Thrombophilia is a predisposition to the development of recurrent vascular thrombosis (mainly venous) of various localization. The disease is caused by genetic or acquired pathology of blood cells or defects in the blood coagulation system. Clinically, disease is manifested by multiple thrombosis of very different localization. Repeated thrombosis in the patient’s history should lead the doctor to think about the presence of thrombophilia, which can be confirmed by studies of the blood and coagulation system. Treatment of thrombophilia depends on its type. As a rule, thrombolytics, anticoagulants and disaggregants are used.
Thrombophilia is a disease of the blood system, manifested in a violation of hemostasis and a tendency to thrombosis. Manifestations of thrombophilia are multiple and recurrent thrombosis of various localization, often occurring after physical overstrain, surgery, trauma, due to pregnancy. The consequences of thrombophilia are deep vein thrombosis, myocardial infarction, kidney, stroke, pulmonary embolism, often leading to death.
Thrombophilia is a widespread pathology. According to some authors, about 40% of the adult population suffers from some form of thrombophilia. There is a constant increase in the number of thrombosis due to a number of factors: the “aging” of the population, physical inactivity, the presence of chronic diseases, etc.
Thrombophilia is a disease related to several areas of medicine. Hematology studies blood disorders in thrombophilia, diagnostics and treatment of venous vessel thrombosis – phlebology, and vascular surgeons remove blood clots from arterial vessels.
With the formation of a blood clot, normal blood flow is disrupted, which can lead to the development of dangerous complications. Thrombosis of the cerebral vessels can cause an ischemic stroke, thrombosis of the coronary vessels causes the development of myocardial infarction, with thrombosis of the main arteries of the extremities, there is a threat of tissue necrosis, leading to amputation.
Thrombosis of the veins and arteries of the mesentery of the intestine (mesenteric vessels) causes intestinal necrosis and the development of peritonitis due to perforation of the necrotic part of the intestine. Microthrombosis of placental vessels can lead to a violation of the nutrition of the fetal egg and spontaneous abortion.
With deep vein thrombosis of the lower extremities, there is a danger of blockage of the pulmonary artery by a detached thrombus (pulmonary embolism), and in the long term the risk of developing chronic venous insufficiency increases. According to international statistics, the number of deep vein thrombosis of the lower extremities is constantly growing. Currently, the frequency of treatment for phlebothrombosis is 150 cases per 100 thousand people per year.
The risk of developing thrombophilia increases in the presence of a genetic predisposition (hereditary thrombophilia), some acquired blood diseases (thrombocytosis, etitremia, antiphospholipid syndrome), atherosclerosis, malignant neoplasms, atrial fibrillation, varicose veins of the lower extremities, a number of autoimmune diseases, arterial hypertension.
The likelihood of developing thrombophilia increases after a stroke or heart attack. The risk of blood clots increases after injuries and surgical interventions, with prolonged inactivity, obesity, during pregnancy, when taking hormonal contraceptives. Smoking is a risk factor. Thrombophilia develops more often in patients of older age groups.
There are two main groups of thrombophilia.
1. Thrombophilia caused by a violation of the cellular composition and rheological properties of blood. The following conditions lead to the development of this group of thrombophilia:
- blood thickening, excess of shaped elements (thrombocytemia, erythrocytosis, polycythemia);
- red blood cell shape change (sickle cell anemia);
- increased plasma viscosity (cryoglobulinemia, Waldenstrom’s disease, myeloma).
2. Thrombophilia resulting from primary hemostasis disorders. This group includes conditions caused by an excess or lack of clotting factors.
All types of blood composition disorders and defects of the blood coagulation system can be both congenital and acquired.
Clinical manifestations of thrombophilia in the formation of a specific thrombus depend on the site of the lesion, the degree of circulatory disorders and the presence of concomitant (background) pathology. Thrombophilia is indicated by multiple thrombosis of various localization, organ infarctions developing in relatively young patients, thromboembolism in the pulmonary artery basin.
The diagnosis of thrombophilia is made on the basis of a tendency to recurrent formation of blood clots of various localization, family history (hereditary predisposition), characteristic results of laboratory tests. Patients with venous thrombosis, as a rule, seek help from a phlebologist. The presence of repeated thrombosis in the anamnesis allows the doctor to suspect thrombophilia and prescribe appropriate laboratory tests. Laboratory tests are carried out in two stages. First, the most common types and groups of thrombophilia are determined, then highly specialized confirmatory studies are performed.
In the treatment of thrombophilia, it is often necessary to simultaneously solve two tasks: to take measures to combat thrombosis and to treat the underlying disease, which led to the recurrent formation of blood clots. Treatment of thrombosis consists in the appointment of thrombolytics and anticoagulants.
With thrombophilia caused by a violation of the cellular composition and rheological properties of blood, patients are prescribed disaggregants and anticoagulants (dipyridamole, acetylsalicylic acid). Hirudotherapy (treatment with leeches) is used various methods of hemodilution (thrombocytopheresis, erythrocytopheresis).
In the treatment of thrombophilia caused by a deficiency of anticoagulants and clotting factors, jet transfusions of large amounts of fresh or freshly frozen plasma are used. In some diseases that contribute to the development of this disease (Moshkovich disease, thrombocytopenic purpura), rapid replacement blood transfusion is required to save the lives of patients (massive plasmapheresis in combination with jet injection of freshly frozen plasma).
Timely prevention and treatment of thrombophilia becomes possible with early detection of persons with a predisposition to the formation of blood clots. It is necessary to eliminate the factors contributing to the development of the disease (prolonged cooling, obesity, excessive physical activity, hypokinesia). You should not take hormonal contraceptives and perform intravenous manipulations without a doctor’s appointment.