Murin S, Marelich G P, Arroliga A C, Matthay R A
Division of Pulmonary and Critical Care Medicine, University of California, Davis School of Medicine and Department of Veterans Affairs, Northern California System of Clinics, Sacramento, California, USA.
Am J Respir Crit Care Med. 1998 Nov;158(5 Pt 1):1369-73. doi: 10.1164/ajrccm.158.5.9712022.
The hereditary thrombophilias are a group of inherited conditions that predispose to thrombosis. Heritable deficiencies of the endogenous anticoagulants protein C, protein S, and antithrombin have been recognized for some years, but their prevalence, even among patients with familial thrombosis, is low. The recent discoveries of two relatively common thrombophilias, resistance to activated protein C associated with an abnormal factor V gene (factor V Leiden), and prothrombin gene variant 20210A, have substantially increased the likelihood of identifying a heritable predisposing factor in patients with thromboembolism. Modestly elevated levels of plasma homocysteine, which are in part genetically determined, have also recently been associated with an increased risk for venous thromboembolism. A predisposition to thrombosis can now be identified in a substantial minority of patients with venous thromboembolism, and in the majority of patients with familial thrombosis, and there is accumulating evidence that multiple coexisting defects are present in persons with the most marked tendency to thrombosis. The most common causes of hereditary thrombophilia are reviewed with an emphasis on resistance to activated protein C, prothrombin variant 20210A, and hyperhomocystinemia, and the current status of laboratory testing for thrombophilia is discussed.
遗传性血栓形成倾向是一组易导致血栓形成的遗传性疾病。内源性抗凝蛋白C、蛋白S和抗凝血酶的遗传性缺陷已被认识多年，但即使在有家族性血栓形成的患者中，其患病率也较低。最近发现的两种相对常见的血栓形成倾向，即与异常因子V基因（因子V莱顿）相关的活化蛋白C抵抗和凝血酶原基因变异20210A，大大增加了在血栓栓塞患者中识别遗传性易感因素的可能性。血浆同型半胱氨酸水平适度升高，部分由基因决定，最近也与静脉血栓栓塞风险增加有关。现在，在相当一部分静脉血栓栓塞患者以及大多数家族性血栓形成患者中可以识别出血栓形成倾向，并且越来越多的证据表明，血栓形成倾向最明显的人群中存在多种并存缺陷。本文回顾了遗传性血栓形成倾向的最常见原因，重点是活化蛋白C抵抗、凝血酶原变异20210A和高同型半胱氨酸血症，并讨论了血栓形成倾向的实验室检测现状。
