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Semin Thromb Hemost 2007; 33(6): 573-581
DOI: 10.1055/s-2007-985753
Copyright © 2007 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA.

Thrombophilia and Venous Thromboembolism: Implications for Testing

Danny M. Cohn1 , Sara Roshani1 , Saskia Middeldorp2
  • 1Academic Medical Center, Department of Vascular Medicine, Amsterdam, The Netherlands
  • 2Department of Clinical Epidemiology and Department of General Internal Medicine, Leiden University Medical Center, Leiden, The Netherlands
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Publication History

Publication Date:
04 September 2007 (online)

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ABSTRACT

In the last decades, the knowledge on the etiology of venous thromboembolism (VTE) has increased tremendously. In approximately half of patients presenting with VTE, one or more thrombophilic defects can be identified. This has led to widespread testing for thrombophilia, despite the fact that, at present, it is unclear whether this should have therapeutic consequences. Here we review the currently established hereditary and acquired thrombophilic defects, and focus on the pros and cons of testing in the setting of VTE.

Thrombophilia is defined as a disorder associated with an increased tendency to venous thromboembolism (VTE). Thrombophilia can be acquired, such as in patients with cancer, or congenital, in which case a defect in the coagulation system is hereditary. Egeberg was the first to use the term thrombophilia in 1965, when he described a Norwegian family that had a remarkable tendency to VTE, based on a deficiency of antithrombin.[1] Since then, various laboratory abnormalities, both hereditary and acquired, have been discovered that increase the risk of VTE. This article reviews the currently established thrombophilic abnormalities and discusses the potential usefulness and implications of testing for thrombophilia.

KEYWORDS

Thrombophilia - venous thromboembolism - testing

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S. MiddeldorpM.D. Ph.D. 

Department of Clinical Epidemiology

C9-P, Leiden University Medical Center, P.O. Box 9600, 3500 RC Leiden, The Netherlands

Email: s.middeldorp@lumc.nl