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因子 V 莱顿突变和血友病。

Factor V Leiden and hemophilia.

机构信息

Immunohematology and Transfusion Center, Department of Pathology and Laboratory Medicine, University Hospital of Parma, Parma, Italy.

出版信息

Thromb Res. 2010 Feb;125(2):119-23. doi: 10.1016/j.thromres.2009.11.003. Epub 2009 Nov 22.

Abstract

Several inherited prothrombotic risk factors have been identified so far. Among them, the factor V (FV) Leiden mutation causes a reduced ability of activated protein C to inactivate activated FV and is the most frequent genetic predisposing factor for venous thromboembolism. However, the high prevalence of FV Leiden (up to 15%) in the Caucasian population suggests that this mutation might confer an evolutionary survival advantage. Indeed, there is mounting evidence about the role of FV Leiden in modulating the clinical phenotype of some physiological and pathological conditions, including hemophilia. The existing literature on the interaction between FV Leiden and hemophilia-related factor VIII or IX mutations is analyzed in this review focusing on the clinical effects and possible pathogenic mechanisms. In summary, current evidence suggests that this prothrombotic mutation may compensate for the low factor VIII or IX levels, resulting in more efficient thrombin generation and ensuing attenuation of clinical symptoms. On the other hand, the association of this prothrombotic mutation with other acquired or inherited thrombophilic factors might overcome the congenital bleeding tendency in hemophiliacs, thereby increasing the risk of thrombotic complications.

摘要

迄今为止,已经确定了几种遗传性促血栓形成风险因素。其中,FV(因子 V) Leiden 突变导致活化蛋白 C 灭活活化 FV 的能力降低,是静脉血栓栓塞症最常见的遗传易患因素。然而,FV Leiden 在白种人群中的高患病率(高达 15%)表明,这种突变可能赋予了一种进化生存优势。事实上,越来越多的证据表明 FV Leiden 在调节一些生理和病理状况的临床表型方面发挥作用,包括血友病。本综述分析了 FV Leiden 与血友病相关的因子 VIII 或 IX 突变之间相互作用的现有文献,重点关注临床效果和可能的发病机制。总之,目前的证据表明,这种促血栓形成突变可能补偿了因子 VIII 或 IX 水平的降低,导致更有效的凝血酶生成,并随之减轻临床症状。另一方面,这种促血栓形成突变与其他获得性或遗传性血栓形成倾向因素的关联可能会克服血友病患者的先天性出血倾向,从而增加血栓并发症的风险。

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