Rosendorff Adam, Dorfman David M
Department of Pathology, Brigham and Women's Hospital, Boston, Mass 02115, USA.
Arch Pathol Lab Med. 2007 Jun;131(6):866-71. doi: 10.5858/2007-131-866-APCRAF.
Factor V Leiden (FVL) is the most common heritable cause of venous thrombosis. It is caused by a single nucleotide substitution resulting in an R506Q missense mutation, resulting in factor V resistance to activated protein C (APC) inactivation. Carriers of FVL have an increased susceptibility to venous thrombosis, which is further increased in the presence of other genetic or environmental risk factors.
To review the biology, clinical findings, laboratory detection methods, and screening recommendations for patients with the FVL mutation.
PubMed review of published literature and online information.
FVL remains an important heritable cause of hypercoagulability since its discovery more than 10 years ago. Clinical suspicion should be high in cases of unexplained venous thrombosis. APC resistance and FVL mutation can be diagnosed with high sensitivity and specificity with use of clotting time-based functional assays and genetic assays, respectively, allowing for evidence-guided clinical decision making regarding the benefit of long-term anticoagulation.
因子V莱顿突变（FVL）是静脉血栓形成最常见的遗传性病因。它由单个核苷酸替换导致R506Q错义突变引起，致使因子V对活化蛋白C（APC）灭活产生抵抗。FVL携带者发生静脉血栓形成的易感性增加，在存在其他遗传或环境危险因素时这种易感性会进一步增加。
综述FVL突变患者的生物学特性、临床发现、实验室检测方法及筛查建议。
对已发表文献的PubMed综述及在线信息。
自10多年前发现以来，FVL仍然是高凝状态的一个重要遗传性病因。对于不明原因的静脉血栓形成病例，临床应高度怀疑。分别使用基于凝血时间的功能测定和基因检测，可高灵敏度和特异性地诊断APC抵抗和FVL突变，从而为关于长期抗凝益处的循证临床决策提供依据。
