Thrombophilia - this change in the balance of the blood coagulation system, manifested by an increased tendency to thrombus formation process.Thrombophilia is characterized by a prolonged course and manifestations of sudden complications - phlebothrombosis, thromboembolism.
The main function of the blood coagulation system is to maintain the liquid state of the blood and, if necessary, the formation of "hemostatic plug" when damaged vessel.Hemostasis is nothing but a chain of chemical reactions, which involve substances called clotting factors.
tromboorazovaniya process is dynamic and depends on the condition of the epithelium of the vessel wall, the blood flow dynamics and hemostasis of blood components.Without a proper balance between these components increases the risk of increasing or decreasing tromboorazovaniya.
Note that thrombophilia is not always accompanied by thrombosis and embolism, but in patients with thrombophilia increases the risk of thrombosis of various l
Individuals suffering from thrombophilia, there is the high content of proteins that increase blood clots and reduced anti-clotting protein that provides a tendency to thrombotic masses in the lumen of blood vessels.
Any person may be signs of thrombophilia, but the extent of their symptoms will vary depending on the availability of the aggregate risk of the disease.There has been a progressive increase in the number of patients with genetic and acquired forms of thrombophilia, due to the deterioration of the ecological situation, late diagnosis and treatment of chronic conditions, as well as a global "aging" of the population.
All thrombophilia is divided into two main groups of etiological principle: hereditary and acquired.
hereditary thrombophilia risk factors include: lack of antithrombin III, prothrombin deficiency S and C gene mutation Factor V and prothrombin, disfibrinogenemiya, elevated levels of lipoproteins in the blood, sickle cell anemia and thalassemia.This group should also include congenital abnormalities of blood vessels, which are often accompanied by an increased risk of thrombosis.
Acquired factors are rarely the primary cause of thrombophilia, but they combine to create conditions for the formation of thromboembolic complications.This group includes: duration of catheterization of veins, dehydration, accompanied by polycythemia, diseases of autoimmune nature, heart defects, cancer, disease, requiring massive chemotherapy.
great importance in the development of thrombophilia is the patient's age.Thus, even in the neonatal period in children is imperfect system fibrinolytic activity due to insufficient content of natural anticoagulants.In older children among the causes of thrombophilia occupies a leading position catheterization of the superior vena cava.In adulthood, sometimes only one factor for the initiation of the formation of a blood clot.
avowed etiopathogenetic classification thrombophilia identifies three main types of the disease:
- hematogenous thrombophilia, due to changes in clotting, anticoagulant and fibrinolytic properties of blood;
- vascular thrombophilia associated with vascular pathology (atherosclerosis, occlusive disease, vasculitis);
- hemodynamic thrombophilia due to violation of the circulatory system.
Very often, people who suffer from thrombophilia, do not make any complaints and did not notice the changes in health status, as this pathology is characterized by a long duration and smooth growth of the clinical manifestations.At times, the period of the developed clinical picture comes after several years of undiagnosed thrombophilia laboratory parameters.
Bright clinical symptoms appear in patients only when there is a fact of thrombus formation and severity of symptoms depends on the extent and location of the thrombus obstruction of the vessel lumen.
signs of arterial thrombosis due to the appearance of blood clots in the blood vessels of the lumen of the channel are: ischemic stroke and acute coronary insufficiency attacks in young adults, multiple miscarriages and intrauterine fetal death in the formation of a blood clot in the lumen of the placental vessels.
venous thrombosis of the lower limbs is characterized by a wide spectrum of clinical manifestations: a feeling of heaviness in the lower limbs, the appearance of pain Expander nature in the shins in the projection location of vascular bundle, marked swelling of the lower extremities and trophic skin changes.If the thrombus is localized in the mesenteric vessels, then there are signs of mesenteric thrombosis bowel: knife-sharp pain without clear localization, nausea, vomiting and loose stools.
thrombosis of the hepatic veins appears intense pain in the epigastric region, uncontrollable vomiting, swelling of the lower extremities and the anterior abdominal wall, ascites and hydrothorax (Budd-Chiari syndrome).
