Von Willebrand's disease

Angiohemophilia, or, in other words, Willebrand's disease (also referred to as "atrombocytopenic purpura") is a blood disorder characterized by a decrease in blood clotting capacity and is inherited by an autosomal dominant or autonomic recessive type. This pathology occurs at a frequency of 1: 1000. The life expectancy of sick people is not reduced, but there is always a high probability of developing a life-threatening bleeding.

The cause of this disease is the lack of a specific substance (vWF) contained in the vessel wall and acting as a stabilizer and carrier of factor VIII (or anti-hemophilic globulin A) of the blood coagulation system. As a result, platelets adhere to the wall of blood vessels, agglutination with each other, coagulation of blood cells decreases and bleeding time increases.

Von Willebrand's disease has several types.

Type 1. It is characterized by an inadequate amount of von Willebrand factor with unchanged chemical structure. It occurs in about 75% of patients with this diagnosis. Autosomal dominant type of inheritance.

Type 2. The changes affect the spatial structure of von Willebrand factor at normal concentration in the blood. Clinically observed in 5-15% of patients. There are several subtypes (A, B, M, N). Inheritance can occur both in the autosomal dominant and autosomal recessive type.

Type 3. The most heavily leaking form. Characterized by a very low level of von Willebrand factor in blood plasma (less than 10% of the norm). Diagnosed less than 5% of patients. Inheritance proceeds according to the autosomal recessive type.

Thrombocyte type. Due to mutations inherited in the autosomal dominant type, there is a disruption in the structure of the receptor complex of platelets, which binds to the von Willebrand factor.

Acquired type. Occurs during life as a result of autoimmune processes characterized by the appearance in the blood plasma of autoantibodies to the von Willebrand factor.

Due to the fact that there is such a multiformity of types of von Willebrand disease, the clinical picture can be very diverse. Hemorrhagic syndrome can range from mild forms with predominance of nasal and gingival hemorrhages to severe forms occurring with abundant uterine and gastrointestinal hemorrhages. In childhood, the disease can be suspected by spontaneous bleeding from the nose and frequent bruising on the skin. Since the inheritance of the disease is not linked to sex chromosomes, the likelihood of affection between the representatives of both sexes is the same. However, women, due to constitutional and physiological characteristics of the body, are more likely to suffer this disease. Often develop debilitating menorrhagia, the probability of postpartum bleeding is high. This can lead to the occurrence of posthemorrhagic anemia. There is also a small probability of haemoarthritis, which does not lead to serious impairment of motor function.

How to diagnose von Willebrand disease?

This is a rather difficult process. Diagnosis of the disease is based on numerous instrumental tests that determine the state of blood vessels; A blood test that reveals the level of activity of von Willebrand factor, the rate of blood clotting, the possible presence of autoantibodies in the blood plasma. It is necessary to resort to genetic counseling to determine the nature of inheritance and the risk of developing the disease in subsequent generations.

Von Willebrand's disease can be treated on the basis of nonspecific and specific methods. With a nonspecific approach, a mechanical stop of bleeding, local hemostatics, aminocaproic acid (inhibits the activity of the fibrinolytic system of the blood), dicinone (increases thrombogenesis). With specific therapy, it is possible to use crypticipates, which contain coagulating agents and some coagulation factors.

Is it possible to prevent von Willebrand's disease?

As a preventive measure recommended light exercises that do not carry the risk of injury, as well as research before the conception of the child of the family tree of the family, whose members are carriers of the disease.