Dagan Efrat, Baruch Yoav, Fiorilli Massimo, Rozenbaum Michael, Rosner Itzhak, Gershoni-Baruch Ruth
Department of Nursing, University of Haifa, Haifa, Israel.
Genet Test Mol Biomarkers. 2012 Jan;16(1):30-5. doi: 10.1089/gtmb.2011.0096. Epub 2011 Aug 23.
Vasculitis, thrombophlebitis, arterial aneurysms, and occlusions occur in about 25% of patients with Behçet's disease (BD). The common inherited gene defects, factor V (FV) 1691A (Leiden), methylene tetrahydrofolate reductase (MTHFR) 677T, and prothrombin 20210A, are known risk factors for thrombosis. The aim of the study was to evaluate the contribution of these mutations to thrombosis in Israeli patients with BD. Fifty-four patients with BD (n=54; 27 men and 27 women) underwent clinical and genetic evaluation. Most patients (n=43; 79.6%) were of Arab descent (31 sporadic and 12 familial cases from 4 families), and 11 patients (20.4%) were of Jewish descent (all sporadic cases). The FV Leiden mutation was identified in five patients (9.2%), and eight patients were MTHFR 677TT homozygotes (14.8%). None had the 20210A mutant prothrombin allele. No statistical differences between carriers and noncarriers with regards to demographic and disease manifestations were calculated. Arabs were diagnosed earlier than Jewish patients (25.8±11.6 compared with 37.2±10.7, p=0.01, respectively), but Jewish patients had, respectively, more events of deep vein thrombosis (DVT) compared with Arabs (3 of 11, 27.3% and 3 of 43, 7%, p=0.09). Thrombotic events in our patients with BD were not associated with variations in thrombophilic genes.
血管炎、血栓性静脉炎、动脉动脉瘤和闭塞在约25%的白塞病（BD）患者中出现。常见的遗传性基因缺陷，即因子V（FV）1691A（莱顿）、亚甲基四氢叶酸还原酶（MTHFR）677T和凝血酶原20210A，是已知的血栓形成危险因素。本研究的目的是评估这些突变对以色列BD患者血栓形成的影响。54例BD患者（n = 54；27例男性和27例女性）接受了临床和基因评估。大多数患者（n = 43；79.6%）为阿拉伯裔（31例散发病例和来自4个家族的12例家族病例），11例患者（20.4%）为犹太裔（均为散发病例）。在5例患者（9.2%）中鉴定出FV莱顿突变，8例患者为MTHFR 677TT纯合子（14.8%）。无人携带20210A突变凝血酶原等位基因。未计算携带者和非携带者在人口统计学和疾病表现方面的统计学差异。阿拉伯患者的诊断时间早于犹太患者（分别为25.8±11.6和37.2±10.7，p = 0.01），但犹太患者深静脉血栓形成（DVT）事件比阿拉伯患者多（11例中的3例，27.3%和43例中的3例，7%，p = 0.09）。我们的BD患者中的血栓形成事件与易栓基因的变异无关。
