Ozdogan Huri, Ugurlu Serdal
University of Istanbul-Cerrahpasa, Cerrahpasa Medical Faculty, Division of Rheumatology, Department of Internal Medicine, 34098 Istanbul, Turkey.
University of Istanbul-Cerrahpasa, Cerrahpasa Medical Faculty, Division of Rheumatology, Department of Internal Medicine, 34098 Istanbul, Turkey.
Presse Med. 2019 Feb;48(1 Pt 2):e61-e76. doi: 10.1016/j.lpm.2018.08.014. Epub 2019 Jan 25.
Familial Mediterranean Fever (FMF) is the oldest and the most frequent of all described hereditary periodic fever syndromes. The populations originating from Mediterranean basin carry the highest risk for FMF however it is being increasingly recognized in many parts of the world. It is an autoinflammatory disease with an autosomal recessive transmission. In the majority of the patients it is related with mutations in the MEFV gene that encodes a protein named pyrin. This protein has been shown to act as a regulator of inflammation mediated by IL-1β, which plays a major role in the pathogenesis of FMF. Approximately one-third of the patients have either a single or no mutation which raise questions about its mode of inheritance. FMF is a clinical diagnosis and characterized by self-limited bouts of fever and serositis. The main long-term complication of the disease is AA amyloidosis. The mainstay of treatment is life-long colchicine given daily to prevent the recurrence of febrile attacks and the development of amyloidosis. Patients with insufficient response to colchicine may be treated with anti IL-1 agents.
家族性地中海热（FMF）是所有已描述的遗传性周期性发热综合征中最古老且最常见的一种。源自地中海盆地的人群患FMF的风险最高，不过在世界许多地区，该病越来越受到认可。它是一种常染色体隐性遗传的自身炎症性疾病。在大多数患者中，它与编码一种名为吡啉蛋白的MEFV基因突变有关。该蛋白已被证明可作为由IL-1β介导的炎症调节因子，IL-1β在FMF的发病机制中起主要作用。大约三分之一的患者有单个突变或无突变，这引发了对其遗传模式的质疑。FMF是一种临床诊断疾病，其特征为自限性发热和浆膜炎发作。该病的主要长期并发症是AA型淀粉样变性。治疗的主要方法是每日服用终身剂量的秋水仙碱，以预防发热发作的复发和淀粉样变性的发展。对秋水仙碱反应不足的患者可用抗IL-1药物治疗。
