Abstract：
Coagulation factor V (FV) is both procoagulant and anticoagulant functions. Congenital FV abnormality, which are caused by mutations in the FV gene, are characterized by a tendency to bleed. However, FV-R506Q (FVLeiden) is the most common FV abnormality that eliminates an activated protein C (APC) cleavage site, resulting in the occurrence of deep venous thrombosis (DVT). In Japan, the thrombotic predisposition caused by FVLeiden and FV molecular abnormalities was believed to be nonexistent. We did, however, report the first case in Japan of a young patient with FV abnormality-related thrombosis. The recurrent DVT in this case was caused by a novel mutation of FV-W1920R (FVNara), located in the C1 domain and far from the APC cleavage sites. We considered the possibility that there were cases of FV-related thrombotic predisposition that had gone undetected in Japan. We thoroughly examined FV-related anticoagulant function to understand the pathogenesis of thrombosis caused by FV abnormality. Furthermore, using recombinant thrombomodulin, we successfully developed a novel assay with clot waveform analysis for the rapid detection of FV deficiency with APC resistance. Other FV abnormality-related thrombosis has been reported in Japan in recent years, and we hope to further clarify the FV-related thrombotic predisposition in the future.
摘要：
凝血因子V(FV)兼有促凝和抗凝功能。先天性FV异常,是由FV基因突变引起的，有出血倾向.然而,FV-R506Q（FVLeiden）是最常见的FV异常，可消除活化蛋白C（APC）切割位点，导致深静脉血栓(DVT)的发生。在日本,由FVLeiden和FV分子异常引起的血栓形成倾向被认为是不存在的.我们做到了,然而,报告了日本首例FV异常相关血栓形成的年轻患者。在这种情况下，复发性DVT是由FV-W1920R（FVNara）的新突变引起的，位于C1结构域，远离APC切割位点。我们考虑了在日本未被发现的与FV相关的血栓形成易感性病例的可能性。我们彻底检查了FV相关的抗凝功能，以了解FV异常引起的血栓形成的发病机制。此外，使用重组血栓调节蛋白，我们成功开发了一种新的检测方法，该方法具有凝块波形分析，用于快速检测具有APC抗性的FV缺乏症。近年来，日本也报道了其他FV异常相关的血栓形成，我们希望在未来进一步阐明FV相关的血栓易感性。
