Von Willebrand Disease

Von Willebrand disease is the most common hereditary blood coagulation disorder. Itr occurs in both sexes in about one person from a thousand. This makes it a much more common disease that the well-known hemophilia.


The cause is a series of possible genetic mutations that affect the quantity or quality of the so-called Von Willebrand factor. This substance has a very important function in the process of blood clotting. The blood clotting includes proper local aggregation of platelets that are reinforced by fibrin fibers. The fibrin substance is formed in complicated series of reactions that are known as the coagulation cascade. The coagulation cascade includes many proteins (marked by Roman numbers) and the Von Willebrand factor is necessary for proper function of the coagulation factor VIII. In addition, Von Willebrand factor helps the right aggregation of the platelets.


Patients with Von Willebrand disease have impaired clotting mechanism. Their bodies have either decreased amount of Von Willebrand Factor, or reduced its function. This results in increased tendency to bleeding manifesting as easy bruising, and recurrent nosebleeds. Woman suffer from stronger menstrual bleeding and bleeding during the. The patients may find blood in stool or blood in urine. Severe cases of the disease have been reported to cause even bleeding into the joints.


Generally speaking, it is necessary to grow suspicious of a bleeding disorder (from the medical history of patient's problems) and examine the blood count and various hematologic tests of the blood clotting. The diagnosis can be confirmed by genetic testing, which may determine the specific mutation that is responsible for the disorder.


Prevention of this disease is not possible because it is a genetically determined congenital condition. When the Von Willebrand disease has been diagnosed, it is advisable to prevent any major injuries because of large risk of severe hemorrhage. Extreme sports are definitely not recommended.


The treatment is usually not necessary, but the patients with diagnosed Von Willebrand disease should actively inform any doctor about their condition, especially prior to planned operations. An elegant though expensive solution is regular administration of injections with concentrated solution of the von Willebrand factor. This supplementation is usually given only occasionally before planned surgical interventions to reduce the perioperative bleeding.


Jiri Stefanek, MD  Author of texts: Jiri Stefanek, MD
 Contact: jiri.stefanek@seznam.cz
 Sources: basic text sources