An Overview of Thrombophilia and Associated Laboratory Testing
An Overview of Thrombophilia and Associated Laboratory Testing
复制标题
DOI：
10.1007/978-1-4939-7196-1_9
复制
发表时间：
2017-01-01
期刊：
影响因子：
--
通讯作者：
Danese, Elisa
中科院分区：
文献类型：
--
作者：
Montagnana, Martina;Lippi, Giuseppe;Danese, Elisa
静脉血栓栓塞通常会导致深静脉血栓形成、肺栓塞或两者兼而有之，是一种复杂的多因素疾病，其中许多假定条件相互作用，最终导致个体风险超过一定程度，最终导致静脉闭塞性疾病的发展。血栓形成倾向通常被定义为由于遗传性或获得性凝血或纤维蛋白溶解疾病而导致潜在的高凝状态，从而形成静脉血栓栓塞的倾向。血栓形成倾向病症通常分为遗传性（或基因决定）和获得性。前者包括天然抗凝剂的缺乏，例如抗凝血酶、蛋白C、蛋白S、凝血因子（尤其是因子VIII）值增加，以及编码因子V（即因子V Leiden）和凝血酶原的基因中的促血栓多态性。后者主要包括抗磷脂抗体综合征、恶性肿瘤、获得性凝血因子升高或获得性天然抑制剂减少或高同型半胱氨酸血症。加深对所有潜在危险因素的了解，并清楚地了解它们在静脉血栓形成病理生理学中的作用，对于帮助更快、更有效地诊断这种疾病以及更有效地预防高风险患者和治疗患有明显疾病的患者至关重要。
Venous thromboembolism, usually entailing deep vein thrombosis, pulmonary embolism, or both, is a complex and multifactorial disorder, in which a number of putative conditions interplay and finally contribute to propel the individual risk over a certain degree, so ultimately culminating in the development of venous occlusive disorders. Thrombophilia is commonly defined as a propensity to develop venous thromboembolism on the basis of an underlying hypercoagulable state attributable to inherited or acquired disorders of blood coagulation or fibrinolysis. The thrombophilic conditions are conventionally classified as inherited (or genetically determined) and acquired. The former include deficiencies of natural anticoagulants such as antithrombin, protein C, protein S, increased values of clotting factors (especially factor VIII), as well as prothrombotic polymorphisms in genes encoding for factor V (i.e., factor V Leiden) and prothrombin. The latter conditions mainly entail antiphospholipid antibody syndrome, malignancy, acquired elevations of coagulation factors or acquired reduction of natural inhibitors, or hyperhomocysteinemia. Deepened knowledge of all potential risk factors, as well as the clear understanding of their role in the pathophysiology of venous thrombosis, are both essential to help achieve a faster and more efficient diagnosis of this condition as well as a more effective prophylaxis of patients at higher risk and treatment of those with manifest disease.