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Thrombophilia: causes, symptoms, diagnosis, treatment
Last reviewed: 05.07.2025
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In healthy individuals, hemostatic balance is the result of the interaction of procoagulant (promoting clot formation), anticoagulant, and fibrinolytic components. Numerous factors, including congenital, acquired, and environmental factors, can shift the balance toward hypercoagulability, leading to thrombus formation in veins [e.g., deep vein thrombosis (DVT)], arteries (e.g., myocardial infarction, ischemic stroke), or cardiac chambers. A thrombus may cause blood flow obstruction at the site of thrombus formation or may detach and block a distant vessel (e.g., pulmonary embolism, stroke).
Causes thrombophilias
Gene mutations that increase susceptibility to venous thromboembolism include the factor V Leiden mutation, which causes resistance to activated protein C; the prothrombin gene 20210 mutation, protein C deficiency, protein S, protein Z, and antithrombin deficiency.
Acquired disorders predisposing to the development of venous or arterial thrombosis, such as heparin-induced thrombocytopenia/thrombosis, the presence of antiphospholipid antibodies and (possibly) hyperhomocysteinemia resulting from deficiency of folate, vitamin B12 or B6.
Certain medical conditions and environmental factors can increase the risk of developing thrombosis, especially when combined with one of the genetic defects mentioned above.
Blood stasis associated with surgery or orthopedic surgery, immobility due to paralysis, heart failure, pregnancy, and obesity increase the risk of developing venous thrombosis.
Branch cells, especially in promyelocytic leukemia, tumors of the lung, mammary gland, prostate gland, gastrointestinal tract predispose to the development of venous thromboses. They are capable of initiating hypercoagulation of blood by secreting protease that activates factor X, expressing tissue factor on the membrane surface, or by including both of these mechanisms.
Sepsis and other severe infections are associated with increased tissue factor expression on monocytes and macrophages, which may increase the risk of developing venous thrombosis.
Estrogen-containing oral contraceptives increase the risk of arterial and venous thromboembolism, but the risk is low with modern low-dose regimens.
Atherosclerosis predisposes to the development of arterial thrombosis, especially in areas of vascular stenosis. The rupture of an atherosclerotic plaque and the entry of tissue factor-rich contents into the blood initiates the adhesion and aggregation of platelets, leads to the activation of coagulation factors and provokes the development of thrombosis.
[ Diagnostics thrombophilias
The complex of studies aimed at finding hereditary pathology includes determination of the functional activity of natural anticoagulant molecules in blood plasma and determination of specific gene abnormalities. Testing begins with a group of screening tests followed by (if necessary) specific studies.
Treatment thrombophilias
The treatment of thrombosis depends on the location of the thrombus. Predisposing factors should always be taken into account. In some cases, the situation is clinically obvious (e.g., recent surgery or trauma, prolonged immobilization, cancer, generalized atherosclerosis). If no obvious predisposing factors are identified, further investigation should include a family history of venous thrombosis, manifestations of more than one venous thrombosis, myocardial infarction or ischemic stroke before the age of 50, or unusual locations of venous thrombosis (e.g., cavernous sinus, mesenteric veins). At least half of all patients with spontaneous deep vein thrombosis have a genetic predisposition.