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

Daisuke Sueta; Miwa Ito; Mitsuhiro Uchiba; Kenji Sakamoto; Eiichiro Yamamoto; Yasuhiro Izumiya; Sunao Kojima; Koichi Kaikita; Satoru Shinriki; Seiji Hokimoto; Hirotaka Matsui; Kenichi Tsujita

doi:10.1186/s12959-017-0132-6

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

Thromb J. 2017 Mar 14:15:8. doi: 10.1186/s12959-017-0132-6. eCollection 2017.

Authors

Affiliations

¹ Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kumamoto University, 1-1-1, Honjo, Chuo-ku, Kumamoto, 860-8556 Japan.
² Blood Transfusion and Cell Therapy, Kumamoto University Hospital, Kumamoto, Japan.
³ Department of Molecular Laboratory Medicine Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.

Abstract

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.

Keywords: Leiden mutation; Next generation sequencer; Thromboembolism.

Publication types

Case Reports