REVIEW – September 2008

Inherited thrombophilia: risks, diagnostics and treatment


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Inherited thrombophilia caused by genetic mutations of the proteins directly involved in the blood coagulation enhancement pathway (factor V Leiden G1691A, prothrombin G20210A and methylenetetrahydrofolate reductase – MTHFR – C677T) increase the risk of thrombosis and embolism.
In women with these gene mutations thromboembolic complications in using oral contraceptive agents or in receiving hormone replacement therapy have been described more often. They also have increased risk of various complications du ring pregnancy (spontaneous abortion, disorders of fetal development and ablatio placentae ante tempus).
Inherited thrombofilia is also frequent reason for embryo implantation failure in IVF treatment. For pregnant women with inhereted thrombophilia, treatment with low molecular heparin is indicated from the first trimester of pregnancy and during 2-3 months of the postpartum period.
Genetic tests for the diagnosis of inherited thrombophilia are available in the laboratory of Nova Vita Clinic in Tallinn.