Gurgey Aytemiz, Balta Gunay, Boyvat Ayse
Department of Pediatric Hematology, Hacettepe University Medical School, Ankara, Turkey.
Blood Coagul Fibrinolysis. 2003 Feb;14(2):121-4. doi: 10.1097/00001721-200302000-00001.
Behcet's disease is a chronic systemic vasculitis with particular systemic features including thrombotic events. The present study was designed to analyse the role of the factor V Leiden and the prothrombin G20210A mutations and plasminogen activator inhibitor-1 4G/5G polymorphism on the thrombotic risk of patients with Behcet's disease. A total of 50 unrelated patients with Behcet's disease (34 male, 16 female) were the subjects of the study. Twenty-seven of 50 patients with a history of thrombosis comprised group 1, and 23 patients with no thrombosis comprised group 2. In group 1, nine of the 27 patients (33%) were found to have the factor V Leiden mutation (7.1% in healthy population), and the 4G/4G genotype was found in 23% of the patients (26% in control). No patient had the prothrombin G20210A mutation (2.2% in healthy control). In group 2, two patients (9%) had the factor V Leiden and one patient (4%) had the prothrombin G20210A mutations. The 4G/4G polymorphism was found in 30.5% of the patients. The differences in the frequencies of factor V Leiden mutation between group 1 and group 2 (odds ratio, 5.3; 95% confidence interval, 1.0-27.5) and between group 1 and the healthy population were statistically significant ( 0.05). No statistically significant association was found for the prothrombin G20210A mutation and the 4G/5G genotype between the two groups or between each group and the healthy population, indicating that the prothrombin G20210A mutation and the 4G/4G polymorphism do not play a role in the development of thrombosis in Behcet's disease. These data suggested that the factor V Leiden mutation might be a risk factor for the development of thrombosis in Behcet's disease patients.
白塞病是一种具有特定全身特征（包括血栓形成事件）的慢性系统性血管炎。本研究旨在分析凝血因子V莱顿突变、凝血酶原G20210A突变以及纤溶酶原激活物抑制剂-1 4G/5G多态性在白塞病患者血栓形成风险中的作用。共有50例无血缘关系的白塞病患者（男性34例，女性16例）作为研究对象。50例患者中，有27例有血栓形成史，组成第1组；23例无血栓形成的患者组成第2组。在第1组中，27例患者中有9例（33%）被发现有凝血因子V莱顿突变（健康人群中为7.1%），23%的患者存在4G/4G基因型（对照组为26%）。没有患者有凝血酶原G20210A突变（健康对照组为2.2%）。在第2组中，2例患者（9%）有凝血因子V莱顿突变，1例患者（4%）有凝血酶原G20210A突变。30.5%的患者存在4G/4G多态性。第1组和第2组之间凝血因子V莱顿突变频率的差异（优势比，5.3；95%置信区间，1.0 - 27.5）以及第1组与健康人群之间的差异具有统计学意义（P < 0.05）。两组之间或每组与健康人群之间，凝血酶原G20210A突变和4G/5G基因型均未发现有统计学意义的关联，这表明凝血酶原G20210A突变和4G/4G多态性在白塞病血栓形成的发展过程中不起作用。这些数据表明，凝血因子V莱顿突变可能是白塞病患者血栓形成的一个危险因素。
