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Willebrand's disease in children
Medical expert of the article
Last reviewed: 12.07.2025
Von Willebrand disease is a hemorrhagic disease, usually transmitted in an autosomal dominant manner, characterized by increased bleeding in combination with an increase in the duration of bleeding, a low level of von Willebrand factor in the blood or its qualitative defect, a decrease in the coagulant activity of factor VIII, low values of adhesion and ristocetin-aggregation of platelets. The gene for von Willebrand disease is localized on the short arm of chromosome 12 (12pl2-ter).
The disease was first described by Eric von Willebrand (1926) in a girl living on the Aland Islands, who had hematoma-type bleeding combined with a low level of factor VIII in the blood, a sharp increase in bleeding time and a dominant type of inheritance. It followed that the described disease is associated with a coagulation defect (low level of factor VIII) and vascular-platelet disorders (increased bleeding time). Von Willebrand factor is a glycoprotein produced by the vascular endothelium and megakaryocytes. When present in the blood in a free form, it participates in the adhesion of platelets to the microfibrils of the vascular wall, acting as a "bridge" connecting platelet receptors with the subendothelium when the endothelial layer is damaged. In addition, it is a carrier of the plasma component of factor VIII (VIII: VWF). The bulk of the von Willebrand factor is synthesized in the vascular endothelium and released into the bloodstream under the influence of thrombin, calcium ions, and 1-Deamino-8D-arginine vasopressin.
It has now been established that von Willebrand disease is not a single disease, but a group of related hemorrhagic diatheses caused by a disruption in the synthesis or qualitative anomalies of von Willebrand factor.
Symptoms of von Willebrand disease
The disease is characterized by two types of bleeding: vascular-platelet (typical for thrombocytopathy and thrombocytopenia) and hematoma (typical for defects in the coagulation link of hemostasis).
In severe cases of the disease (the level of von Willebrand factor in the blood is less than 5%), the clinical picture is practically indistinguishable from hemophilia: delayed bleeding from the umbilical cord stump, venipuncture sites, cephalhematomas, hematomas at the site of injuries, intracranial hemorrhages. With a higher level of von Willebrand factor, the vascular-platelet type of increased bleeding comes to the fore: spontaneously occurring ecchymosis, petechiae.
Hereditary von Willebrand disease
The cause of hereditary von Willebrand disease is polymorphism of the gene encoding the synthesis of the von Willebrand factor. Hereditary von Willebrand disease is the most common hemorrhagic disease. The frequency of carriage of the defective von Willebrand factor gene in the population reaches 1 in 100 people, but only 10-30% of them have clinical manifestations. It is transmitted by an autosomal dominant or recessive type and occurs in both girls and boys.
Diagnosis of von Willebrand disease
When diagnosing von Willebrand disease, a thorough study of the anamnesis is necessary, in particular, the identification of individuals with increased bleeding among parents. Also noted is a sharp increase in the duration of bleeding according to Duke, low aggregation of the patient's platelets with ristocetin (with normal aggregation activity of platelets with ADP, adrenaline and collagen), a reduced level of factor VIII and von Willebrand factor in the patient's blood plasma. Repeated studies are often necessary to establish a diagnosis. The most informative method is DNA diagnostics using polymerase chain reaction (the diagnostic value of this method is almost 100%).
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Treatment of von Willebrand disease
In most cases, transfusion of antihemophilic plasma at a dose of 15 ml/kg or other preparations of blood coagulation factor VIII at the same dose as for hemophilia A is effective.
Treatment of von Willebrand disease
For mild forms of bleeding, aminocaproic acid, etamsylate, intravenous or oral arginine vasopressin preparations can be prescribed.
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