Thrombophilia is a congenital or acquired pathological condition that is characterized by impaired blood clotting and an increased risk of blood clots. It is distinguished by its duration and sudden complications such as the formation of a blood clot in a vein, its fixation to the wall with the development of inflammatory processes (phlebothrombosis) or blockage of blood vessels by a blood clot (thromboembolism). Such conditions pose a danger to the health and life of the patient and require professional medical care.
At the same time, it is worth noting that thrombophilia cannot always lead to complications in the form of thrombosis or thromboembolism - however, the risk of their occurrence with this pathology increases significantly.
Causes
In recent decades, there has been an increase in the number of patients who suffer from congenital and acquired forms of thrombophilia. Scientists explain this by the following factors:
- deterioration of the environmental situation in the world;
- "population aging;
- failure to seek professional medical help in a timely manner.
At CELT you can get advice from a phlebologist.
- Initial consultation – 3,000
- Repeated consultation – 2,000
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The division into genetic and acquired thrombophilia is carried out based on the cause of the disease. Thus, genetic thrombophilia is the result of structural features of certain genes that lead to disturbances in the functioning of the blood clotting system. The most common hereditary thrombophilias are:
- polymorphism (Leiden mutation) of blood clotting factor V;
- polymorphism in the prothrombin II blood clotting factor gene;
- protein S deficiency;
- protein C deficiency;
- antithrombin deficiency.
They arise due to:
- increased levels of lipoproteins in the blood;
- lack of antithrombin III;
- lack of prothrombins S and C;
- thalassemia;
- factor V gene mutations;
- prothrombin mutations.
Unlike congenital thrombophilia, acquired forms develop against the background of other diseases, including cancer, as well as when taking certain medications. It is customary to highlight the following reasons:
- long-term venous catheterization;
- heart defects;
- cancerous tumors, the treatment of which involves massive chemotherapy;
- autoimmune diseases;
- dehydration of the body, accompanied by an increase in the number of red blood cells.
Detailed description of the study
A study of 12 genetic factors in the development of thrombophilia is used to assess the risk of thrombosis and other complications in people at risk.
The study includes analysis of 12 parameters:
- Coagulation factor II (F2 thrombin). Polymorphism: G20210A.
- Coagulation factor V (F5 Factor Leiden) Factor V Leiden (G1691A; Arg506Gln).
- Coagulation factor VII (proconvertin) F7: 10976 G>A (Arg353Gln).
- Coagulation factor XIII (F13A1). Polymorphism: Val34Leu (Val35Leu).
- Fibrinogen (Coagulation factor 1) FGB: G-455A (G-467A).
- Integrin, alpha 2 ITGA2: C807T.
- Integrin, beta 3 (platelet glycoprotein IIIa) ITGB3: PIA1/PIA2 (Leu33Pro; T1565C; HPA-1b).
- Plasminogen activator inhibitor SERPINE1 (PAI1). Polymorphism: 4G/5G (PAI1: 4G/5G; Ins/Del G).
- Methylenetetrahydrofolate reductase MTHFR: C677T (Ala222Val)
- Methylenetetrahydrofolate reductase MTHFR: A1298C (Glu429Ala)
- Methionine synthase MTR: Asp919Gly (A2756G)
- MTRR reductase: Ile22Met (A66G)
Thrombophilia is a predisposition to the formation of thrombi (blood clots) in the lumen of a vessel of a hereditary or acquired nature. Blood clots block blood flow, which causes coronary heart disease, pulmonary embolism, strokes and heart attacks.
Mutations in some genes encoding coagulation factors, platelet factors and fibrinrolysis factors (anti-coagulation system) are responsible for the development of thrombophilia. In healthy people, the coagulation and anticoagulation systems of the blood are in balance, preventing the formation of blood clots and excessive bleeding. In some pathologies, including thrombophilia, the balance is disturbed.
There is no treatment for thrombophilia, but there are effective preventive measures that can prevent the development of complications.
The analysis is a molecular genetic study of the genes for coagulation factors, fibrinolysis, and platelet receptors, changes in the activity of which cause a tendency to increased thrombus formation. Genes of enzymes responsible for folic acid metabolism may be involved in the development of the disease. Mutations in them lead to atherosclerotic and thrombotic changes in blood vessels.
Diagnosis of thrombophilia
Diagnosis of this disease requires laboratory tests. As a rule, testing for the presence of thrombophilia is carried out in the following cases:
- the presence of this disease in relatives;
- an episode of deep vein thrombosis (DVT) or pulmonary embolism at a young age in the absence of conditions that provoke the development of complications;
- relapses (DVT);
- thrombophlebitis of healthy superficial veins;
- 2 or 3 non-consecutive abortions at any stage of pregnancy, fetal loss at a gestational age of more than 20 weeks.
Thrombophilia - what kind of disease is it?
Thrombosis is the process of forming blood clots where the vascular wall is damaged; its purpose is to ensure the safety of the vascular system.
This process itself is physiologically normal; it prevents excessive blood loss at the sites of injury. But if the thrombotic process is excessive, then pathological thrombosis occurs. When answering the question of what thrombophilia is, we can give a clear example in the form of a photo that shows increased activity of blood cells and the formation of a blood clot. The disease is not always accompanied by thromboembolism or thrombosis, but the risk of blood clots in various places of the circulatory system greatly increases. Now modern medicine is concerned about the problem of this disease, since deaths quite often occur due to blockage of a blood vessel. The most commonly diagnosed hereditary thrombophilia is hereditary thrombophilia. According to statistics, in Europe about 15% of people suffer from this disease.
