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

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 advic...

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Detalles Bibliográficos
Autores principales: Sueta, Daisuke, Ito, Miwa, Uchiba, Mitsuhiro, Sakamoto, Kenji, Yamamoto, Eiichiro, Izumiya, Yasuhiro, Kojima, Sunao, Kaikita, Koichi, Shinriki, Satoru, Hokimoto, Seiji, Matsui, Hirotaka, Tsujita, Kenichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5348750/
https://www.ncbi.nlm.nih.gov/pubmed/28293147
http://dx.doi.org/10.1186/s12959-017-0132-6
Descripción
Sumario: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.

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