Thrombophilia - what is it? Thrombophilia: causes, symptoms, diagnosis and treatment

The state of predisposition of the organism to the development of vascular thrombosis, which can recur and have different localization, is called thrombophilia. The disease can be either genetic or acquired. The cause of the pathology is most often increased blood clotting. Clinically, the disease can be manifested by a variety of thromboses of different locations. Thrombophilia is quite common among the population and occurs in different forms. The disease requires treatment with medication or surgical methods.

Thrombophilia: what is it?

Pathology refers to the diseases of the blood system, manifested in the tendency to form blood clots and the violation of hemostasis. Multiple recurrent thrombosis with thrombophilia can result from injuries, surgery, physical overstrain or during pregnancy. The condition is dangerous because it can lead to complications such as pulmonary thromboembolism, stroke, myocardial infarction, deep vein thrombosis. Often, neglected forms lead to death.

The study, diagnosis and treatment of thrombophilia involved in several areas of medicine. Hematology studies violations of blood properties, phlebology - methods of diagnosis and treatment of venous thrombosis, removal of thrombi is performed by vascular surgeons. The formation of a thrombus leads to a violation of normal blood flow, which is accompanied by the development of dangerous conditions that are difficult to treat. To timely warn the problem, you need to periodically take an analysis of blood coagulability. The norm in women, for example, for venous blood is 5-10 minutes.

Causes of development

The factors that cause the development of pathology are several. Almost every person can face such a disease as thrombophilia. What this is a dangerous condition, many patients sometimes do not even suspect and apply for help late. There is a list of reasons that can contribute to the development of pathology.

Hereditary (or genetic) thrombophilia arises as a result of genetic predisposition to the disease. Previous blood diseases (thrombocytosis, erythremia, antiphospholipid syndrome) can also be the cause of its development. Dangerous factors include atherosclerosis, malignant neoplasms, atrial fibrillation, varicose veins, autoimmune diseases. The likelihood of thrombophilia increases after a stroke or infarction. The risk zone includes patients who are obese, lead a sedentary lifestyle, take hormonal contraceptives, eat poorly, have suffered serious trauma or surgical intervention in the past. At an early age, the disease is rare, it often develops in older people. To prevent disease or not to start a condition, it is recommended to undergo an analysis for thrombophilia from time to time.

Clinical picture

Clinical manifestations of pathology are characterized by the smoothness of growth and the duration of the flow, therefore patients do not immediately notice changes in the state of health and do not make any complaints. Laboratory indicators can diagnose thrombophilia, and a detailed clinical picture in some cases appears only a few years later. A vivid symptomatology is observed when a thrombus has already formed. The degree of obturation of the lumen of the vessel and the localization of the thrombus affect the severity of the symptoms.

Arterial thrombosis, caused by blood clots in the lumen of blood vessels of the arterial bed, is accompanied by the formation of thrombi in the lumen of the vessels of the placenta, fetal death of the fetus, multiple miscarriages, attacks of acute coronary insufficiency, ischemic stroke.

With venous thrombosis of the lower limbs, clinical symptoms manifest themselves in the form of trophic changes in the skin, pronounced swelling of the lower extremities, the appearance of pain, and a feeling of heaviness in the lower extremities.

Mesenteral thrombosis of the intestine occurs when the thrombus is localized in the mesenteric vessels and is accompanied by such symptoms: loosening of the stool, vomiting, nausea, dagger sharp pain.

With thrombosis of the liver of the liver, hydrothorax develops (Badd-Chiari syndrome), ascites, edema of the anterior abdominal wall and lower limbs, indomitable vomiting and intense pain in the epigastric region.

Hematogenous thrombophilia

Thrombosis affects the condition of the vascular wall, damaging it and reducing stability, contributes to the slowing of blood flow and the development of other hemodynamic disorders that are associated with a change in viscosity and clotting. Thrombophilic conditions in many cases are associated with the presence of vascular diseases, such as atherosclerosis, intimal vascular injury, toxic, immune or infectious vasculitis. Multiple recurrent thromboembolisms can be caused by changes in the properties of the blood itself, which gives the right to speak of a disease called "hematogenous thrombophilia". The development of pathology is associated with the propensity of the body to develop thrombosis caused by abnormalities in clotting systems, a violation of the haemostatic potential of the blood.

Hematogenic thrombophilia by origin can be congenital or acquired. The main mechanism of the disease is caused by: conjugated thrombogen shifts, platelet dysfunction, fibrinolysis disorders, inhibition, abnormalities or deficiency of blood coagulation, lack of basic physiological anticoagulants. In addition, iatrogenic thrombophilia develops as a result of medical effects or medical interventions.

Hereditary thrombophilia

Determine the congenital or hereditary nature of thrombosis can be based on the following clinical manifestations: thrombosis at an early age, cases of pulmonary arterial thrombosis, mesentery, lower extremities in a family history, the first episode of recurrent venous thrombosis up to the age of 30, thrombosis in early pregnancy, Thrombotic complications. Hereditary or genetic thrombophilia is determined after a comprehensive diagnosis of patients who have a risk of developing thrombophilic complications.

The congenital form of the disease can have a different nature. When diagnosing a disease, genetic markers of thrombophilia are taken into account. The first factor that promotes the development of pathology is a genetic predisposition. In this case, the disease may not manifest itself in the absence of conditions, which trigger the mechanisms of its development. The second is the mutation of genes during embryonic development. The concentration of factors pushing for mutation of genes is noticeably increasing lately. Among them are those resulting from human activities: radiation radiation, the use of food additives, medicines, environmental pollution (household chemicals, various fuels, pesticides), man-made disasters. It is impossible to predict under what conditions a gene can be amenable to changes, therefore mutagenesis is considered a random process that occurs by itself and has the ability to change hereditary properties.

