> 20 years, Group 2) onset FMF patients were identified from the national FMF registry that involves 2246 patients from 15 adult rheumatology clinics located in different geographical areas of Turkey.
Of the 2246 patients, 1633 (72.7%) were aged ≤ 20 years old (Group 1) and the remaining 613 were older than 20 years (Group 2). Delay in diagnosis was longer in Group 1 and fever, peritonitis, pleuritis, erysipelas-like erythema (ELE), arthritis, family history of FMF and amyloidosis were more common in Group 1. On the other hand, sex distribution, rates of amyloidosis, vasculitis and kidney failure were not different between the groups. Among patients with available genotypes, homozygous and heterozygous M694V mutations were significantly higher and heterozygous E148Q mutation was significantly lower in Group 1 compared to Group 2.
Patients with FMF whose symptoms start before 20 years of age seem to have severe symptoms and M694V mutation may be responsible for the early expression of the disease.
家族性地中海热（FMF）是最常见的自身炎症性疾病。该病的常见特征之一是发病年龄以年轻人为主。近90%的患者在成年早期会出现疾病发作。目前，关于早发型与晚发型FMF比较的数据有限，因此本研究的主要目的是调查这两个亚组在某些人口统计学、临床和基因方面的差异。
从国家FMF登记处识别出早发型（≤20岁，第1组）和晚发型（>20岁，第2组）FMF患者，该登记处涵盖了来自土耳其不同地理区域的15家成人风湿病诊所的2246名患者。
在2246名患者中，1633名（72.7%）年龄≤20岁（第1组），其余613名年龄大于20岁（第2组）。第1组的诊断延迟时间更长，发热、腹膜炎、胸膜炎、丹毒样红斑（ELE）、关节炎、FMF家族史和淀粉样变性在第1组中更常见。另一方面，两组之间的性别分布、淀粉样变性、血管炎和肾衰竭发生率没有差异。在具有可用基因型的患者中，与第2组相比，第1组中纯合和杂合M694V突变显著更高，杂合E148Q突变显著更低。
症状始于20岁之前的FMF患者似乎症状严重，M694V突变可能是该疾病早期表现的原因。
