Symptoms of thrombocytopathy

Symptoms of acquired and hereditary thrombocytopathies are characterized by bleeding of the vascular-platelet (microcirculatory) type: petechiae, ecchymosis (hemorrhage into the subcutaneous fatty tissue), bleeding from the mucous membranes of the nose, gums, and genito-urinary organs.

Hemorrhagic syndrome is characterized by polymorphism, asymmetry, polychrome and combined character (petechiae or ecchymosis and bleeding from the mucous membranes), different degrees of hemorrhage depending on the effect of exogenous platelet inhibitors. Typical long bleeding with small cuts and injuries. In contrast to hemophilia, hemarthroses and muscle hematomas are not characteristic.

With different variants of platelet defect, the severity of the disease varies from slight bleeding (tendency to "blue" for minor injuries skin hemorrhages with "rubbing" the body of clothing, on the place of compression by elastic bands or at energetic pressure on the limb periodic nevushnye bleeding "family" long menstruation in women etc.) to abundant nasal, uterine, gastrointestinal bleeding, common dermal purpura. Often, small surgical interventions cause excessive bleeding. Cutaneous hemorrhagic syndrome can be in the form of petechiae, ecchymosis. Often, "minimal bleeding" is so common among relatives that this is explained by "family weakness of blood vessels," "family sensitivity," etc. It is in patients with hereditary thrombocytopathy that bleeding usually develops as a complication after taking medications that millions of people of this reaction do not cause. They have frequent nasal bleeding in infections. Prolonged torpid for routine hematuria therapy can also be a manifestation of thrombocytopathy (usually in such patients in the history or at the time of the examination, you can find other manifestations of increased bleeding). The time of appearance of the first signs of bleeding may be very different, but more often it is the early or preschool age. In spring and winter, bleeding is more pronounced. The most persistent and severe haemorrhagic syndrome of the listed hereditary thrombocytopathy is noted with thrombastenia.

Glanzmann's thrombia

At the heart of the disease is a genetically determined decrease in the glycoprotein IIb-IIIa content on the surface of platelet membranes, resulting in the inability of platelets to bind fibrinogen, aggregate between cells and cause retraction of the blood clot. Diagnosis of Glanzmann thrombasthenia is based on the absence of platelet aggregation in response to the action of physiological activators (ADP, thrombin, collagen, adrenaline) and the absence or insufficient retraction of the blood clot. At the same time, platelet aggregation with ristocetin is not impaired.

Bernard Soulier Syndrome

Thrombopathy inherited from a recessive-autosomal type, the basis of which is the absence of glycoprotein b receptors (glycocalcin) on the surface membrane of platelets. The clinic is characterized by moderate thrombocytopenia, giant platelet sizes (up to 5-8 microns), absence of platelet aggregation in response to the addition of ristocetin, bovine fibrinogen aggregation with ADP or collagen is preserved.

Congenital then the immune form of thrombocytopenia

The congenital isoimmune form of thrombocytopenia occurs when the fetus has a PLAI platelet antigen and its absence from the mother. As a result, there occurs sensitization of the pregnant woman, the synthesis of antiplatelet antibodies, which through the placenta penetrate to the fetus and cause lysis of platelets in it.

Symptoms of the Bernard-Soulier syndrome. In a newborn in the first hours of life appear on the skin of petechial and small-spotted hemorrhages. With more severe course and late appearance of hemorrhagic syndrome, hemorrhages on mucous membranes, as well as umbilical bleeding and intracranial hemorrhages may appear. There is an increase in the spleen.

Diagnosis of the Bernard-Soulier syndrome. The diagnosis is confirmed by the presence of thrombocytopenia and a positive reaction of thromboagglutination of the child's blood plates in the mother's blood serum. Thrombocytopenia lasts from 2-3 to 12 weeks, despite the fact that hemorrhagic syndrome is stopped from the beginning of therapy in the first days of life.

Transimmunal, congenital transient thrombocytopenia of newborns

This form of thrombocytopenia develops in newborns born to mothers with idiopathic thrombocytopenic purpura. The reason for the development of this form of thrombocytopenia is that the autoantibodies of the mother through the placenta reach the fetus and cause platelet lysis in it. The clinic may be weakly expressed, thrombocytopenia is transient.

Clinical and anamnestic data on the type of bleeding and its type (hereditary or acquired) are supplemented by laboratory tests of hemostasis evaluation for the purpose of detecting thrombocytopathy, which is determined by: the number, size and morphology of platelets, the presence of antiplatelet antibodies (in thrombocytopenia), bleeding time, adhesion of platelets to fiberglass, induced platelet aggregation under the influence of ADP, thrombin, arachidonic acid and other aggregates retraction of the blood clot thrombotic ultrastructure itov under electron microscopy typing membrane receptors specific mono- and polyclonal antibodies.

To establish the hereditary nature of thrombocytopathy and determine the type of inheritance, pedigrees are compiled with the involvement of relatives of three degrees of kinship, who have increased bleeding.

In autosomal dominant inheritance, the same type of disorder in the thrombocyte hemostasis is traced in vertical manifestations in each generation in the recessive type of inheritance, the disease manifests itself in erased forms in the lateral branches of the pedigree.

Diagnosis and differential diagnosis of thrombocytopathy. Thrombocytopathy can be suspected already on the basis of anamnesis. It is compulsory to compile a pedigree with a thorough collection of information about the bleeding from relatives. Endothelial tests (cuff, tourniquet, can, on the resistance of capillaries), as a rule, are positive. The duration of bleeding may be prolonged. The number of platelets and the parameters of the blood coagulation system can be normal. The final diagnosis is possible only in the laboratory study of the properties of platelets: their adhesive capacity for glass and collagen (reduced only in diseases of Willebrand and Bernard-Soulier), aggregation activity with ADP, adrenaline, thrombin, collagen, ristocetin. In this case, the examination should be carried out in dynamics not only in the child, but also with his parents, as well as with "bleeding" relatives.

Atrombia, thrombocytopathy with a defect in the release reaction are inherited usually in an autosomal dominant type, so one of the parents of a patient has a defect in the properties of platelets. The thrombastenia is often inherited autosomally-recessively, and therefore the identification of a heterozygous carrier among parents can be difficult. At the same time, there are families with a dominant inheritance of thrombastenia.

Differential diagnosis is performed with other types of hemorrhagic diathesis, especially with Willebrand's disease (the diagnostic reference point is defective aggregation with ristocetin). Studying the state of the coagulation unit of hemostasis in patients allows eliminating the deficiencies of I, II, III, V and X coagulation factors, for which the microcirculatory type of bleeding is also characteristic.