Von Willebrand disease is a clotting disorder in which your blood lacks an essential protein called the Von Willebrand factor used for clotting blood. People with this disease either have a low level of Von Willebrand factor, or it does not function properly. This disease can cause a lifelong bleeding risk which can be debilitating for the affected person. There is no cure available for Von Willebrand’s disease, but some treatment measures and supportive care can improve life expectancy.
Von Willebrand disease has a genetic component linked to it. In most cases, the disease is inherited from one generation to another. The cause of this disease is an inherited abnormal gene that controls the Von Willebrand factor. In a healthy person, this clotting factor is necessary to stop bleeding because it functions to attach the platelets to each other and the walls of the damaged vessel. In people with Von Willebrand disease, there is either a deficiency of this clotting factor or impaired function. When a vessel injury occurs, your blood will not be able to clot properly by itself to stop bleeding.
Many patients with Von Willebrand disease also have a deficiency of another clotting protein called factor VII. Von Willebrand disease alone is comparatively milder, but if it occurs with factor VII deficiency, it can have serious consequences. In rare cases, some people may develop an acquired form of Von Willebrand disease due to an underlying medical condition.
Since Von Willebrand disease occurs primarily due to inheritance, you risk getting this disease if you have a positive family history. Most cases occur due to autosomal dominant inheritance, which means that if either one of your parents has this disease, there is a 50% chance that you will have it too. In rare cases, the condition occurs from autosomal recessive inheritance in which a mutated gene is required to be passed on from both your parents. This form is disease is more aggressive than the autosomal dominant form.
The incidence rate of Von Willebrand disease is 0.6 to 1.3%. Although Von Willebrand disease can occur due to inheritance, the symptoms may not show up at an early stage. It has been noticed that this disease is more prevalent among females than males.
The signs and symptoms of Von Willebrand disease vary from person to person. Some people are asymptomatic or have very mild symptoms despite carrying the mutated gene. Others may have moderate to severe symptoms. Common symptoms of Von Willebrand disease are excessive bleeding after dental work or surgery, spontaneous bleeding from gums, frequent nosebleeds, heavy or prolonged menstrual bleeding, heavy bleeding during labor and delivery, and frequent bruises and blood in urine or stool. Women are more likely to experience the complications of this disease, especially during menstruation, pregnancy, and childbirth. Women with this disease will have to change their tampons or pads much more frequently than those without them. They may also develop anemia, tiredness, or weakness during menstruation.
Your doctor will require your medical and family history to suspect if you have an inherited bleeding disorder. A physical examination can include looking for signs of bleeding or bruises. Your doctor will likely refer you to a hematologist for further investigation. They will perform specific blood tests to reach an accurate diagnosis. These tests include Von Willebrand factor antigen test, Von Willebrand factor activity, factor VII clotting activity, and Von Willebrand factor multimers. Because of the detailed nature of these tests, it may take up to 2 to 3 weeks for the results to be delivered. If you test positive for Von Willebrand disease, your doctor will also recommend that your close family members get tested to evaluate if this condition runs in the family.
Von Willebrand disease should be differentiated from other clotting and bleeding conditions such as platelet disorders, hemophilias, and thrombophilias. Differentiation can be done through family history and specific diagnostic tests.
Although there is no cure for Von Willebrand disease, treatment options can help reduce bleeding episodes. Treatment depends on the severity of your condition. For some cases of Von Willebrand disease, a medication known as desmopressin is prescribed. It is a synthetic hormone injected into your body to stimulate the release of the Von Willebrand factor. This is called non-replacement therapy. Replacement therapy is another option reserved for specific cases of this disease. In this case, Infusion of blood rich in Von Willebrand factor and other clotting factors is done. Another advanced option is to infuse genetically engineered proteins that can replace the function of the Von Willebrand factor.
If you are a woman with Von Willebrand disease, your doctor may recommend using oral contraceptives to avoid pregnancy and reduce the risk of heavy bleeding during the menstrual cycle. Clot-stabilizing medications such as aminocaproic acid and tranexamic acid.
Most people with a mild Von Willebrand disease can normally live without major issues. Those with moderate or severe forms can benefit from different treatment options. People with a severe form of the disease require constant monitoring to avoid the risk of complications.
Von Willebrand disease cannot be prevented because it is an inherited disease in most cases. Genetic assessment of the family members may help in early diagnosis if it is present. Women of childbearing age with this disease are especially counseled to consider the risks of conceiving a baby beforehand.
Our clinical experts continually monitor the health and medical content posted on CURA4U, and we update our blogs and articles when new information becomes available. Last reviewed by Dr.Saad Zia on June 02, 2023.
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