Clinical Genetics Unit, Molecular Biology and Biotechnology Department, Atomic Energy Commission of Syria, POBox 6091, Damascus, Syria.
Mol Biol Rep. 2011 Mar;38(3):2033-6. doi: 10.1007/s11033-010-0326-5. Epub 2010 Sep 16.
Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of febrile peritonitis, pleuritis and synovitis. Arthritis is a common and important feature of FMF. The clinical spectrum of arthritis in 71 FMF patients was retrospectively investigated. Mutations in the familial Mediterranean (MEFV) gene were screened. Unlike the previous reports on arthritis of FMF, most of the FMF patients (59%) in this study had symmetric two-joint arthritis whereas monoarticular, oligoarticular and polyarticular arthritis was presented in 20, 8 and 10% of the patients, respectively. Knees were affected in 45 (63%) patients, ankles in 30 (42%), elbows in 11 (15%), wrists in 12 (17%), hips in 12 (17%), small joints of the hands 7 (10%), small joints of the feet 2 (3%) and sacroiliac in 1 (1%). Destruction of the hip was observed in 2 (3%) patients and required hip replacement. Amyloidosis developed in 2 (3%) of our patients. Mutations in the MEFV gene were identified in 50 (71%) patients and the most dominant mutation detected was M694V (64%). Since FMF can be diagnosed by a simple DNA mutation analysis, all arthritis patients of certain origins (Arabs, Turks, Armenians and Jews) should be tested for FMF in order to prevent the complications (amyloidosis and protracted arthritis) by introducing colchicine which is the treatment of choice for FMF.
家族性地中海热（FMF）是一种常染色体隐性遗传病，其特征为反复发作的发热性腹膜炎、胸膜炎和滑膜炎。关节炎是 FMF 的常见且重要的特征。本研究回顾性调查了 71 例 FMF 患者的关节炎临床谱。筛选家族性地中海热（MEFV）基因突变。与以前关于 FMF 关节炎的报道不同，本研究中大多数 FMF 患者（59%）为对称性双关节关节炎，而单关节炎、寡关节炎和多关节炎分别占 20%、8%和 10%。45 例（63%）患者膝关节受累，30 例（42%）踝关节受累，11 例（15%）肘关节受累，12 例（17%）腕关节受累，12 例（17%）髋关节受累，7 例（10%）手部小关节受累，2 例（3%）足部小关节受累，1 例（1%）骶髂关节受累。2 例（3%）患者髋关节破坏，需行髋关节置换术。我们的 2 例（3%）患者发生淀粉样变性。在 50 例（71%）患者中发现 MEFV 基因突变，最常见的突变是 M694V（64%）。由于 FMF 可通过简单的 DNA 突变分析进行诊断，因此应检测具有特定来源（阿拉伯人、土耳其人、亚美尼亚人和犹太人）的所有关节炎患者的 FMF，以便通过引入秋水仙碱来预防并发症（淀粉样变性和迁延性关节炎），秋水仙碱是 FMF 的首选治疗药物。
