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Thrombophilia test: diagnosis, significance and prevention
Thrombophilia is a pathological condition in which the balance between the blood clotting and anticoagulation systems is disturbed in the body. As a result, the risk of blood clots forming increases, which can lead to dangerous complications: deep vein thrombosis, pulmonary embolism, stroke or heart attack. Often this disease is hereditary and manifests itself in young people, which makes thrombophilia test an important prevention tool.
Why does thrombophilia occur?
Hereditary causes: mutation of the F5 gene (Leiden mutation), mutation of the F2 gene (prothrombin, G20210A), MTHFR gene variants that disrupt folic acid metabolism, PAI-1 mutations that affect blood clot dissolution.
Acquired factors: prolonged immobilization, taking oral contraceptives, pregnancy and the postpartum period, cancer, obesity, smoking, hypertension.
When is a thrombophilia test prescribed?
thrombosis at a young age (up to 40–45 years);
repeated miscarriages or complicated pregnancy;
preparation for IVF;
having close relatives with thrombosis;
stroke or heart attack without obvious risk factors;
planning long-term hormone therapy.
Diagnostic methods
Laboratory studies: coagulogram, D-dimer, antithrombin III, proteins C and S, homocysteine.
Genetic research: F5 (Leiden), F2 (prothrombin G20210A), MTHFR (C677T, A1298C), PAI-1.
Genetic markers of thrombophilia and their clinical significance
| Gene/marker | Pathology | Consequences |
|---|---|---|
| F5 (Leiden) | Decreased sensitivity to activated protein C | Venous thrombosis, PE |
| F2 (prothrombin) | Excess prothrombin | High risk of blood clots |
| MTHFR | Hyperhomocysteinemia | Vascular complications, pregnancy problems |
| PAI-1 | Decreased fibrinolysis | Tendency to repeat thrombosis |
| Antithrombin III | Anticoagulant deficiency | Venous thrombosis at a young age |
Thrombophilia analysis in pregnant women
During pregnancy, the risk of thrombosis increases. Hereditary thrombophilia can lead to miscarriage, preeclampsia, fetal growth retardation, and placental abruption. The test is recommended in cases of miscarriage, planning IVF, and in cases of a family history of thrombosis.
Prevention of thrombosis in thrombophilia
Medication: anticoagulants (low molecular weight heparins), low-dose aspirin as indicated.
Non-medicated: weight control, quitting smoking and alcohol, regular physical activity, avoiding prolonged immobility, wearing compression stockings.
Practical advice for patients
Take a genetic test before planning pregnancy or IVF.
Consultation with a hematologist if there is a family history of thrombosis.
Do not take anticoagulants without a doctor's advice.
When traveling, drink water and move your legs to prevent stagnation.
Follow a diet with folic acid, vitamins B6 and B12.
Thrombophilia testing helps identify the risks of dangerous complications before they develop. This is especially important for women during pregnancy, patients with a family history of thrombosis, and those planning serious medical interventions. Timely diagnosis makes it possible to choose prevention and maintain health.
