Inherited Thrombophilia and Gestational Venous Thromboembolism

Abstract

Inherited thrombophilias are associated with an increased risk of venous thromboembolism (VTE) and the risk is further increased during pregnancy. However, not all pregnancies or all thrombophilias carry the same risk. Deficiencies in coagulation inhibitors and especially in antithrombin are rare but are associated with a higher risk than the most frequent factor V Leiden or prothrombin (factor II) 20210A mutations. Differences may be observed depending on heterozygosity or homozygosity of the defects and on the presence of combined thrombophilias. Although we now have more information on the global risk of thrombosis in thrombophilia, the magnitude of the risk is unknown in women who do or do not have a history of VTE, and in those who are the propositus or family members. Additional risk factors may be taken into account such as age of the mother, cesarean section, obesity, and immobilization during pregnancy. Recommendations of the American College of Chest Physicians (ACCP) concerning prophylaxis during pregnancy published in 2001 are mostly 1C recommendations; they are based on observational studies and subject to changes when more information becomes available. There is now a consensus about prevention in the postpartum period in women with thrombophilia. In contrast, prophylaxis in the antepartum period is often determined on an individual basis. We give some indications of the appropriate prophylaxis on the basis of the ACCP recommendations and personal experience.

Pregnancy Loss, Polycystic Ovary Syndrome, Thrombophilia, Hypofibrinolysis, Enoxaparin, Metformin

“…As the number of thrombophilic and hypofibrinolytic risk factors increase in a single subject, the likelihood of developing first trimester miscarriage, major complications of pregnancy, and venous thromboembolism is increased (23,24,29,(75)(76)(77)(78)(79). In the current study, cases, characterized by pregnancy loss, were more likely than controls to have heritable thrombophilia (high factor VIII, factor V Leiden heterozygosity) and hypofibrinolysis (4G4G polymorphism of the PAI-1 gene, high PAI-Fx).…”

Acute mesenteric venous thrombosis due to protein S deficiency in a pregnant woman

“…[5][6][7] Women who have protein S deficiency have a 10-30% risk of a thromboembolic event during pregnancy. 8 To our knowledge, this is the first report of mesenteric venous thrombosis diagnosed in a pregnant woman with protein S deficiency.…”

A woman's body and her vascular system are unique. How should we care for them?

“…the hypercoagulable state is of greater help than harm. 28 The antiphospholipid syndrome, however, is a serious hazard, leading to fetal loss early in pregnancy (small thrombi throughout the placenta and impaired placental growth). 29,30 Tissue factor pathway inhibitor levels may also be diminished by the antiphospholipid antibody.…”