Do not confuse concepts such as thrombophilia and trypophilia. These are completely unrelated terms. But sometimes you can hear the question: trypophilia, what is it? The concept means phobia, fear of accumulation of objects with a rounded shape, cluster holes. So tripophilia is fear and discomfort associated, for example, with lotus seeds, honeycombs, and not a disease that manifests itself as pathologies in the body.
Our doctors
Drozdov Sergey Alexandrovich
Cardiovascular surgeon, phlebologist, Doctor of Medical Sciences
47 years of experience
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Malakhov Yuri Stanislavovich
Doctor - cardiovascular surgeon, phlebologist, Honored Doctor of the Russian Federation, Doctor of Medical Sciences, doctor of the highest category
Experience 36 years
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Prevention of serious complications in thrombophilia
Prevention of thrombophilia manifestations is carried out starting with preparation for conception! Early initiation of therapy ensures normal processes of embryo implantation and placentation. Prescribing this treatment later in pregnancy, after the processes of trophoblast invasion and placentation have completed, significantly reduces the chance of carrying the pregnancy to term without complications.
Preventive treatment includes the following drugs:
- Low molecular weight heparin (LMWH).
- Folic acid.
- B vitamins.
- Omega-3 polyunsaturated fatty acids.
- Antiplatelet agents.
- Natural progesterone (micronized).
Treatment
Treatment of thrombophilia is prescribed individually with the obligatory participation of a hematologist and directly depends on the factors that led to the onset of this disease. It is aimed at combating thrombosis and treating the underlying disease.
Conservative treatment methods provide an integrated approach, in which special attention is paid to eliminating the cause of the pathology. In addition, a general regimen for the treatment and prevention of thrombosis is used.
This is due to the fact that there is no specific therapy for the treatment of thrombophilia. Treatment is as follows:
- Prescribing a diet that limits the consumption of fatty and fried foods and completely eliminates foods high in cholesterol;
- Taking medications that inhibit platelet aggregation (Aspirin, Curantil), anticoagulants (Warfarin), drugs that have a strengthening effect on vascular walls (Papaverine, Trental);
- The use of traditional medicine: freshly squeezed grape juice, cranberry tea, tincture of Japanese sophora seeds.
Treatment of thrombophilia resulting from a deficiency of coagulation factors and antithrombin III involves the transfusion of large volumes of plasma, which are combined with the introduction of Heparin into the blood. Congenital thrombophilia, which occurs due to a lack of antithrombin III, requires the use of replacement therapy: the introduction of drugs with antithrombin III into the blood three hours after the administration of Heparin. Treatment of mild forms of thrombophilia is carried out by subcutaneous administration of lyophilized plasma and Heparin 4 times a day. Intravenous administration of antithrombin III can achieve good results.
In severe forms of the disease, direct-acting anticoagulants are used, which are combined with fibrinolytic agents. This treatment gives especially good results when the drug is administered at the level of the affected vessel.
Classification
Modern medicine distinguishes two main groups of thrombophilias:
| Group I | Group II |
| Purchased and genetic thrombophilia due to increased viscosity and slower blood flow, as well as disturbances in cellular composition:
| Congenital and acquired thrombophilia due to primary disorders of the hemostatic system, which is “responsible” for maintaining the liquid state of the blood, dissolving blood clots that have already fulfilled their function. These include:
|
Our services in phlebology
The administration of CELT JSC regularly updates the price list posted on the clinic’s website. However, in order to avoid possible misunderstandings, we ask you to clarify the cost of services by phone: +7
| Service name | Price in rubles |
| Appointment with a surgical doctor (primary, for complex programs) | 3 000 |
| Appointment with a cardiovascular surgeon (phlebologist), MD. Malakhova Yu.S. with ultrasound examination (primary) | 4 500 |
| Duplex scanning of the veins of both lower extremities | 6 000 |
| Duplex scanning of the veins of one lower limb | 3 500 |
All services
Make an appointment through the application or by calling +7 +7 We work every day:
- Monday—Friday: 8.00—20.00
- Saturday: 8.00–18.00
- Sunday is a day off
The nearest metro and MCC stations to the clinic:
- Highway of Enthusiasts or Perovo
- Partisan
- Enthusiast Highway
Driving directions
Danger and risk factors
The development of the disease is influenced by a hereditary factor (genetic thrombophilia). But there are also some acquired risks:
- blood diseases. Erythremia, atherosclerosis, varicose veins of the lower extremities, arterial hypertension;
- diseases that affect motor activity (Schlatter's disease), malignant tumors, autoimmune diseases (antiphospholipid syndrome, systemic lupus erythematosus), polycystic kidney disease can indirectly affect the development of pathology;
- infectious processes;
- suffered a heart attack or stroke;
- surgical interventions;
- venous catheterization;
- liver diseases;
- obesity;
- pregnancy period;
- nephrotic syndrome;
- some medications (oral contraceptives, prednisolone).
Does genetic thrombophilia affect the characteristics of childbirth?
This pathology is not a reason to choose, for example, a cesarean section. The method of delivery is chosen as in other cases.
Taking tests
The number and time of tests is determined by the gynecologist. The result of donating blood from a vein is usually ready the next day (urgent analysis is available).
The state of the blood coagulation system is assessed by:
- hemostasiogram;
- platelet aggregation;
- D-dimer.
Which medical specialist prescribes the course of treatment?
If the gynecologist is sufficiently qualified, no additional consultations are required for treatment.
Does the gynecologist understand hemostasis?
The medical center employs gynecologists, whose level of qualifications and experience in medical practice undoubtedly meet the necessary requirements.