Thus, the main consequences of thrombophilia include: ischemic heart attacks and strokes, thromboses of various localization and the pulmonary trunk.
Hereditary or genetic thrombophilia is an increased tendency to form blood clots, is inherited from parents to their children.Signs inherit thrombophilia appear in childhood.
Congenital thrombophilia characterized by the presence in a patient of a defective gene that causes disturbances in the hemostatic system.Defective genes thrombophilia child may inherit from a parent.If both parents have the gene thrombophilia, the child may experience serious violations of blood coagulation.
The frequency of genetic thrombophilia is an average of 0.1-0.5% of the population and 1.8% of patients with thromboembolism.
Among hereditary thrombophilia should note the following forms:
- genetically determined lack of antithrombin III, which is characterized by autosomal dominant inheritance.If both parents have the dominant gene, the risk of stillbirth in a family reaches 90%.The frequency of this disease is 0.3% of the population;
- congenital deficiency of protein C and S, inherited dominant type.Signs of thrombophilia occur in the neonatal period in the form of lightning purpura (the appearance of ulcers and necrosis on the skin), and homozygous individuals 100% mortality;
- Leiden defect factor significantly increases the risk of thrombosis at any age, and during pregnancy is considered to be one of the most common causes of abortion;
- prothrombin gene mutation is the cause of thrombophilia in young adults, and signs of thrombosis of placental vessels in pregnant women;
- congenital hyperhomocysteinemia, accompanied by intrauterine defects bookmark nervous system in the future fetus.
Thrombophilia in pregnancy
Many women with a tendency to increased thrombosis can without problems bear a healthy child, but these women are at risk for the occurrence of varicose veins, phlebothrombosis and other complications during pregnancy.
During pregnancy, the body of every woman is an enormous compensatory changes, which include changes in blood coagulation system designed to limit blood loss at the time of delivery.
However, global statistics proves the leading role of thrombophilia in the development of pulmonary embolism in pregnant women (50%), while pulmonary embolism is the major cause of maternal mortality.
critical period for the manifestation of signs of thrombophilia in pregnancy is considered to be the tenth week of pregnancy and third trimester, when there are complications.
main thrombophilia complications during pregnancy are:
- multiple abortions late in pregnancy;
- stillbirth in the third trimester;
- placental detachment, accompanied by a massive, prolonged bleeding, life-threatening maternal and child;
- premature birth;
- lag in the development of the fetus due to malnutrition, as in placental vessels are located clots, preventing normal blood flow;
main criteria for additional testing of pregnant women for the presence of genetic thrombophilia are:
- a history of family episodes thrombophilia;
- thrombosis recurrent nature is not only a pregnant woman but also her immediate family;
- early pre-eclampsia, stillbirth and recurrent miscarriages history.
Women with hereditary thrombophilia and pregnancy planning, it is necessary to observe a number of measures aimed at preventing possible complications.These mandatory preventive conditions include lifestyle modification (avoiding lifting heavy objects and works related to prolonged standing), normalization of eating behavior (except for fatty and spicy food), use of medical compression hosiery items, regular exercise physical therapy.
at diagnosis "thrombophilia" treating pregnant women must deal not only with the gynecologist, a geneticist and a hematologist.In addition to drug therapy should follow a special diet diet.As food should prefer seafood, dried fruits and ginger, as they contribute to a decrease in blood clotting.
Modern approaches to the management of pregnancy, aggravated thrombophilia imply preterm delivery at 36-37 weeks term to prevent thromboembolic complications.Subject to compliance with all the recommendations of the doctors and of adequate preventive therapy prognosis for thrombophilia during pregnancy can be beneficial.
analysis for thrombophilia
main method of diagnosis of thrombophilia is a blood test.Blood on thrombophilia examined in two stages.The first stage is a screening and its main purpose is to detect disease in a particular unit of the coagulation system by performing non-specific blood tests.The second stage allows us to differentiate and specify the problem by carrying out specific analyzes.
