The state of the body's predisposition 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 localization. Thrombophilia is quite common among the population and occurs in different forms. The disease requires medical or surgical treatment.
Thrombophilia: what is it?
Pathology refers to diseases of the blood system, manifested in a tendency to form blood clots and impaired hemostasis. Multiple recurrent thromboses in thrombophilia may occur as a result of trauma, surgery, physical overexertion, or duringpregnancy. The condition is dangerous because it can lead to complications such as pulmonary embolism, stroke, myocardial infarction, deep vein thrombosis. Often running forms are fatal.
Research, diagnosis and treatment of thrombophilias are carried out by several branches of medicine. Hematology studies violations of blood properties, phlebology - methods for diagnosing and treating thrombosis of venous vessels, vascular surgeons are engaged in the removal of blood clots. The formation of a thrombus leads to disruption of normal blood flow, which is accompanied by the development of dangerous conditions that are difficult to treat. In order to prevent the problem in time, you need to periodically take a blood clotting test. The norm for women, for example, for venous blood is 5-10 minutes.
Reason for development
There are several factors that cause the development of pathology. Almost every person can experience a disease such as thrombophilia. What is this dangerous condition, many patients sometimes do not even suspect and seek help quite late. There is a list of reasons that can contribute to the development of pathology.
Hereditary (or genetic) thrombophilia occurs as a result of a genetic predisposition to the disease. Previous blood diseases (thrombocytosis, erythremia, antiphospholipid syndrome) can also be the cause of its development. Risk factors include atherosclerosis, malignant neoplasms, atrial fibrillation, varicose veins,autoimmune diseases. The likelihood of thrombophilia increases after a stroke or heart attack. The risk zone includes patients who are obese, lead a sedentary lifestyle, take hormonal contraceptives, have an unhe althy diet, have suffered a serious injury or surgery in the past. At an early age, the disease is rare, it most often develops in older people. In order to prevent the disease or not start the condition, it is recommended to be tested for thrombophilia from time to time.
Clinical picture
Clinical manifestations of pathology are characterized by a smooth increase and duration of the course, so patients do not immediately notice changes in their state of he alth and do not make any complaints. Laboratory indicators can diagnose thrombophilia, and the detailed clinical picture in some cases does not appear until a few years later. Vivid symptoms are observed when a blood clot has already formed. The degree of obturation of the lumen of the vessel and the localization of the thrombus affect the severity of symptoms.
Arterial thrombosis, caused by blood clots in the lumen of the vessels of the arterial bed, is accompanied by the formation of blood clots in the lumen of the vessels of the placenta, intrauterine fetal death, multiple miscarriages, attacks of acute coronary insufficiency, ischemic stroke.
With venous thrombosis of the lower extremities, clinical symptoms manifest themselves in the form of trophic changes in the skin, severeswelling of the lower extremities, the appearance of pain, a feeling of heaviness in the lower extremities.
Mesenteric intestinal thrombosis occurs when a thrombus is localized in the mesenteric vessels and is accompanied by the following symptoms: loose stools, vomiting, nausea, dagger sharp pain.
Thrombosis of the liver veins develops hydrothorax (Budd-Chiari syndrome), ascites, swelling of the anterior abdominal wall and lower extremities, indomitable vomiting and intense pain in the epigastric region.
Hematogenous thrombophilia
Thromboses affect the state of the vascular wall, damaging it and reducing stability, contribute to slowing down blood flow and the development of other hemodynamic disorders that are associated with changes in viscosity and coagulability. Thrombophilic conditions in many cases are associated with the presence of vascular diseases, such as atherosclerosis, damage to the intima of blood vessels, vasculitis of toxicogenic, immune or infectious origin. Multiple recurrent thromboembolism may be due to 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 tendency of the body to develop thrombosis due to abnormalities in the coagulation systems, a violation of the hemostatic potential of the blood.
Hematogenous thrombophilia by origin can be congenital or acquired. According to the main mechanism, diseases are distinguished that are caused by: associated thrombogenic changes, platelet dysfunction,fibrinolysis disorders, inhibition, abnormalities or deficiency of blood coagulation, lack of basic physiological anticoagulants. In addition, iatrogenic thrombophilias that develop as a result of medicinal effects or medical interventions are also isolated.
Hereditary thrombophilia
It is possible to determine the congenital or hereditary nature of thrombosis based on the following clinical manifestations: thrombosis at an early age, cases of thrombosis of the pulmonary artery, mesentery, lower limbs in a family history, the first episode of recurrent venous thrombosis before the age of 30, thrombosis at early pregnancy, thrombotic complications. Hereditary or genetic thrombophilia is determined after a comprehensive diagnosis of patients who are at risk of developing thrombophilic complications.
The congenital form of the disease can have a different nature. When diagnosing the disease, genetic markers of thrombophilia are taken into account. The first factor that contributes to the development of pathology is a genetic predisposition. In this case, the disease may not manifest itself in the absence of conditions that trigger the mechanisms of its development. The second is gene mutation during embryonic development. Recently, the concentration of factors pushing for gene mutation has been noticeably increasing. Among them are those that result from human activity: radiation, the use of food additives, medicines, environmental pollution (household chemicals, various types of fuel, pesticides), man-made disasters. It is impossible to predict whenunder what conditions a gene can be changed, so mutagenesis is considered a random process that occurs on its own and has the ability to change hereditary properties.
