A case of pulmonary thromboembolism due to coagulation factor V Leiden in Japan ~ usefulness of next generation sequencing~

Thrombosis Journal

Case Report

Mitsuhiro Uchiba¹  Sunao Kojima²  Yasuhiro Izumiya²  Kenji Sakamoto²  Daisuke Sueta²  Kenichi Tsujita²  Eiichiro Yamamoto²  Miwa Ito²  Seiji Hokimoto²  Koichi Kaikita²  Hirotaka Matsui³  Satoru Shinriki³ 

[1] Blood Transfusion and Cell Therapy, Kumamoto University Hospital, Kumamoto, Japan;Department of Molecular Laboratory Medicine Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan;Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kumamoto University, 1-1-1, Honjo, Chuo-ku, 860-8556, Kumamoto, Japan;Department of Molecular Laboratory Medicine Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan;

关键词: Thromboembolism;    Leiden mutation;    Next generation sequencer;   

DOI  :  10.1186/s12959-017-0132-6

 received in 2017-01-19, accepted in 2017-03-07,  发布年份 2017

来源: Springer

【 摘 要 】

BackgroundBecause 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 presentationA 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.ConclusionsThis is the first report demonstrating VTE caused by the FV Leiden mutation in Japan.

【 授权许可】

CC BY   
© The Author(s). 2017