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Thromb Haemost 1999; 81(03): 345-348
DOI: 10.1055/s-0037-1614474
Review Article
Schattauer GmbH

Is the Prevalence of the Factor V Leiden Mutation in Patients with Pulmonary Embolism and Deep Vein Thrombosis Really Different?

Franktien Turkstra
1   From the Center for Haemostasis, Thrombosis, Atherosclerosis and Inflammation Research, , Amsterdam, The Netherlands
,
Rosa Karemaker
1   From the Center for Haemostasis, Thrombosis, Atherosclerosis and Inflammation Research, , Amsterdam, The Netherlands
,
Philomeen M. M. Kuijer
1   From the Center for Haemostasis, Thrombosis, Atherosclerosis and Inflammation Research, , Amsterdam, The Netherlands
,
Martin H. Prins
2   Department of Clinical Epidemiology and Biostatistics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
,
Harry R. Büller
1   From the Center for Haemostasis, Thrombosis, Atherosclerosis and Inflammation Research, , Amsterdam, The Netherlands
› Author Affiliations
Further Information

Publication History

Received08 April 1998

Accepted after resubmission26 November 1998

Publication Date:
09 December 2017 (online)

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Summary

Introduction. Previous investigations have suggested a lower prevalence of the factor V Leiden mutation in patients with pulmonary embolism, as compared to patients with deep leg vein thrombosis. Methods. We studied unselected patients with pulmonary embolism, in whom we also assessed the presence of deep vein thrombosis by ultra-sonography. We assessed the prevalence of heterozygosity for the factor V Leiden mutation and compared the outcome of patients with a normal ultrasound (primary pulmonary embolism) to those with an abnormal ultrasound (combined form of venous thromboembolism). Furthermore, we performed a literature search to identify all articles regarding the prevalence of heterozygous factor V Leiden mutation in patients with primary deep vein thrombosis, primary pulmonary embolism and a combined form of venous thromboembolism. We calculated a (common) odds ratio for these 3 manifestations of venous thromboembolism, including the current findings. Results. In 92 patients with proven pulmonary embolism, 25 (27%) had also an abnormal ultrasound. In these patients, the prevalence of the factor V Leiden mutation was 24% (95% CI 9%-45%), whereas the mutation was present in 5 of 67 patients with primary pulmonary embolism (7%; 95% CI 2%-16%). The literature analysis indicated the common odds ratio for the presence of heterozygous factor V Leiden mutation in patients with primary deep vein thrombosis, primary pulmonary embolism and the combined form of venous thromboembolism to be 7.9 (95% CI 5-12), 3.5 (95% CI 2-6) and 6.8 (95% CI 3-14), respectively. Conclusion. In patients with primary pulmonary embolism the prevalence of the factor V Leiden mutation appears to be half of that reported in patients with primary deep vein thrombosis. The mechanism remains unclear.

 

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