Von willebrand disease is hereditary bleeding disorder that occurs due to deficiency of Von- Willebrand factor (VWF). Von Willebrand factor is a type of protein that is essential for blood clotting. Normally bleeding occurs because of rupture of blood vessel. Platelets are component of blood that helps to plug the ruptured vessel in order to stop bleeding. VWF is a protein in platelet that helps it to form a clump or clot when the vessel is ruptured.
When there is lack of Von Willebrand factor, platelets become dysfunctional leading to prolonged bleeding if the blood vessel is broken.At least 1 percent of people in United States suffer from von willebrand disease. People with Von Willebrand disease bleed heavily after an injury or surgery or even tooth extraction. There is no cure for this genetic disease. However, with proper personal care and treatment most people suffering from this disorder can live active and normal life.
What Causes Von Willebrand Disease?
Von Willebrand disease is caused due to mutation of genes. It is an inherited disease. The defective gene can be passed from one or both the parents. Defect occurs in the gene that controls Von Willebrand factor (VWF), a protein present in platelets that is meant for clotting purpose.When this protein is lacking the platelets cannot initiate its clotting mechanism to block and clump the bleeding vessel. Hence there is uncontrolled bleeding.
Von Willebrand disease is of several types, specific type depends on whether mutated gene is from one parent of both the parents. VWF also contain another clotting factor called factor VIII which stimulates clotting in case of bleeding from ruptured vessel. People who have low level of VWF also have lack of factor VIII.
Types Of Von Willebrand Disease
There are three main types of Von Willebrand disease;
- Type 1: Almost 60 to 80 percent people suffer from this variety. In this type, Von Willebrand factor is low to some extent. The signs and symptoms of this type are usually mild.
- Type 2: At least 15 percent suffer from this type. There are numerous sub-types such as type 2A, type 2B, type 2M and type 2N. Although in this type there is normal amount of Von Willebrand factor, there is defect in its structure, hence its function is jeopardized.
- Type 3: It is the most serious variety of all three as Von Willebrand factor is completely absent. People having this type of Von Willebrand disease can have profound bleeding which may be life threatening.
Symptoms Of Von Willebrand Disease
The symptoms will depend on type of Von Willebrand disease. Men and women are equally affected from the disease. However, the severity of bleeding is far more in women because of menstruation and childbirth. The most common symptoms that are observed in all the types are as follows:
- Severe bleeding after an injury or a surgery or tooth extraction.
- Bleeding from nose (epistaxis) that does not stop in 10 minutes.
- Woman having severe and long time bleeding during menstruation. Bleeding continues for more than 7 days. Woman has to change pads every hour as it is soaked heavily with blood.
- Easy bruising after minor trauma. It may develop into a lump of blood.
- Severe bleeding at the time of childbirth.
- Due to heavy bleeding, patient suffers from anemia, tiredness and fatigue.
In type 3 Von Willebrand disease, bleeding is intense because of complete absence of Von Willebrand factor. Patient may also bleed internally in stomach, intestine and in joints with minor trauma.
Treatment Options For Von Willebrand Disease
Von Willebrand disease is a lifelong disease. But if it is well managed patient can live considerable normal life. Treatment is focused on preventing bleeding and to stop the episode in case if there is severe bleeding. The treatment also depends on the type of Von Willebrand disease. Doctors prescribe drugs that help to increase Von Willebrand factor and to strengthen the blood clot. In women control of heavy menses bleeding is essential. Certain synthetic hormone that is similar to vasopressin is used in the form of nasal spray or injection to control bleeding. It stimulates production of more VWF from the cells of blood vessels. It is used for treatment of type 1 and type 2 Von Willebrand diseases.
- Certain concentrates of clotting factors that are rich in Von Willebrand factor are also used as intravenous infusion to prevent excessive bleeding.
- To prevent breaking of the clots, antifibrinolytics are used. These medicines are used before tooth extraction and to treat nasal bleeding and menorrhagia. Antifibrinolytics are taken either as oral tablets or in liquid form.
- Contraceptives are useful in controlling excessive bleeding in women during their periods.
Certain home care tips are helpful to such patients:
- Avoid taking painkillers such as aspirin and blood thinning medicines.
- The physician or dentist must be informed if the patient is suffering from Von Willebrand disease before surgery or any dental surgery.
- Exercise safely for maintaining healthy weight. Avoid sports activities such as football, hockey etc.