Ng Kay W P, Loh Pei K, Sharma Vijay K
Division of Neurology, Department of Medicine, National University Hospital, 1E, Kent Ridge Road, Singapore 119228.
Stroke Res Treat. 2011 Feb 8;2011:670138. doi: 10.4061/2011/670138.
Our knowledge about various inherited and acquired causes of thrombophilic disorders has increased significantly during the past decade. Technology for various diagnostic tests for these rare disorders has matched the rapid advances in our understanding about the thrombophilic disorders. Inherited thrombophilic disorders predispose young patients for various venous or arterial thrombotic and thromboembolic episodes. Our understanding has also improved about various gene-gene and gene-environment interactions and their impact on the resultant heterogenous clinical manifestations. We describe various thrombophilic disorders, their diagnostic tests, pathogenic potential in isolation or with other concurrent inherited/acquired defects and possible therapeutic and prophylactic strategies. Better understanding, optimal diagnostic and screening protocols are expected to improve the diagnostic yield and help to reduce morbidity, disability, and mortality in relatively younger patients harbouring these inherited and acquired thrombophilic disorders.
在过去十年中，我们对血栓形成倾向疾病的各种遗传和后天病因的认识有了显著提高。针对这些罕见疾病的各种诊断测试技术，已与我们对血栓形成倾向疾病认识的快速进展相匹配。遗传性血栓形成倾向疾病使年轻患者易发生各种静脉或动脉血栓形成及血栓栓塞事件。我们对各种基因-基因和基因-环境相互作用及其对所产生的异质性临床表现的影响的理解也有所提高。我们描述了各种血栓形成倾向疾病、它们的诊断测试、单独存在或与其他并发的遗传/后天缺陷共同存在时的致病潜力，以及可能的治疗和预防策略。更好的理解、优化的诊断和筛查方案有望提高诊断率，并有助于降低患有这些遗传和后天血栓形成倾向疾病的相对年轻患者的发病率、残疾率和死亡率。
