Inherited Thrombophilia: Implications for Prevention and Treatment of Venous Thromboembolism

Antonio Coppola; Antonella Tufano; Anna Maria Cerbone; Giovanni Di Minno

doi:10.1055/s-0029-1242722

Seminars in Thrombosis and Hemostasis, Table of Contents

Semin Thromb Hemost 2009; 35(7): 683-694
DOI: 10.1055/s-0029-1242722

Inherited Thrombophilia: Implications for Prevention and Treatment of Venous Thromboembolism

Antonio Coppola¹ , Antonella Tufano¹ , Anna Maria Cerbone¹ , Giovanni Di Minno¹

¹Department of Clinical and Experimental Medicine, Regional Reference Centre for Coagulation Disorders, Federico II University, Naples, Italy

Abstract

ABSTRACT

Inherited thrombophilia, defined as a genetically determined tendency to develop venous thromboembolism (VTE), contributes to the pathogenesis of ~40% of VTE episodes. About 50% of carriers of inherited thrombophilic traits develop VTE, but the impact of the different abnormalities is variable in terms of clinical penetrance. Some rare abnormalities (natural anticoagulant deficiencies, homozygous factor V Leiden, and combined defects) result in more severe thrombophilic phenotypes, characterized by early-onset events, more frequent recurrence, and positive family history, whereas the common polymorphisms (heterozygous factor V Leiden and prothrombin G20210A) are associated with lower VTE risk, often in association with triggering risk factors. Therefore, clinical implications of inherited thrombophilia should be assessed in the framework of coexisting and/or circumstantial risk factors involved in the multifactorial pathogenesis of VTE. These considerations should be taken into account when assessing the need and modalities of primary and secondary thromboprophylaxis in patients carrying inherited thrombophilic traits.

KEYWORDS

Antithrombotic treatment - thrombophilia - thromboprophylaxis - risk factors - venous thromboembolism - review

Full Text

References

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Antonio CoppolaM.D.

Regional Reference Centre for Coagulation Disorders, Federico II University

Via S. Pansini, 5 - 80131 Naples, Italy

Email: antocopp@unina.it