Liebman H A, Kashani N, Sutherland D, McGehee W, Kam A L
Division of Hematology, Department of Medicine, University of Southern California School of Medicine, Los Angeles, California, USA.
Gastroenterology. 1998 Oct;115(4):830-4. doi: 10.1016/s0016-5085(98)70253-7.
BACKGROUND & AIMS: Thromboembolic disease is a significant cause of morbidity and mortality in patients with inflammatory bowel disease (IBD). The aim of this study was to determine the incidence and possible association of the factor V Leiden mutation with the development of thrombosis in patients with IBD.
This retrospective study included 11 patients with IBD and arterial or venous thrombosis and 51 patients with IBD and no history of thrombosis who were matched for age, sex, ethnic/racial origin, and type of IBD (controls). The presence of the factor V Leiden mutation was determined by coagulation assay and confirmed by a polymerase chain reaction method.
Four of 11 IBD patients (36%) with thrombosis and 2 of 51 IBD controls (4%) were heterozygotes for the factor V Leiden mutation (relative risk, 14.00; 95% confidence interval, 1.55-169.25; P = 0.009, Fisher exact test). All thrombotic events in the patients with activated protein C resistance were venous with a calculated prevalence of 50% (4 of 8 patients) and a relative risk of venous thrombosis in IBD patients with factor V Leiden of 23 (95% confidence interval, 2-294; P = 0.005).
In patients with IBD, inheritance of the factor V Leiden mutation results in a significant increased risk of venous thrombosis.
血栓栓塞性疾病是炎症性肠病（IBD）患者发病和死亡的重要原因。本研究旨在确定IBD患者中凝血因子V莱顿突变的发生率及其与血栓形成的可能关联。
这项回顾性研究纳入了11例患有IBD且发生动脉或静脉血栓形成的患者，以及51例年龄、性别、种族/民族和IBD类型相匹配但无血栓形成病史的IBD患者（对照组）。通过凝血测定确定凝血因子V莱顿突变的存在，并通过聚合酶链反应方法进行确认。
11例患有血栓形成的IBD患者中有4例（36%）为凝血因子V莱顿突变杂合子，51例IBD对照组中有2例（4%）为凝血因子V莱顿突变杂合子（相对风险为14.00；95%置信区间为1.55 - 169.25；P = 0.009，Fisher精确检验）。活化蛋白C抵抗患者的所有血栓形成事件均为静脉血栓，计算患病率为50%（8例患者中的4例），IBD患者中凝血因子V莱顿导致静脉血栓形成的相对风险为23（95%置信区间为2 - 294；P = 0.005）。
在IBD患者中，凝血因子V莱顿突变的遗传导致静脉血栓形成风险显著增加。
