Nosebleeds may be a sign of von Willebrand disease

Among hereditary hemorrhagic diatheses, von Willebrand's disease is the 3rd most common after hemophilia A and thrombocytopathies. Pathology occurs with a frequency of 2 cases per 10 thousand of the population. The development of von Willebrand disease is associated with mutations in the chromosome of the von Willebrand factor gene. Pathology can be inherited both autosomal – dominant type, and recessive type.  Symptoms of the disease can be detected already in the first months of life. How does von Willebrand disease manifest itself? What treatment is required for pathology?

Clinical presentation of mild von Willebrand disease

More details about the causes, mechanisms of blood clotting disorders in von Willebrand disease, as well as the types of the disease were described in the previous article.

Willebrand's disease is manifested by hemorrhagic syndromes of varying intensity, which depends on the severity of the process, concomitant pathologies and the type of course of the disease.

In mild forms of von Willebrand disease types 1 and 2, the first symptom is spontaneous nosebleeds.

 The appearance of subcutaneous and intradermal hemorrhages in the form of ecchymosis and petechiae, prolonged bleeding after injuries, minimally invasive surgical interventions and tooth extraction are typical. Women experience heavy periods and uterine bleeding, and childbirth is accompanied by excessive blood loss.

Manifestations of severe von Willebrand disease

Severe variants of the course, as well as the 3rd type of von Willebrand's disease, clinical symptoms are very similar to the picture of hemophilia.

The disease is accompanied by the frequent appearance of painful soft tissue hematomas and subcutaneous hemorrhages. There are hemorrhages in large joints, and hemarthroses appear with little physical activity or even when walking.

There is prolonged bleeding from injuries, operations, bleeding from the nose, gums and organs of the stomach – intestinal tract. After injuries, rough scars often form. Willebrand's disease with a severe course is detected during the first months of a child's life. Hemorrhagic syndrome in the disease alternates with the complete disappearance of symptoms for a while. A pronounced clinical picture leads to severe post-hemorrhagic anemia.

Diagnostic aspects. Laboratory signs of von Willebrand disease

To establish a diagnosis, it is important to clarify the family history, compare the clinical picture of the disease and the data of laboratory studies of vascular-platelet and plasma hemostasis. For this, the following studies are assigned:

• biochemical blood test;
• coagulogram with specification of fibrinogen level, platelets and blood clotting time;
• prothrombin index;
• APTT.

A tourniquet test and a pinch test are mandatory. In order to confirm von Willebrand disease, the level of von Willebrand factor in the blood serum, as well as its activity, is determined. Research is underway on ristocetin – cofactor activity using immunoelectropheresis and ELISA methods. Also informative is the study of the platelet activation factor, the activity of VІІІ blood coagulation factor and platelet aggregation, especially with normal levels of von Willebrand factor and VІІІ coagulation factor (with type 2 disease).

Willebrand's disease is differentiated from hemophilia and hereditary thrombocytopenia. To establish a diagnosis, a consultation of a geneticist and a hematologist is needed.

Laboratory signs of von Willebrand disease:

• decreased activity and level of von Willebrand factor;
• prolongation of bleeding time;
• Violation of the aggregation and adhesive function of platelets.

Do I need permanent treatment for von Willebrand's disease?

Willebrand's disease with an asymptomatic course with moderate hemorrhagic syndrome does not require permanent treatment. But patients still have an increased risk of bleeding. Treatment is required if bleeding complications occur.

The goal of treatment is to correct the deficiency of the clotting factor. For replacement therapy, transfusions of antihemophilic plasma and cryoprecipitate, which contains a high content of von Willebrand factor, are indicated, but in lower doses than in hemophilia.

Light and moderate bleeding is an indication for the appointment of aminocaproic or tranexamic acid. Stopping bleeding from a wound is possible with the use of a hemostatic sponge or fibrin glue. The presence of repeated uterine bleeding is an indication for the appointment of COC, in the absence of effect, hysterectomy is performed.