A point mutation in the factor V gene (factor V Leiden) is associated with a significant increase in the risk of venous thromboembolism and has been shown to increase the risk of late spontaneous abortion and stillbirth. The role of factor V Leiden in first trimester loss is less clear, with recent studies showing no increased incidence of the mutation in women with early losses. The mutation is present in 5% of normal individuals.
Hyperhomocysteinemia and a factor II (prothrombin) mutation have also been shown to increase the risk of thromboembolism. Both of these have been shown to be found no more commonly in women with RPL than in controls.
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