What is von Willebrand Disease?
Von Willebrand Disease is a bleeding disorder caused by a defect or deficiency of a blood clotting protein, called von Willebrand Factor. The disease is estimated to occur in 1% to 2% of the population. The disease was first described by Erik von Willebrand, a Finnish physician who reported a new type of bleeding disorder among island people in Sweden and Finland.

Von Willebrand Factor is a protein critical to the initial stages of blood clotting. This glue-like protein, produced by the cells that line the blood vessel walls, interacts with blood cells called platelets to form a plug which prevents the blood from flowing at the site of injury. People with von Willebrand Disease are unable to make this plug because they do not have enough von Willebrand Factor or their factor is abnormal.

Researchers have identified many variations of the disease, but most fall into the following classifications:

Type I: This is the most common and mildest form of von Willebrand disease. Levels of von Willebrand factor are lower than normal, and levels of factor VIII may also be reduced.

Type II: In these people, the von Willebrand factor itself has an abnormality. Depending on the abnormality, they may be classified as having Type IIa or Type IIb. In Type IIa, the level of von Willebrand factor is reduced, as is the ability of platelets to clump together. In

  Type IIb, although the factor itself is defective, the ability of platelets to clump together is actually increased.

Type III: This is severe von Willebrand disease. These people may have a total absence of von Willebrand factor, and factor VIII levels are often less than 10%.

Pseudo (or platelet-type) von Willebrand disease: This disorder resembles Type IIb von Willebrand disease, but the defects appear to be in the platelets, rather than the von Willebrand factor.

Von Willebrand Disease is a genetic disease that can be inherited from either parent. It affects males and females equally. A man or woman with VWD has a 50% chance of passing the gene on to his or her child. There are no racial or ethnic associations with the disorder. A family history of a bleeding disorder is the primary risk factor.

VWD subtype I and II are usually inherited in what is known as a "dominant" pattern. This means that if even one parent has the gene and passes it to a child, the child will have the disorder.

VWD Type III von Willebrand disease, however, is usually inherited in a "recessive" pattern. This type occurs when the child inherits the gene from both parents. Even if both parents have mild or asymptomatic disease, their children are likely to be severely affected.

Diagnosis of von Willebrand Disease can be difficult. Blood tests can be performed to determine the amount, structure and function of von Willebrand Factor. Since levels can vary, sometimes tests may need to be repeated. A person suspected of having von Willebrand Disease should be referred to a hematologist who specializes in the diagnosis and treatment of bleeding disorders.

Usually, people with VWD bruise easily, have recurrent nosebleeds, or bleed after tooth extraction, tonsillectomy or other surgery. Recurrent nosebleeds are also a hallmark of VWD. Women can have increased menstrual bleeding.

For minor bleeds, treatment may be unnecessary. There are a range of treatment choices that depend on whether the VWD is mild or severe.

Specific Treatments
Desmopressin (DDAVP) is a synthetic hormone that you usually take by injection or nasal spray. It makes your body release more von Willebrand factor and factor VIII into your bloodstream. DDAVP works for most people who have type 1 VWD and for some who have type 2 VWD.
Von Willebrand factor replacement therapy is an infusion of a concentrate of von Willebrand factor and factor VIII into a vein in your arm. This treatment may be used if you:
• Can't take DDAVP or need extended treatment
• Have type 1 VWD that doesn't respond to DDAVP
• Have type 2 or type 3 VWD

Antifibrinolytic medicines help prevent the breakdown of blood clots. They're mostly used to stop bleeding after minor surgery, tooth extraction, or an injury. These medicines may be used alone or together with DDAVP and replacement therapy.
Fibrin glue is medicine that's placed directly on a wound to stop bleeding.

Treatments for Women
Treatments for women who have VWD with heavy menstrual bleeding include:
• Combined oral contraceptives (birth control pills). The hormones in these pills can increase the amount of von Willebrand factor and factor VIII in your bloodstream and reduce menstrual blood loss. Birth control pills are the most recommended birth control method for women who have VWD.
• A levonorgestrel intrauterine device. This is a contraceptive device that contains the hormone progestin. The device is placed in the uterus (womb).
• Aminocaproic acid or tranexamic acid. These antifibrinolytic medicines can reduce bleeding by slowing the breakdown of blood clots.
• DDAVP.
For some women who are done having children or don't want children, endometrial ablation is done. This procedure destroys the lining of the uterus. It has been shown to reduce menstrual blood loss in women who have VWD.
If you need a hysterectomy (surgical removal of the uterus) for another reason, this procedure will stop menstrual bleeding and possibly improve your quality of life. However, hysterectomy carries its own risk of bleeding complications.
 

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