Genetic Considerations

Coagulopathies such as Factor V Leiden, a thrombophilia that predisposes to venous throm-boembolism and PE due to a very poor response to activated protein C, will increase clot formation in the heterozygote, but homozygotes are most severely affected. Therefore, transmission is both autosomal dominant and autosomal recessive. Testing for Factor V Leiden should be considered when a person has venous thromboembolism (VTE) meeting any of the following criteria: onset before age 50, idiopathic VTE at any age, recurrent VTE, and venous thrombosis at unusual sites (e.g., cerebral, mesenteric, portal, and hepatic veins). Testing has also been recommended when VTE occurs during pregnancy, in the postpartum period, or in association with oral contraceptive use or hormone replacement therapy (HRT). Anyone with a strong family history should also be tested for Factor V Leiden.

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