Title |
A case of pulmonary thromboembolism due to coagulation factor V Leiden in Japan ~ usefulness of next generation sequencing~
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Published in |
Thrombosis Journal, March 2017
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DOI | 10.1186/s12959-017-0132-6 |
Pubmed ID | |
Authors |
Daisuke Sueta, Miwa Ito, Mitsuhiro Uchiba, Kenji Sakamoto, Eiichiro Yamamoto, Yasuhiro Izumiya, Sunao Kojima, Koichi Kaikita, Satoru Shinriki, Seiji Hokimoto, Hirotaka Matsui, Kenichi Tsujita |
Abstract |
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. 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. This is the first report demonstrating VTE caused by the FV Leiden mutation in Japan. |
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