文章基本信息

标题：A case of pulmonary thromboembolism due to coagulation factor V Leiden in Japan ~ usefulness of next generation sequencing~
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作者：Daisuke Sueta ; Miwa Ito ; Mitsuhiro Uchiba 等
期刊名称：Thrombosis Journal
印刷版ISSN：1477-9560
电子版ISSN：1477-9560
出版年度：2017
卷号：15
期号：1
页码：8
DOI：10.1186/s12959-017-0132-6
语种：English
出版社：BioMed Central
摘要：Background Because the venous thromboembolisms (VTEs) due to the coagulation factor V R506Q (FV Leiden) mutation is often seen in Caucasians, the VTE onset in Japan has not been reported. Case presentation A 34-year-old man from north Africa experiencing sudden dyspnea went to a hospital for advice. The patient had pain in his right leg and a high plasma D-dimer level. A contrast-enhanced computed tomography scan revealed a contrast deficit in the bilateral pulmonary artery and in the right lower extremity. The patient was diagnosed with VTE, and anticoagulation therapy was initiated. Our targeted gene panel sequencing revealed that the occurrence of VTE was attributed to a presence of the FV Leiden mutation. Conclusions This is the first report demonstrating VTE caused by the FV Leiden mutation in Japan.
关键词：Thromboembolism ; Leiden mutation ; Next generation sequencer