Already during the screening tests can determine the following forms of thrombophilia:
- increased blood viscosity, and increased hematocrit hyperthrombocytosis allows hemorheologic suspected thrombophilia;
- to determine the level and multimeric von Willebrand factor, and increased hyperthrombocytosis aggregation ability of platelets indicate the presence of a patient thrombophilia due to violation of platelet hemostasis;
- screening tests, which determine changes in protein C and S, antithrombin III and the definition of held for diagnosis of thrombophilia, due to the lack of primary natural anticoagulants;
- counting time lyse fibrin, thrombin clotting time determination and changes in the proteins C and S are directed to detect thrombophilia-related disorders of plasma coagulation factors;
- screening tests such as "cuff test", the definition of deficiency of tissue plasminogen activator and the overstatement of its inhibitors, counting euglobulin lysis time, give evidence of the presence of thrombophilia due to violation of the fibrinolytic system;
- the presence of lupus anticoagulant evidence of autoimmune thrombophilia.
If a patient has the following parameters should think about the possible development of thrombophilia and its consequences in the form of thrombosis: erythrocytosis, polycythemia, low ESR, increased hematocrit, isolated hyperthrombocytosis.In addition, an isolated change in the size and shape of red blood cells may cause thrombus formation.
Absolute indications for the examination of the patient for signs of thrombophilia are episodes of thromboembolism at a young age, diagnosed thrombosis of mesenteric vessels and the vessels of the brain, symptoms of purpura in the newborn, the presence of thrombosis in the immediate family, repeated miscarriages, and underdevelopment of the fetus.
treatment of patients with thrombophilia involved specialists from various fields of medicine - the study and correction of changes in the blood involved hematologist, phlebologist treats phlebothrombosis and thrombophlebitis, and in the absence of effect of conservative treatment at the forefront of surgical treatment methods thatused by vascular surgeons.
treatment of patients diagnosed with thrombophilia should be comprehensive and personalized.First of all, you must take into account the etiopathogenetic mechanisms of thrombophilia, because without addressing the root cause of the disease is impossible to achieve good results from the treatment.Also pathogenetic directions in the treatment of all patients underwent conventional regimen of thrombosis in medical and prophylactic doses.When thrombophilia is not assigned to any specific therapy and treatment of this condition similar as in thrombosis.
generally accepted recommendations regarding diet should be considered: limit fried and fatty foods, the total exclusion of products with high cholesterol levels (organ meats, fatty meats and fish, animal fats).In large quantities should be consumed fresh greens, raw vegetables and fruits and dried fruits, which contribute to the rapid disposal of low-density lipoprotein, provoking the formation of atherosclerotic plaques in the lumen of blood vessels.
Thus, when thrombophilia related to rheological changes and polycythemia, good results are achieved by the method of appointment of antiplatelet (aspirin 100 mg 1 time per day, Curantil 1 tablet in the evening) and the selection of individual schemes of anticoagulation (warfarin 2.5 mg once a day 1p.o.).The appropriateness of additional techniques in this situation are: gemodelyutsiya and therapeutic phlebotomy.
indication for anticoagulant therapy are: the presence of a thrombus confirmed by imaging studies, the combination of more than three risk factors tromboorazovaniya the first 6 weeks after delivery.
thrombophilia due to lack of coagulation factors and antithrombin III need for exchange transfusion of large volumes of fresh frozen plasma (up to 900 ml per day intravenously), that it is advisable to combine with heparinization.
Giperagregatsionnye thrombophilia, accompanied by a sharp deficit of fibrinolytic blood components (thrombocytopenic purpura, Moszkowicz disease) need to combine a massive plasmapheresis and jet-drip of fresh frozen plasma.
In the case of hereditary thrombophilia due to congenital antithrombin deficiency III, in first place in the treatment goes replacement therapy.Typically, in this situation has no heparin has a positive result, and in contrast when administered together with heparin gemopreparatov may provoke bleeding complications.Therefore it recommended administering preparations containing antithrombin III 3 hours after the last dose of heparin.
Efficacy was monitored by laboratory tests.Thus, a positive result is considered the treatment time extension coagulation 3 times.