Hematogenous thrombophilia

Thrombophilia hematogenous - a condition characterized by a tendency to develop recurrent thrombosis of blood vessels (mainly veins) of different locations due to disorders in blood composition and properties.

Etiology, pathogenesis. There are two main groups of hematogenic thrombophilia:

  1. Associated mainly with changes in the rheological properties and cellular composition of the blood;

  2. Primary disorders in the hemostasis system.

In the first group, forms associated with excess blood cells and its thickening (polycythemia, erythrocytosis, thrombocythemia, etc.), with irregularities in the shape and deformation of erythrocytes (for example, multiple thromboses and infarcts in sickle cell anemia), with an increase in plasma viscosity (myeloma disease , Waldenstrom's disease, cryoglobulinemia, etc.). In the second group, the following forms are distinguished: a) associated with an increase in the aphegic function of platelets (including due to imbalance between stimulants and inhibitors of aphasia in the blood plasma); B) associated with hyperproduction and hyperactivity of von Willebrand factor; C) associated with deficiency or anomalies of the main physiological anticoagulants-antithrombin III, proteins C and S; D) associated with deficiency or anomalies of clotting factors and components of fibrinolytic and kallikreinkinin system (deficiency of factor XII, plasma precalycrein, high-molecular kininogen, plasminogen activator, a number of molecular anomalies of fibrinogen, etc.). All these disorders can be hereditary, i.e., genetically conditioned, and acquired (symptomatic).

Clinical picture. The severity of thrombophilia, frequency and severity of thromboembolism depend on the degree of hematologic disorders and associated (background) conditions, pathological processes and effects. Thus, in polycithemia, the severity of the thrombotic process depends on the degree of polyglobulosis and blood thickening (the increase in hemoglobin and hematocrit), as well as the severity of hyperthrombocytosis. With a deficiency of antithrombin III, proteins C and S, the degree of severity of thromboembolic syndrome depends entirely on the magnitude of the decrease in the corresponding anticoagulants in the patient's plasma and is often provoked by heavy physical exertion, trauma, intravenous manipulation, surgical intervention, pregnancy.

In particular, the following fadings of thrombophilia are distinguished with an antithrombin deficiency of 111: 1) severe forms with recurrent spontaneous thromboembolism and organ infarctions beginning with a young (up to 20-35 years) age - with an antithrombin III level below 40%; 2) borderline forms with rare spontaneous thrombosis, but the natural development of thromboembolism (in young and middle age) after injuries, surgeries, high physical stresses, in childbirth and under stressful situations (antithrombin III level -40-65%); 3) the potential form - spontaneous thrombosis is absent, but they easily arise after intravenous manipulation (patients do not tolerate veins), with prolonged immobility (hypodynamia, sedentary work), with obesity and all the provoking factors listed in the previous paragraph (the level of antithrombin III is in Within the limits of 6-75%).

It should be borne in mind that the use of contraceptive hormonal drugs that further reduce the level of antithrombin III, prolonged treatment with heparin, and the intake of fibrinolysis inhibitors can also provoke thrombosis against a background of a relatively small initial deficit of this anticoagulant or other thrombophilic conditions. Such thrombophilia often clinically debut in the development of cancer (lung, kidney and other localizations), being sometimes an early sign of an undetectable tumor [Tussaud's syndrome]. Clinically, all thrombophilias are characterized by recurrent multiple thromboses of different locations, thromboembolism in the pulmonary artery basin, and organ infarcts, which develop, as a rule, in patients of relatively young age.

The diagnosis is based on the identification of a tendency to thrombosis at a relatively young age, frequent polytopy of the process, intolerance of intravenous manipulation, the identification of a family predisposition to thrombosis ("thromboembolic family") and on the characteristic laboratory signs of a particular type of thrombophilia.

Treatment should be pathogenetically justified, since the use of only conventional methods of thrombosis therapy is often not effective enough. In forms associated with changes in rheological properties and cellular blood composition, along with anticoagulants and deaagregants (acetylsalicylic acid, quarantil), bloodletting (leeches), hemodilution methods-erythrocyte- and thrombocytopheresis, rheopolyglucin, specific treatment of polycythaemia and thrombocythemia (see Leukemia) . With a shortage of clotting factors and anticoagulants (antithrombin III, etc.), jet replacement transfusions of significant amounts of freshly frozen or fresh plasma (300-600-900 ml / day) in combination with heparinization and the use of disaggregants (without plasma transfusions or when drastically introducing it Heparin with an antithrombin III deficiency is ineffective). Substitutions of the cryoplasm are also used in the deficit of the components of the fibrinolytic and kallikreinkinin system, as well as with some hyperaggregational thrombophilia (with thrombotic thrombocytopenic purpura or Mosshkovich disease, the life of patients can be saved only by rapid replacement of plasma transfusions, ie, by the combination of massive plasmapheresis with jet-drop Introductions of fresh frozen plasma). Otherwise, traditional methods of treatment of thrombosis-anticoagulants, thrombolytics and other medicines are used.

Prevention. Identification of people with thrombophilia and families with a tendency to thrombosis, timely detection of thrombophilia, mass screening of them can effectively prevent and treat thromboembolism. Elimination of provoking and contributing to the manifestation of disease factors (fighting against hypokinesia, obesity, excessive physical exertion, cooling, refusal of intravenous manipulation and taking hormonal contraceptives), timely connection to traditional antithrombotic therapy and prevention of correction of rheological properties of blood, replacement cryoplasmic therapy and plasma- Or cytapheresis can significantly alleviate the course of thrombophilia, provide a warning or a rapid arrest of the thromboembolic process. In many forms, long-term (up to 1 year or more) use of prolonged-release anabolic hormones-stanazolol, retabolil, and others: under the influence of which the synthesis in the endothelium of antithrombin III and the activator of fibrinolysis increases, trophic changes in the tissues of the limbs are weakened.

The prognosis depends on the form and severity of thrombophilia, the effectiveness of treatment of the main and background forms of pathology (polycythemia, etc.), the degree of deficiency of major anticoagulants and fibrinolysis activators, violations of antiaggregatory activity of the vascular wall and blood. In severe forms, patients often die or are disabled at young and middle age from thromboembolism and infarction of organs. Timely recognition of the essence of the disease and conducting substitution therapy and hemocorrection significantly improve the prognosis.