Online consultations with MCSC doctors n. a. A. S. Loginov

Thrombophilia

Thrombophilia-a tendency to increased coagulation (blood clotting) and the formation of blood clots, which is the main cause of death and disability in many developed countries. The development of arterial and venous thrombosis leads to myocardial infarction, coronary heart disease, stroke, pulmonary embolism, etc.

The most common genetic factors that predispose to thrombosis and significantly increase the risk of developing thrombophilia are polymorphisms in the genes of clotting factors F2 and F5.

Gene F2.

The F2 gene encodes the amino acid sequence of the prothrombin protein. Prothrombin (or coagulation factor II) is one of the main components of the blood clotting system. As a result of its enzymatic cleavage, thrombin is formed. This reaction is the first stage of the formation of a blood clot.

Gene F5.

The F5 gene encodes the amino acid sequence of the protein – coagulation factor V. The function of coagulation factor V is to activate the reaction of the formation of thrombin from prothrombin. The replacement of the guanine nucleotide base with adenine in the F5 gene leads to another amino acid substitution, which gives the active form of Leyden factor resistance to the cleavage action of the regulatory enzyme, which leads to hypercoagulation (increased clotting) of the blood.

Indications for the analysis.

- planning of any surgical interventions;

- pregnant women of the older age group (over 35 years) with induced pregnancy (IVF), multiple pregnancy;

- women with a complicated gynecological history (premature detachment of the normally located placenta, placental insufficiency, gestosis, miscarriage, stillbirth, IVF failures in the anamnesis, etc.);

- varicose veins of the lower extremities

- recurrent venous thrombosis

- the presence of thrombosis in the family

- the presence of strokes, heart attacks in the family under 50 years of age

- thrombosis at a young age (up to 40 years).

Conducting genetic testing for the presence of mutations in the above genes, and assessing the risk of developing pathologies of the blood clotting system allows you to competently provide the necessary support to the body (both medication and by adjusting the patient's lifestyle), as well as prevent dangerous complications.

Our specialists will advise you on the results of the conducted testing and help you to make an individual examination program and form a personal set of measures to prevent the development of diseases associated with the genetic pathology of the coagulation system.

 

GBUZ Moscow Clinical Scientific Center named after Loginov MHD