Georgin-Lavialle S, Hentgen V, Stankovic Stojanovic K, Bachmeyer C, Rodrigues F, Savey L, Abbara S, Conan P-L, Fraisse T, Delplanque M, Rouet A, Sbeih N, Koné-Paut I, Grateau G
Service de médecine interne, centre de référence des maladies auto-inflammatoires et de l'amylose inflammatoire (CEREMAIA), hôpital Tenon, 4, rue de la Chine, 75020 Paris, France; Inserm UMRS_933, hôpital Trousseau, 26, avenue du Dr-Arnold-Netter, 75012 Paris, France; Université Paris 6, Pierre-et-Marie-Curie (UPMC), Assistance publique-Hôpitaux de Paris (AP-HP), Paris, France.
Service de pédiatrie générale, (CEREMAIA), centre hospitalier de Versailles, 179, rue de Versailles, 78150 Le Chesnay, France.
Rev Med Interne. 2018 Apr;39(4):240-255. doi: 10.1016/j.revmed.2018.02.005. Epub 2018 Mar 8.
Familial Mediterranean Fever (FMF) is the most frequent monogenic auto-inflammatory disease. FMF is an autosomal recessive disease, which affects populations from Mediterranean origin and is associated with MEFV gene mutations encoding for the protein pyrin. Pyrin activation enhances the secretion of interleukin 1 by myelo-monocytic cells. Main features of the disease are acute attacks of serositis mainly located on the abdomen, less frequently on chest and joints, accompanied by fever and biological inflammatory markers elevation. Usually attacks last 1 to 3 days and spontaneously stop. A daily oral colchicine intake of 1 to 2mg/day is able to prevent attack's occurrence, frequency, intensity and duration among most patients. Colchicine is also able to prevent the development of inflammatory amyloidosis, the most severe complication of FMF. This state of the art article will focus on the diagnosis of FMF, the treatment and an update on the pathophysiology including the recent described dominant form of MEFV-associated new auto-inflammatory diseases.
家族性地中海热（FMF）是最常见的单基因自身炎症性疾病。FMF是一种常染色体隐性疾病，影响地中海起源的人群，与编码蛋白pyrin的MEFV基因突变有关。Pyrin激活会增强骨髓单核细胞分泌白细胞介素1。该疾病的主要特征是主要位于腹部的浆膜炎急性发作，较少见于胸部和关节，伴有发热和生物炎症标志物升高。通常发作持续1至3天并自行停止。大多数患者每天口服1至2毫克秋水仙碱能够预防发作的发生、频率、强度和持续时间。秋水仙碱还能够预防炎症性淀粉样变性的发展，这是FMF最严重的并发症。这篇综述文章将重点关注FMF的诊断、治疗以及病理生理学的最新进展，包括最近描述的MEFV相关新自身炎症性疾病的显性形式。
