Thrombophilia is a condition that manifests as a disorder of hemostasis and tends to cause recurrent vascular thrombosis (mainly venous) at various sites and often occurs in conjunction with pregnancy, after surgery, injury, or physical exertion. The disease is caused by genetics (in 30-50% of cases) or acquired disorders of blood cells, as well as disorders of the blood coagulation system.
Genetic predisposition to thrombophilia can occur through genetic damage, both in the coagulation system and in the anticoagulant mechanism (anticoagulant and fibrinolytic mechanism), in which there is a tendency to develop thrombosis.
Thrombosis refers to the formation of blood clots in the lumen of blood vessels or in the heart cavities.
Thrombosis plays one of the most important roles in the development of cardiovascular diseases, which are first on the list as causes of disability and premature death in economically developed countries. Today, these diseases account for 40-60% of all deaths (approximately 14 million deaths every year). In addition, the continuing increase in the incidence among young people makes cardiovascular disease (CVD) the most important medical and social problem.
Hereditary thrombophilia plays an important role in the development of obstetric and gynecological complications, such as fetal death, recurrent miscarriages, recurrent IVF failures, and thromboembolic events in pregnant women.
Another important issue is oral contraceptives. Contraceptives are one of the most reliable ways to prevent unwanted pregnancy, but they carry the risk of thrombosis. Hormonal contraception alone has been shown to slightly increase the risk of thrombosis, but the presence of a specific genotype increases the risk significantly. According to the Medical Eligibility Criteria for Contraceptive Use (2012) and the fourth edition of the Medical Eligibility Criteria for Contraceptive Use compiled by the WHO (2009), for the prevention of thrombosis and thromboembolic complications in those receiving contraceptives, testing of thrombogenic mutations of Factors II (F2, prothrombin) and V (F5, Leiden factor) is recommended.
Genetic analysis allows the detection of genetic polymorphisms of the hemostatic system factors, which lead to the abnormal synthesis of the factors or to a disturbance of its functional capacity. This allows the risk of cardiovascular disease and obstetric complications, thromboembolic events, and venous and arterial thrombosis to be assessed. Testing the genetic predisposition to thrombophilia quickly helps identification of patients at risk and allows appropriate adjustments to their management tactics.
Indications for genetic analysis of hereditary thrombophilia
- Cases of hereditary thromboembolic events
- Cases with a history of thrombosis
- Thrombosis before the age of 50
- Recurrent thrombosis
- Thrombosis at any age if there is a family history
- Unusual thrombosis (portal, mesenteric and cerebral venous thrombosis)
- Thrombosis of unclear etiology after the age of 50 years
- Use of hormonal contraception or hormone replacement therapy in women with a history of thrombosis or first-degree relatives diagnosed with hereditary thrombophilia or a family history of thromboembolic complications
- Obstetric history with complications
- Women planning a pregnancy who have a history of thrombosis or first-degree relatives diagnosed with hereditary thrombophilia or a family history of thromboembolic disease
- High-risk situations
- Major surgeries
- Prolonged immobilization
- Prevention of thrombotic complications in patients with malignancies
Genetic testing for predisposition to thrombophilia with ThromboGenomiX® also includes the genetic testing of folic acid cycle and methylation, FolateGenomiX®.