尽管静脉血栓栓塞性疾病有许多危险因素,术语“血栓形成倾向”仅指那些导致血栓形成风险增加的家族性或获得性止血系统疾病。遗传性血栓性疾病包括抗凝血酶III缺乏症,对活化蛋白C(因子V莱顿)的抗性,蛋白C和蛋白S缺乏以及一些罕见形式的纤溶酶原异常血症。其他遗传性疾病也可能导致血栓形成。相比之下,当使用上述定义时,抗磷脂综合征是唯一真正的获得性血栓性状态。年轻时患有血栓栓塞性疾病且无诱发事件或有阳性家族史或血栓形成涉及异常部位的患者应进行血栓形成倾向调查。确定为具有与血栓形成倾向相关的实验室异常的患者的管理将取决于多种因素,例如患者的个体和家族血栓形成史,血栓形成的部位和其他血栓前危险因素的存在。在妊娠和产褥期使用预防性抗凝药物需要在有血栓性的妇女中特别仔细考虑。随着对血栓性疾病的更多了解,将有可能制定更精确的指南来管理这些疾病。
Although there are numerous risk factors for venous thromboembolic disease, the term \'thrombophilia\' refers only to those familial or acquired disorders of the haemostatic system that result in an increased risk of thrombosis. The inherited thrombophilias include antithrombin III deficiency, resistance to activated protein C (factor V Leiden), protein C and protein S deficiencies as well as some rare forms of dysfibrinogenaemia. It is possible that other inherited conditions might also predispose to thrombosis. In contrast, when using the above definition, the antiphospholipid syndrome is the only genuine acquired thrombophilic state. Patients who have thromboembolic disease at a young age with no provoking event or who have a positive family history or whose thrombosis involves an unusual site should be investigated for thrombophilia. The management of a patient identified as having a laboratory abnormality associated with thrombophilia will depend on a variety of factors such as the patient\'s individual and family thrombotic history, the site of the thrombosis and the presence of other prothrombotic risk factors. The use of prophylactic anticoagulation during pregnancy and the puerperium requires particularly careful consideration in thrombophilic women. As more becomes known about the thrombophilias it will become possible to formulate more exact
guidelines as to the management of these conditions.