日本一例因凝血因子V Leiden导致的肺血栓栓塞症——下一代测序的实用性
A case of pulmonary thromboembolism due to coagulation factor V Leiden in Japan ~ usefulness of next generation sequencing~.
作者信息
Sueta Daisuke, Ito Miwa, Uchiba Mitsuhiro, Sakamoto Kenji, Yamamoto Eiichiro, Izumiya Yasuhiro, Kojima Sunao, Kaikita Koichi, Shinriki Satoru, Hokimoto Seiji, Matsui Hirotaka, Tsujita Kenichi
机构信息
Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kumamoto University, 1-1-1, Honjo, Chuo-ku, Kumamoto, 860-8556 Japan.
Blood Transfusion and Cell Therapy, Kumamoto University Hospital, Kumamoto, Japan.
出版信息
Thromb J. 2017 Mar 14;15:8. doi: 10.1186/s12959-017-0132-6. eCollection 2017.
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.
背景
由于凝血因子V R506Q（FV莱顿）突变引起的静脉血栓栓塞症（VTE）在白种人中较为常见，日本尚未有VTE发病的报道。
病例报告
一名来自北非的34岁男性突发呼吸困难，前往医院咨询。患者右腿疼痛，血浆D-二聚体水平升高。增强计算机断层扫描显示双侧肺动脉和右下肢有造影剂充盈缺损。患者被诊断为VTE，并开始抗凝治疗。我们的靶向基因panel测序显示，VTE的发生归因于FV莱顿突变的存在。
结论
这是日本首例证明由FV莱顿突变引起的VTE的报告。
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