What thrombophilias are
Thrombophilia is an increased tendency of the blood to form clots. It is not a single disease but a group of conditions that upset the balance between clot formation and clot breakdown. Having a thrombophilia does not mean you will develop a thrombosis. It means the risk is higher, particularly when other factors are added.
Inherited and acquired
- Inherited: due to genetic mutations passed on from the parents. The commonest include factor V Leiden, the prothrombin mutation, and deficiencies of antithrombin, protein C and protein S.
- Acquired: these develop during life. The most important in gynecology is antiphospholipid syndrome, an autoimmune disease associated both with thrombosis and with complications of pregnancy.
Why it matters in gynecology
Certain ordinary situations in a woman's life increase the clotting tendency of the blood by themselves. When a thrombophilia is also present, the combination matters:
- Taking hormonal contraceptives that contain estrogen.
- Hormone replacement therapy at the menopause.
- Pregnancy, and particularly the postpartum period.
- Assisted reproduction treatments.
- Immobility after surgery or during long journeys.
When testing is recommended
Thrombophilia testing is not a routine investigation and there is no point in doing it indiscriminately. It is considered when there is:
- A personal history of venous thrombosis or pulmonary embolism, particularly at a young age or with no obvious trigger.
- A thrombosis that occurred while taking contraceptives, during pregnancy or in the postpartum period.
- A family history of thrombophilia or thromboembolic disease in a first-degree relative.
- A history of recurrent miscarriage or of serious complications in a previous pregnancy.
What a positive result means
A positive finding does not automatically lead to treatment. It leads to planning: reviewing your contraceptive method, preventive measures during periods of increased risk and, in specific cases, anticoagulation — always in collaboration with a hematologist. Management during pregnancy is described in the Thrombophilia section under Obstetrics.