Hereditary thrombophilia can also be caused by a structural or genomic mutation of chromosomes that are inherited from previous generations. The state of the disease gene matters 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 may be diagnosed with antiphospholipid syndrome (APS). This is how 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. There are forms of APS: primary, secondary and catastrophic; serological variants: seronegative and seropositive. The syndrome occurs on the background of neoplastic, infectious, allergic or autoimmune diseases or due to drug intolerance.
The development of APS may be associated with such pathological conditions as: malignant neoplasms (cancer, lymphoproliferative diseases, leukemia), infections(mycoplasmosis, HIV, syphilis), asymptomatic APA circulation, chronic kidney failure, peripheral arterial and valvular disease, liver disease, connective tissue disease, and autoimmune diseases (Crohn's disease, systemic vasculitis, SLE).
Thrombophilia during pregnancy
During pregnancy, genetic or hereditary thrombophilia often manifests itself for the first time. First of all, this is due to the appearance of the third, placental circle of circulation, which puts an additional burden on the circulatory system. The formation of blood clots also contributes to a number of features of the placental circle. There are no capillaries in the placenta, it receives the mother's blood from the arteries, then, flowing through the chorionic villi, enters the umbilical cord.
The body of a pregnant woman is characterized by increased blood clotting, which reduces blood loss during childbirth or in the event of complications such as miscarriage or placental abruption. It increases the risk of blood clots, and this is where the danger lies. If they are localized in the vessels that lead to the placenta, nutrients stop flowing into the fetal body, hypoxia occurs. Depending on the level of blockage of blood vessels and the number of blood clots, severe complications may follow: premature birth, miscarriage, fading of pregnancy, fetal malformations or death, fetoplacental insufficiency, placental abruption. They usually appear after 10 weeks. At earlier stages, thrombophilia withpregnancies are very rare. If the disease develops after 30 weeks, then it ends in many cases with placental abruption, placental insufficiency or severe forms of preeclampsia. During the examination, the doctor should pay attention to blood clotting, the norm for women "in the position" of which is slightly different from the generally accepted one.
Diagnosis
Clinical manifestations of thrombosis are confirmed in the clinic using laboratory (cytological, biochemical, genetic, coagulological) and instrumental methods. By the appearance and condition of the body, one can determine the suspicion of venous thrombosis (edema). Both venous and arterial are accompanied by constant pressing pains and a feeling of fullness. Sometimes in the localization area, the skin temperature rises (venous). With arterial thrombosis near the site of thrombus formation, there is a decrease in temperature, cyanosis (cyanosis), and severe pain. The listed symptoms are the first markers of thrombophilia, which are the most important reason to visit a specialist.
Directly in the hospital, more thorough examinations of the patient's condition are being carried out. It is imperative to take an analysis for thrombophilia, do an ultrasound of the vessels (determines the nature, size and localization of the thrombus), conduct contrast arteriography and venography, which allows you to localize and explore the anatomy of thrombotic processes. In addition, X-ray, radioisotope methods, genetic analysis of polymorphisms, determination of the concentrationhomocysteine.
Treatment
The question of overcoming the disease arises in those who are faced with 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 carried out with the participation of doctors of various specializations: a vascular surgeon, a phlebologist, a 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 the elimination of the root cause. An important element of therapy is a diet, which consists in the exclusion of foods with high cholesterol, limiting fatty and fried foods. It is recommended to include dried fruits, vegetables and fruits, fresh herbs in the diet.
Drug treatment consists in the appointment of antiplatelet agents, which is supplemented by the use of anticoagulant therapy, therapeutic bloodletting, hemodulation. In some cases, it is necessary to carry out a transfusion of fresh frozen plasma in combination with heparinization. Replacement therapy is prescribed for the hereditary form, which is caused by a deficiency of antithrombin III.
Mild thrombophilia (a blood test will help determine the form) is treated with lyophilized plasma (intravenously) or dry donated plasma. In severe forms, fibrinolytic drugs are used, which are administered at the level of the clogged vessel using a catheter. With the diagnosis of thrombophilia, treatment should be individually selected and comprehensive, which will ensure quick and effective treatment.recovery.
Prevention
In order not to encounter this serious disease or its complications, it is necessary to periodically take preventive measures to prevent it. Patients with thrombophilia are recommended to carry out plasma transfusion in low doses and subcutaneous administration of the drug "Heparin". For prevention, a patient should be prescribed medications that strengthen the vascular wall (Trental intravenously, Papaverine orally).
For the prevention and treatment of thrombophilia, it is recommended to use folk remedies, such as medicinal plants. So, cranberry tea or grape juice will help reduce platelet activity. You can thin the blood with a tincture of Japanese Sophora seeds. In addition, it is advisable to make the right diet, walk more often in the fresh air and give up bad habits.
