Thrombophilia is a disease caused by congenital or acquired defects in blood clotting processes. They lead to an increased predisposition to the development of thrombosis. The most common cause of acquired thrombophilia is antiphospholipid syndrome. Congenital thrombophilia is a collective name for a group of diseases that are characterized by disorders in blood clotting processes. These include mutations in factor V Leiden and prothrombin, as well as defects in endogenous anticoagulants, antithrombin, protein C, and protein S.
Thrombophilias are considered to be one of the causes of failure to conceive or the normal course of pregnancy. Studies have shown that this disease leads to an increased risk of miscarriage. The reasons for this are mutations in factor V Leiden, as well as protein S deficiency. On the other hand, protein C deficiency has not been identified as a cause of recurrent miscarriages. A late abortion is one that occurs after 13 weeks of gestation. Mutations in factor V have been found to cause both early and late miscarriages.
Multiple studies have traced the importance of thrombophilia to the development of preeclampsia. The results showed that mutations in prothrombin contribute to the development of moderate to severe forms of preeclampsia, while mutations in factor V lead to severe forms of the condition. On the other hand, protein C, protein S, and antithrombin deficiency were not associated with an increased risk of developing preeclampsia. In patients with thrombophilia, there is an increased risk of developing preeclampsia already in the early stages of pregnancy, as well as a predisposition to disseminated intravascular coagulopathy. In affected patients, there is also an increased risk of re-development of pre-eclampsia in subsequent pregnancies.
Treatment of the condition is based on the use of antithrombotic agents, the aim of which is to increase the frequency of live births and improve the course of pregnancy in patients with congenital thrombophilia. A key element is the prevention of venous thrombosis since pregnancy itself is a condition characterized by hypercoagulability. In many cases, in order to ensure a normal course of the first three months of pregnancy, treatment with heparins is necessary to start immediately after confirmation of pregnancy. Depending on the goals of the treatment – prevention of preeclampsia, late abortions, or other complications, it may begin at a different stage. A key element is regular follow-up and consultation with specialists to monitor the normal development of the placenta and avoid the risk of bleeding.