Skip to main content
Top
Published in: Thrombosis Journal 1/2017

Open Access 01-12-2017 | Case report

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

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

Published in: Thrombosis Journal | Issue 1/2017

Login to get access

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.
Literature
1.
go back to reference Takamiya O, Ishida F, Kodaira H, Kitano K. APC-resistance and Mnl I genotype (Gln 506) of coagulation factor V are rare in Japanese population. Thromb Haemost. 1995;74(3):996.PubMed Takamiya O, Ishida F, Kodaira H, Kitano K. APC-resistance and Mnl I genotype (Gln 506) of coagulation factor V are rare in Japanese population. Thromb Haemost. 1995;74(3):996.PubMed
2.
go back to reference Calderwood C, Greer I. The role of factor V Leiden in maternal health and the outcome of pregnancy. Curr Drug Targets. 2005;6:567–76.CrossRefPubMed Calderwood C, Greer I. The role of factor V Leiden in maternal health and the outcome of pregnancy. Curr Drug Targets. 2005;6:567–76.CrossRefPubMed
3.
go back to reference Agnelli G, Buller HR, Cohen A, Curto M, Gallus AS, Johnson M, Masiukiewicz U, Pak R, Thompson J, Raskob GE. Oral apixaban for the treatment of acute venous thromboembolism. N Engl J Med. 2013;2013:799–808.CrossRef Agnelli G, Buller HR, Cohen A, Curto M, Gallus AS, Johnson M, Masiukiewicz U, Pak R, Thompson J, Raskob GE. Oral apixaban for the treatment of acute venous thromboembolism. N Engl J Med. 2013;2013:799–808.CrossRef
4.
go back to reference Cook RM, Rondina MT, Horton DJ. Rivaroxaban for the long-term treatment of spontaneous ovarian vein thrombosis caused by factor V leiden homozygosity. Ann Pharmacother. 2014;48:1055–60.CrossRefPubMed Cook RM, Rondina MT, Horton DJ. Rivaroxaban for the long-term treatment of spontaneous ovarian vein thrombosis caused by factor V leiden homozygosity. Ann Pharmacother. 2014;48:1055–60.CrossRefPubMed
5.
go back to reference Sueta D, Akahoshi R, Okamura Y, Kojima S, Ikemoto, Yamamoto E, Izumiya Y, Tsujita K, Kaikita K, Katabuchi H, Hokimoto S. A case of venous thromboembolism due to oral contraceptive intake and spending nights in a vehicle. Intern Med. 2017;56(4):409–12.CrossRefPubMed Sueta D, Akahoshi R, Okamura Y, Kojima S, Ikemoto, Yamamoto E, Izumiya Y, Tsujita K, Kaikita K, Katabuchi H, Hokimoto S. A case of venous thromboembolism due to oral contraceptive intake and spending nights in a vehicle. Intern Med. 2017;56(4):409–12.CrossRefPubMed
6.
go back to reference Nakashima N, Sueta D, Kanemaru Y, Takashio S, Yamamoto E, Hanatani S, Kanazawa H, Izumiya Y, Kojima S, Kaikita K, Hokimoto S, Tsujita K. Successful treatment of deep vein thrombosis caused by iliac vein compression syndrome with a single-dose direct oral anti-coagulant. Thromb J. 2017;15:4.CrossRefPubMedPubMedCentral Nakashima N, Sueta D, Kanemaru Y, Takashio S, Yamamoto E, Hanatani S, Kanazawa H, Izumiya Y, Kojima S, Kaikita K, Hokimoto S, Tsujita K. Successful treatment of deep vein thrombosis caused by iliac vein compression syndrome with a single-dose direct oral anti-coagulant. Thromb J. 2017;15:4.CrossRefPubMedPubMedCentral
7.
8.
go back to reference Sueta D, Tabata N, Akasaka T, Yamashita T, Ikemoto T, Hokimoto S. The dawn of a new era in onco-cardiology: the Kumamoto classification. Int J Cardiol. 2016;220:837–41.CrossRefPubMed Sueta D, Tabata N, Akasaka T, Yamashita T, Ikemoto T, Hokimoto S. The dawn of a new era in onco-cardiology: the Kumamoto classification. Int J Cardiol. 2016;220:837–41.CrossRefPubMed
9.
