Mutations associated with the risk of thrombosis

  • About the disease
  • About testing
  • Prevention and treatment

Thrombophilia means a predisposition to thrombosis. It is defined as an abnormality of the coagulation or fibrinolytic system that results in a hypercoagulable state and therefore increases the risk of thrombosis. This pathology has a high risk of pregnancy termination, preeclampsia, placental insufficiency and placental abruption, and recurrent pregnancy loss (RPN). Thrombophilia also increases the risk of venous thromboembolism. 

There are two types of thrombophilia: genetic (thrombin, Protein S or Protein C deficiency), also called hereditary or congenital, and acquired (antiphospholipid syndrome, nephrotic syndrome).

Thrombophilia is diagnosed on the basis of medical history, physical examination and instrumental and laboratory tests.

Genomics, the high-tech biomedical research and genetic diagnostics center provides tests of high accuracy, quality and reliability using the PCR amplification method.

Factor V Leiden (G1691A);
V Factor (H1299R);
Factor II Prothrombin (G20210A);
MTHFR (C677T);
MTHFR (A1298C);
PAI-1 (4G/5G);
XIII Factor (V34L).

In case of confirmed thrombophilia, the basis of thrombosis prevention is a healthy lifestyle, including physical activity, smoking cessation, proper diet and body weight correction.

If thrombophilia is diagnosed and there are additional risk factors for thrombosis, consideration shall be given to medical preventive treatment, administered as anticoagulants or antiplatelet agents as indicated. 

Frequently Asked Questions

When should thrombophilia be suspected?
  • Thrombosis occurred at a young age (in individuals younger than 50 years), namely, myocardial infarction, ischemic stroke, deep vein thrombosis and pulmonary embolism; 
  • Noteworthy is thrombosis of atypical location (mesenteric vessels,  sinus thrombosis etc);
  • If a woman has a history of multiple miscarriages, placental insufficiency, pre-eclampsia, and other obstetric pathologies; 
  • A family history of venous thromboembolism deserves attention when thrombosis occurs in first-degree relatives.
What are the symptoms of thrombophilia?

It is possible that a person has thrombophilia and for years it does not manifest clinically. Thrombophilia is manifested by thrombosis, the symptoms of which depend on the location of the clot.

What causes thrombophilia?

The causes of thrombophilia include:

  • Changes in the amount or function of proteins involved in blood clotting;
  • Antiphospholipid antibody syndrome, which includes three separate antiphospholipid antibodies;
  • Disseminated intravascular coagulation (DIC syndrome).