Martinelli I, Sacchi E, Landi G, Taioli E, Duca F, Mannucci P M
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Istituto di Ricovero e Cura a Carattere Scientifico Maggiore Hospital, University of Milan, Italy.
N Engl J Med. 1998 Jun 18;338(25):1793-7. doi: 10.1056/NEJM199806183382502.
Idiopathic cerebral-vein thrombosis can cause serious neurologic disability. We evaluated risk factors for this disorder, including genetic risk factors (mutations in the genes encoding factor V and prothrombin) and nongenetic risk factors (such as the use of oral contraceptive agents). We compared the prevalence of these risk factors in 40 patients with cerebral-vein thrombosis, 80 patients with deep-vein thrombosis of the lower extremities, and 120 healthy controls. The G1691A mutation in the factor V gene and the G20210A prothrombin-gene mutation, which are established genetic risk factors for venous thrombosis, were studied. We also assessed the use of oral contraceptives and other risk factors for thrombosis.
The prevalence of the prothrombin-gene mutation was higher in patients with cerebral-vein thrombosis (20 percent) than in healthy controls (3 percent; odds ratio, 10.2; 95 percent confidence interval, 2.3 to 31.0) and was similar to that in patients with deep-vein thrombosis (18 percent). Similar results were obtained for the mutation in the factor V gene. The use of oral contraceptives was more frequent among women with cerebral-vein thrombosis (96 percent) than among controls (32 percent; odds ratio, 22.1; 95 percent confidence interval, 5.9 to 84.2) and among those with deep-vein thrombosis (61 percent; odds ratio, 4.4; 95 percent confidence interval, 1.1 to 17.8). For women who were taking oral contraceptives and who also had the prothrombin-gene mutation (seven patients with cerebral-vein thrombosis but only one control), the odds ratio for cerebral-vein thrombosis rose to 149.3 (95 percent confidence interval, 31.0 to 711.0).
Mutations in the prothrombin gene and the factor V gene are associated with cerebral-vein thrombosis. The use of oral contraceptives is also strongly and independently associated with the disorder. The presence of both the prothrombin-gene mutation and oral-contraceptive use raises the risk of cerebral-vein thrombosis further.
特发性脑静脉血栓形成可导致严重的神经功能障碍。我们评估了这种疾病的危险因素，包括遗传危险因素（编码因子V和凝血酶原的基因突变）和非遗传危险因素（如口服避孕药的使用）。我们比较了40例脑静脉血栓形成患者、80例下肢深静脉血栓形成患者和120名健康对照者中这些危险因素的患病率。研究了因子V基因中的G1691A突变和凝血酶原基因突变G20210A，这两种突变是已确定的静脉血栓形成的遗传危险因素。我们还评估了口服避孕药的使用情况以及其他血栓形成的危险因素。
凝血酶原基因突变在脑静脉血栓形成患者中的患病率（20%）高于健康对照者（3%；比值比，10.2；95%可信区间，2.3至31.0），与下肢深静脉血栓形成患者的患病率（18%）相似。因子V基因突变也得到了类似的结果。脑静脉血栓形成女性中口服避孕药的使用率（96%）高于对照组（32%；比值比，22.1；95%可信区间，5.9至84.2）和下肢深静脉血栓形成女性（61%；比值比，4.4；95%可信区间，1.1至17.8）。对于正在服用口服避孕药且同时有凝血酶原基因突变的女性（7例脑静脉血栓形成患者，但只有1例对照者），脑静脉血栓形成的比值比升至149.3（95%可信区间，31.0至711.0）。
凝血酶原基因和因子V基因突变与脑静脉血栓形成有关。口服避孕药的使用也与该疾病密切且独立相关。凝血酶原基因突变和口服避孕药的同时存在会进一步增加脑静脉血栓形成的风险。