go back to reference Sueta D, Kaikita K, Okamoto N, Arima Y, Ishii M, Ito M, Oimatsu Y, Iwashita S, Takahashi A, Nakamura E. A novel quantitative assessment of whole blood thrombogenicity in patients treated with a non-vitamin K oral anticoagulant. Int J Cardiol. 2015;197:98–100.CrossRefPubMed Sueta D, Kaikita K, Okamoto N, Arima Y, Ishii M, Ito M, Oimatsu Y, Iwashita S, Takahashi A, Nakamura E. A novel quantitative assessment of whole blood thrombogenicity in patients treated with a non-vitamin K oral anticoagulant. Int J Cardiol. 2015;197:98–100.CrossRefPubMed
10.
go back to reference Dahlbäck B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci. 1993;90:1004–8.CrossRefPubMedPubMedCentral Dahlbäck B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci. 1993;90:1004–8.CrossRefPubMedPubMedCentral
11.
go back to reference Simioni P, Prandoni P, Lensing AW, Scudeller A, Sardella C, Prins MH, Villalta S, Dazzi F, Girolami A. The risk of recurrent venous thromboembolism in patients with an Arg506 → Gln mutation in the gene for factor V (factor V Leiden). N Engl J Med. 1997;336:399–403.CrossRefPubMed Simioni P, Prandoni P, Lensing AW, Scudeller A, Sardella C, Prins MH, Villalta S, Dazzi F, Girolami A. The risk of recurrent venous thromboembolism in patients with an Arg506 → Gln mutation in the gene for factor V (factor V Leiden). N Engl J Med. 1997;336:399–403.CrossRefPubMed
12.
go back to reference Koster T, Vandenbroucke J, Rosendaal F, de Ronde H, Briët E, Bertina RM. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet. 1993;342:1503–6.CrossRefPubMed Koster T, Vandenbroucke J, Rosendaal F, de Ronde H, Briët E, Bertina RM. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet. 1993;342:1503–6.CrossRefPubMed
13.
14.
go back to reference Kyrle PA, Rosendaal FR, Eichinger S. Risk assessment for recurrent venous thrombosis. Lancet. 2010;376:2032–9.CrossRefPubMed Kyrle PA, Rosendaal FR, Eichinger S. Risk assessment for recurrent venous thrombosis. Lancet. 2010;376:2032–9.CrossRefPubMed
15.
go back to reference Ito M, Kaikita K, Sueta D, Ishii M, Oimatsu Y, Arima Y, Iwashita S, Takahashi A, Hoshiyama T, Kanazawa H. Total Thrombus-Formation Analysis System (T-TAS) can predict periprocedural bleeding events in patients undergoing catheter ablation for atrial fibrillation. J Am Heart Assoc. 2016;5:e002744.CrossRefPubMedPubMedCentral Ito M, Kaikita K, Sueta D, Ishii M, Oimatsu Y, Arima Y, Iwashita S, Takahashi A, Hoshiyama T, Kanazawa H. Total Thrombus-Formation Analysis System (T-TAS) can predict periprocedural bleeding events in patients undergoing catheter ablation for atrial fibrillation. J Am Heart Assoc. 2016;5:e002744.CrossRefPubMedPubMedCentral
17.
go back to reference Jamuar SS, Tan E-C. Clinical application of next-generation sequencing for Mendelian diseases. Hum Genomics. 2015;9:1.CrossRef Jamuar SS, Tan E-C. Clinical application of next-generation sequencing for Mendelian diseases. Hum Genomics. 2015;9:1.CrossRef
18.
go back to reference Liu B, Fang L, Liu F, Wang X, Chen J, Chou K-C. Identification of real microRNA precursors with a pseudo structure status composition approach. PLoS One. 2015;10:e0121501.CrossRefPubMedPubMedCentral Liu B, Fang L, Liu F, Wang X, Chen J, Chou K-C. Identification of real microRNA precursors with a pseudo structure status composition approach. PLoS One. 2015;10:e0121501.CrossRefPubMedPubMedCentral
Metadata
Title
A case of pulmonary thromboembolism due to coagulation factor V Leiden in Japan ~ usefulness of next generation sequencing~
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
Publication date
01-12-2017
Publisher
BioMed Central
Published in
Thrombosis Journal / Issue 1/2017
Electronic ISSN: 1477-9560
DOI
https://doi.org/10.1186/s12959-017-0132-6

Other articles of this Issue 1/2017

Thrombosis Journal 1/2017 Go to the issue