Factor V Leiden-independent activated protein C resistance: Communication from the plasma coagulation inhibitors subcommittee of the International Society on Thrombosis and Haemostasis Scientific and Standardisation Committee
Factor V Leiden-independent activated protein C resistance: Communication from the plasma coagulation inhibitors subcommittee of the International Society on Thrombosis and Haemostasis Scientific and Standardisation Committee
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DOI：
10.1016/j.jtha.2022.10.014
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发表时间：
2023-01-10
影响因子：
10.4
通讯作者：
Adcock, Dorothy M.
中科院分区：
文献类型：
--
作者：
Moore, Gary W.;Castoldi, Elisabetta;Adcock, Dorothy M.
由单核苷酸多态性因子V Leiden（FVL）引起的活化蛋白C抵抗（APC-R）是遗传性血栓形成倾向的最常见原因。它主要见于高加索人，在其他人群中不常见或不存在。尽管FVL是>90%的遗传性APC-R病例的原因，但已经描述了许多其他F5变体也赋予不同程度的APC-R和血栓形成风险。由于凝血因子水平升高、抑制剂水平降低或自身抗体的存在，获得性APC-R发生在各种情况下，是血栓形成的独立危险因素。血栓形成倾向筛查方案通常将APC-R的评估限制为证明存在或不存在FVL。本科学和标准化委员会通信的目的是详细说明FVL非依赖性APC-R的原因，以扩大诊断网络，特别是在缺乏FVL的情况下遇到体外APC-R的情况下。前稀释凝血试验不是FVL特异性的，用于检测赋予APC-R的具有临床意义的F5变体，而不同形式的获得性APC-R优先使用经典的基于活化部分凝血活酶时间的APC-R试验检测，而不使用前稀释和/或内源性凝血酶潜能APC-R试验。资源的具体建议，以指导检测FVLindependent APC-R。
Activated protein C resistance (APC-R) due to the single-nucleotide polymorphism factor V Leiden (FVL) is the most common cause of hereditary thrombophilia. It is found predominantly in Caucasians and is uncommon or absent in other populations. Although FVL is responsible for >90% of cases of hereditary APC-R, a number of other F5 variants that also confer various degrees of APC-R and thrombotic risk have been described. Acquired APC-R due to increased levels of coagulation factors, reduced levels of inhibitors, or the presence of autoantibodies occurs in a variety of conditions and is an independent risk factor for thrombosis. It is common for thrombophilia screening protocols to restrict assessment for APC-R to demonstrating the presence or absence of FVL. The aim of this Scientific and Standardisation Committee communication is to detail the causes of FVL-independent APC-R to widen the diagnostic net, particularly in situations in which in vitro APC-R is encountered in the absence of FVL. Predilution clotting assays are not FVL specific and are used to detect clinically significant F5 variants conferring APC-R, whereas different forms of acquired APC-R are preferentially detected using the classical activated partial thromboplastin time-based APC-R assay without predilution and/or endogenous thrombin potential APC-R assays. Resource-specific recommendations are given to guide the detection of FVLindependent APC-R.