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Semin Thromb Hemost 2006; 32(7): 700-708
DOI: 10.1055/s-2006-951298
Copyright © 2006 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA.

Inherited Thrombophilia and Venous Thromboembolism

Paolo Simioni1 , Daniela Tormene1 , Luca Spiezia1 , Giulio Tognin1 , Valeria Rossetto1 , Claudia Radu1 , Paolo Prandoni1
  • 1Department of Medical and Surgical Sciences, University of Padua, Medical School, Padua, Italy
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Publication History

Publication Date:
06 October 2006 (online)

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ABSTRACT

The term thrombophilia includes any inherited and acquired disorders associated with an increased tendency to venous thromboembolism (VTE). Inherited thrombophilia is one of the main determinants of VTE, and the presence of inherited thrombophilic defects exposed carriers to increased risks for VTE compared with noncarriers. There is no clear relationship between clinical manifestations and the type of underlying thrombophilic defect. Thus, the diagnosis of inherited thrombophilia has to be established on a laboratory basis. Carriers of thrombophilic defects may experience thrombosis at a younger age than noncarriers. However, a first thrombotic manifestation that occurs late in life may also be an expression of thrombophilia and this remains in many cases the only etiopathogenetic explanation for the event. Screening of family members of symptomatic probands has the potential to identify still asymptomatic carriers who may benefit from more appropriate thromboprophylaxis during high-risk situations for VTE. Women of fertile age who belong to these thrombophilic families might receive the greatest advantage from screening. Many inherited thrombophilic disorders can be considered risk factors for recurrent VTE, especially if more than one defect is present in the same patient. More intensive or prolonged duration of VTE treatment might be requested for the prevention of recurrent VTE in the most severe thrombophilic conditions. The availability of new methods for the assessment of thrombin generation in terms of endogenous thrombin potential are very promising tools for the identification of those carriers of inherited thrombophilia who will develop thrombosis or who will encounter recurrence of VTE.

KEYWORDS

Inherited thrombophilia - genetic defects - acquired risk factors - recurrent venous thromboembolism (VTE) - laboratory screening - prophylaxis of VTE

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 Prof.
Paolo SimioniM.D. Ph.D. 

Department of Medical and Surgical Sciences, 2nd Chair of Internal Medicine, University of Padua Medical School

via Ospedale 105, 35100 Padua, Italy

Email: paolo.simioni@unipd.it