Von Willebrand's disease is the most common congenital hemorrhagic diathesis - a disease whose essence is blood clotting disorder, which is manifested by a tendency to excessive or prolonged bleeding. Such bleeding is very serious and in some cases can even be fatal. What are the causes and symptoms of von Willebrand disease? What is the treatment?

Von Willebrand disease(von Willebrand disease - vWD) is a congenital bleeding disorder associated with deficiency or impairment of the function of von Willebrand factor, a protein found in the bloodstream that is essential for blood to she could clot. The vWD factor helps the platelets stick to each other and the edges of the wound, thereby stopping bleeding. Additionally, the vWD factor forms a complex with another factor responsible for clotting - factor VIII - protecting it from degradation.

Von Willebrand disease is the most common congenital bleeding disorder - it occurs with a frequency of 125 people per 1 million population, i.e. twice as often as hemophilia A and B taken together.

Von Willebrand disease - causes

There are three types of von Willebrand disease:

Type 1 (mild, quantitative) is the most common (70% of cases) type of von Wielbrand's disease. Its cause is a slight deficiency of von Willebrand factor. The disease is inherited in an autosomal dominant fashion (one normal copy and one defective copy of the gene are inherited, but the defective one either dominates or becomes more important than the normal copy) and is more common in women than in men.

Von Willebrand disease has a genetic background - it is inherited from parents

Type 2 (qualitative) - in this case the von Willebrand factor is produced in the correct amount, but its structure and functions are disturbed. The disease may be inherited in an autosomal recessive or dominant manner (depends on the disease subtype - 2A, 2B, 2N and 2M).

Type 3 (severe; virtually no von Willebrand factor) is inherited autosomal recessively (you must inherit one altered copy from each parent for symptoms of the disease to develop). Patients with this type of von Willebrand disease are usually descendants of parents with type 1.

There is alsoacquired von Willebrand syndrome(AvWS),which manifests itself similarly to congenital von Willebrand disease. In this case, the deficiency or disturbances in the activity of the vWS factor most often occur as a result of the action of autoantibodies directed against the factor. The disease occurs at a later age and most often accompanies other diseases, such as lymphoproliferative diseases, cardiovascular diseases, autoimmune diseases and some non-haematological cancers.

Von Willebrand disease - symptoms

The symptoms of von Willebrand disease are:

  • nose bleeds - this is the most common symptom
  • tendency to bruise easily
  • a significant problem in women is heavy and prolonged periods
  • bleeding gums
  • gastrointestinal bleeding

In addition, they may appear:

  • post-traumatic bleeding
  • in women postpartum hemorrhages
  • postoperative bleeding

Type 1 of von Willebrand disease is mild, but it should be noted that only 65 percent of the sick have obvious symptoms.

In type 2, the severity of bleeding is variable, but usually moderate.

In type 3, apart from nose and gum bleeding and easy bruising, about 50% of of cases, there are spontaneous intra-articular bleeding and post-traumatic muscle bleeding.

Important

Do you have heavy periods? It could be von Willebrand's disease

Women with heavy periods that require a pad or tampon change more than hourly, cause iron deficiency anemia, or have blood clots larger than 2.5 cm in diameter should check for Von Willebrand Disease .

Von Willebrand disease - diagnosis

Following the 2008 recommendations of the Polish Society of Hematologists and Transfusion Medicine, the following tests are performed when von Willebrand's disease is suspected:

  • basic (screening) tests - blood count with platelet count and coagulogram, i.e. prothrombin time (PT), activated partial thromboplastin time (aPTT), fibrinogen concentration and thrombin time (TT)
  • assessment of factor VIII activity, ristocetin cofactor activity and concentration of von Willebrand factor

In type 3 disease, studies show significantly prolonged bleeding time (more than 20 minutes), decreased factor VIII and von Willebrand factor antigen activity. The activity of the cofactor ristocetin is also reduced. In types 1 and 2, both the bleeding time and the von Willebrand factor antigen and factor VIII activity may be within the normal range. It is loweredusually the activity of the cofactor ristocetin.

When diagnosing type 2 von Willebrand disease, specialist tests are performed to distinguish the disease subtypes from each other.

Von Willebrand disease - treatment

The goal of therapy is to prevent and treat bleeding. The patient is given desmopressin - a drug whose task is to release the stored von Willebrand factor into the blood. In addition, the patient receives plasma-derived factor VIII concentrates containing vWD factor to make up for its deficiency.

The therapy also includes drugs that support clotting, hormonal drugs and preparations that act locally, such as tissue adhesives that close external wounds.

Bibliography:

Mariańska B., Fabijańska-Mitek J., Windyga J.,Laboratory tests in hematology , PZWL Medical Publishing, Warsaw 2003

Sokołowska B.,Von Willebrand's disease - the most common plasma bleeding disorder , "Przegląd menopuzalny" 2010, No. 4

Category:

Cardiology