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Sang Thrombose Vaisseaux

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Venous thrombosis and genetic blood clotting anomalies Volume 12, issue 7, Août - Septembre 2000

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  • Page(s) : 426-32
  • Published in: 2000

Venous thromboembolic disease was first studied in thrombophilic families with a deficit in antithrombin, protein C and protein S. The discovery of the Leiden mutation of factor V and factor II confirmed the concept of genetic risk factors and contributed to the search for new gene candidates in proteins implicated in blood clotting. These five genetic abnormalities currently explain 40 to 60% of venous thromboses and pulmonary emboli. Other mutations or polymorphism have been studied with contradictory results and have not shown any strong individual effect. How-ever, these factors could be implicated in complex gene-gene or gene-environment interactions. Tables summarising the different studies named in this article with numbers of cases and main results are accessible on the Internet site: http://www.john-libbey-eurotext.fr/fr/revues/stv/index.htm