Hereditary thrombophilia can also be due to a structural or genomic mutation of chromosomes, inherited from previous generations. The state of the disease gene is important here: recessive or dominant. In the second case, the pathology will manifest itself under any conditions.

Acquired thrombophilia

Not only hereditary, but also acquired origin can have this disease. The patient can be diagnosed with an antiphospholipid syndrome (APS). This is how the acquired thrombophilia manifests itself in most cases. What is it, what are the mechanisms of its development and how to deal with it?

Antiphospholipid syndrome is a complex of symptoms that combines laboratory data and clinical signs. The disease is accompanied by neurological disorders, immune thrombocytopenia, fetal loss syndrome, venous and arterial thrombosis. Allocate forms of APS: primary, secondary and catastrophic; Serological variants: seronegative and seropositive. The syndrome occurs against a background of tumoral, infectious, allergic or autoimmune diseases or due to drug intolerance.

Development of APS can be associated with such pathological conditions as: malignant neoplasms (cancer, lymphoproliferative diseases, leukemia), infections (mycoplasmosis, HIV, syphilis), asymptomatic circulation of AFA, chronic kidney failure, peripheral arterial and valvular disease, liver disease, Connective tissue diseases and autoimmune diseases (Crohn's disease, systemic vasculitis, SLE).

Thrombophilia in pregnancy

During pregnancy, genetic or hereditary thrombophilia often manifests itself for the first time. First of all, this is due to the appearance of a third, placental circulation circle, which exerts an additional burden on the circulatory system. The formation of thrombi also contributes to a number of features of the placental circle. In the placenta, there are no capillaries, the mother's blood flows from the arteries, then, flowing through the villi of the chorion, enters the umbilical cord.

The organism of a pregnant woman is characterized by increased coagulability of blood, which ensures a reduction in blood loss during labor or in the case of complications such as miscarriage or placental abruption. It helps increase the risk of blood clots, but this is a danger in them. If they are localized in the vessels that lead to the placenta, nutrients stop flowing into the fetal organism, hypoxia occurs. Depending on the level of obstruction of blood vessels and the number of blood clots, severe complications may follow: premature birth, miscarriage, pregnancy fading, malformations or fetal death, fetoplacental insufficiency, placental abruption. They appear, as a rule, after 10 weeks. At earlier terms, thrombophilia during pregnancy are very rare. If the disease develops after 30 weeks, this ends in many cases, placental abruption, placental insufficiency or severe forms of gestosis. At examination the doctor should pay attention to coagulability of a blood, the norm at women "in position" which slightly differs from the standard.

Diagnostics

Clinical manifestations of thrombosis are confirmed in the clinic with the help of laboratory (cytological, biochemical, genetic, coagulogic) and instrumental methods. By appearance and condition of the body can determine the suspicion of venous thrombosis (edema). Both venous and arterial are accompanied by constant pressing pains and a feeling of bursting. Sometimes in the localization area, skin temperature increases (venous). With arterial thrombosis near the site of thrombus formation, there is a decrease in temperature, cyanosis (cyanosis), sharp soreness. These symptoms are the first markers of thrombophilia, which are the most important reason to visit a specialist.

Directly in the hospital, more thorough studies of the patient's condition are carried out. It is necessary to take an analysis for thrombophilia, to make ultrasound of the vessels (determines the nature, size and location of the thrombus), to conduct contrast arteriography and venography, which allows localizing and investigating the anatomy of thrombotic processes. In addition, X-ray, radioisotope methods, genetic analysis of polymorphisms, determination of homocysteine concentration are used.

Treatment

The question of overcoming the disease occurs in those who have experienced a diagnosis of thrombophilia. What is it and how to deal with it in order to avoid serious consequences? Treatment of pathology should be comprehensive and conducted with the participation of physicians of different specializations: vascular surgeon, phlebologist, hematologist. At the first stage it is necessary to study the etiopathogenetic mechanisms of the development of the disease. Positive results from treatment should be expected only after elimination of the underlying cause. An important element of therapy is a diet that consists of excluding foods with high cholesterol, limiting fatty and fried foods. It is recommended to include in the diet dried fruits, vegetables and fruits, fresh herbs.

Medicamentous treatment consists in the appointment of disaggregants, which is supplemented by the use of anticoagulant therapy, medical bleeding, haemodulation. In some cases, freshly frozen plasma must be transfused in combination with heparinization. Substitution therapy is prescribed in a hereditary form, which is due to a deficiency of antithrombin III.

Easy thrombophilia (a blood test will help determine the form) is treated with lyophilized plasma (intravenously) or dry donor plasma. In severe forms, fibrinolytic drugs are used, which are administered at the level of a clogged vessel using a catheter. When a diagnosis of thrombophilia treatment should be individually selected and integrated, which will ensure a quick and effective recovery.

Prevention

In order not to face this serious disease or its complications, periodic preventive measures should be taken to prevent it. Patients with thrombophilia are recommended to perform plasma transfusion in low doses and subcutaneous injection of the drug "Heparin". Patients for prevention should prescribe medications that strengthen the vascular wall ("Trental" intravenously, "Papaverin" orally).

To prevent and treat thrombophilia, it is recommended to use folk remedies, for example, medicinal plants. So, reduce the activity of platelets will help tea from cranberries or grape juice. To destroy the blood can be with the help of tincture from the seeds of the Japanese Sophora. In addition, it is desirable to make the right diet, often walk in the fresh air and abandon bad habits.