Department of Internal Medicine, Division of Rheumatology, Gazi University, Ankara, Turkey
National Amyloidosis Centre, Royal Free London NHS Foundation Trust and University College London, London, UK
Turk J Med Sci. 2020 Nov 3;50(SI-2):1591-1610. doi: 10.3906/sag-2008-11.
Familial Mediterranean fever (FMF) (OMIM #249100) is the most common hereditary autoinflammatory disease in the world. FMF is caused by gain of function mutations of MEFV gene which encodes an immune regulatory protein, pyrin. Over the last few years, we have witnessed several new developments in the pathogenesis, genetic testing, diagnosis, comorbidities, disease related damage and treatment approaches to FMF. Elucidation of some of the pathogenic mechanisms has led to the discovery of pathways involved in inflammatory, metabolic, cardiovascular and degenerative diseases. The use of next generation sequencing in FMF has revealed many new gene variants whose clinical significance may be clarified by developing functional assays and biomarkers. Clinically, although FMF is considered an episodic disease characterized by brief attacks, recent systematic studies have defined several associated chronic inflammatory conditions. Colchicine is the mainstay of FMF treatment, and interleukin (IL)-1 antagonists are the treatment of choice in refractory or intolerant cases. Experience of IL-1 antagonists, anakinra and canakinumab, is now available in thousands of colchicine resistant or intolerant FMF patients. In this contemporary review, we surveyed current FMF knowledge in the light of these recent advances.
家族性地中海热（FMF）（OMIM#249100）是世界上最常见的遗传性自身炎症性疾病。FMF 是由 MEFV 基因突变引起的，该基因编码一种免疫调节蛋白，pyrin。在过去的几年中，我们见证了 FMF 在发病机制、基因检测、诊断、合并症、疾病相关损害和治疗方法方面的几个新进展。一些发病机制的阐明导致了参与炎症、代谢、心血管和退行性疾病的途径的发现。下一代测序在 FMF 中的应用揭示了许多新的基因变异体，其临床意义可能通过开发功能测定和生物标志物来阐明。临床上，虽然 FMF 被认为是一种以短暂发作为特征的间歇性疾病，但最近的系统研究已经定义了几种相关的慢性炎症性疾病。秋水仙碱是 FMF 的主要治疗药物，白介素（IL）-1 拮抗剂是难治性或不耐受病例的首选治疗药物。IL-1 拮抗剂、阿那白滞素和卡那单抗在数千例对秋水仙碱耐药或不耐受的 FMF 患者中的应用经验现已得到证实。在这篇当代综述中，我们根据这些最新进展调查了当前 FMF 的知识。
