Genetic risk factors for thrombosis and pregnancy complications

Thromboembolism is a multicausal disease in which both acquired and genetic risk factors play a role and their interaction is common. Inherited thromb ophilia is now demonstrated to be a multigenic disease; the most common gen etic risk factors are the factor V Leiden and the prothrombin mutations. Pr ior to the discovery of these mutations, three less common genetic risk fac tors had been reported in thrombophilia families: antithrombin, protein C, and protein S deficiencies. Dysfibrinogenemias are the least common causes of inherited thrombophilia. The inherent pregnancy-associated risk of venou s thrombosis is further increased in women with inherited thrombophilia res ulting in higher incidence of thromboembolic complications during pregnancy and the puerperium and also higher incidence of early and late fetal loss, fetal growth retardation, preeclampsia, and abruptio placentae. Testing fo r the genetic risk factors can identify women at risk, allows for risk stra tification of patients, and has become an integral part of management and p revention of thrombotic complications of pregnancy.