von Willebrand Disease




What Is von Willebrand Disease?

Von Willebrand disease is an inherited bleeding disorder. The disease is named after the doctor who discovered it, Erik von Willebrand. People born with the disease have one or both of the following:
Low levels of a protein called von Willebrand factor that helps the blood to clot
Von Willebrand factor that doesn’t work properly

When von Willebrand factor is missing or doesn’t work, it can cause prolonged bleeding after an injury or accident.

Types of von Willebrand Disease

Type 1

In type 1 von Willebrand disease, there is a low level of von Willebrand factor. The level of factor VIII may also be lower than normal. This is the mildest and most common form of the disease. About 3 out of 4 people diagnosed with von Willebrand disease have type 1.

Type 2

In type 2 von Willebrand disease, a defect in von Willebrand factor causes it to not work properly. Type 2 is divided into 2A, 2B, 2M, and 2N. Each is treated differently, so knowing the exact type is important.

Type 3

People with type 3 von Willebrand disease usually have no von Willebrand factor and very low factor VIII. Type 3 is severe and very rare.

What Causes von Willebrand Disease?

Von Willebrand disease is usually inherited—that is, passed in the genes from parent to child. Genes are located in the cells of the body and control how the cells make proteins, such as von Willebrand factor. Each cell in the body has two copies of every gene (except some genes related to gender). You inherit one copy from your mother and one from your father. In a person with von Willebrand disease, one or both of the genes that control the production of von Willebrand Disease are defective.

Type 1 and type 2 von Willebrand disease can develop if a person inherits one copy of the defective gene from one parent and a normal copy of the gene from the other. Type 1 and type 2 von Willebrand disease also can develop if the person inherits a defective copy of the gene from both parents. Type 3 von Willebrand disease develops only if a person inherits a defective von Willebrand gene from both parents. In rare cases, von Willebrand disease isn’t inherited, but develops due to other reasons later in life. This is called acquired von Willebrand syndrome.

What Are the Signs and Symptoms of von Willebrand Disease?

The signs and symptoms depend on the type and severity of the disease. Some people have the gene for the disease but don’t have bleeding symptoms. People with type 1 and type 2 von Willebrand disease may have the following mild-to-moderate bleeding symptoms:
  • Easy bruising
  • Nosebleeds
  • Bleeding from the gums after a dental procedure
  • Heavy menstrual bleeding in women
  • Blood in their stools (from bleeding in the intestines or stomach)
  • Blood in their urine (from bleeding in the kidneys or bladder)
  • Excessive bleeding after a cut or other accident
  • Excessive bleeding after surgery
Heavy menstrual bleeding is the most common symptom in women who have von Willebrand disease. If untreated, it can lead to iron-deficiency anemia. Doctors may test for von Willebrand disease in women who have unusually heavy menstrual bleeding. Some people may only be diagnosed after an episode of prolonged bleeding after an accident or surgery. People with type 3 von Willebrand Disease (rare and severe) are usually diagnosed in childhood. They may have:
  • Any of the symptoms listed above.
  • Severe bleeding episodes for no reason. These bleeding episodes can be life threatening if not treated immediately.
  • Bleeding into soft tissues or joints, causing severe pain and swelling. Bleeding into the joints is called hemarthrosis.
How Is von Willebrand Disease Treated?

Most cases of von Willebrand Disease are mild and often don’t require treatment. Treatment may only be needed to prevent or treat bleeding associated with surgery, tooth extraction, or an accident. For those who need treatment, one or more of the following may be used:
  • Medicine to increase the level of von Willebrand factor in the blood
  • Medicine to prevent the breakdown of clots
  • Medicine to control heavy menstrual bleeding in women
  • Injection of clotting factor concentrates (containing von Willebrand factor and factor VIII)
Your doctor will decide what treatment you need based on the severity and the type of disease you have. Specific treatments include:
  • Desmopressin (DDAVP), a synthetic hormone usually given by injection or nasal spray. DDAVP makes the body release stored von Willebrand factor into circulation, and it also increases the level of factor VIII activity. DDAVP is effective in treating most patients with type 1 von Willebrand Disease and some patients with type 2A, 2M, or 2N von Willebrand Disease. DDAVP can usually only be used two to four times for an individual bleeding episode because the body has a limited amount of stored von Willebrand factor.
  • Replacement therapy, which is the injection of a concentrated amount of von Willebrand factor and factor VIII into the body. This treatment can be used in:
    People who can’t take DDAVP or who need prolonged treatment
    People with type 1 disease who don’t respond to DDAVP
    People with type 2A, 2B, 2M, or 2N disease
    People with type 3 disease
  • Oral contraceptives (or birth control pills), which can help women who have heavy menstrual bleeding.
  • Antifibrinolytic drugs, which help prevent the breakdown of clots that form at bleeding sites. These drugs are used mostly to stop or prevent bleeding following minor surgery, tooth extraction, or an injury. They may be used alone or together with DDAVP or replacement therapy.
  • Fibrin glue, which is medicine placed directly on a wound to stop the bleeding.
Bleeding that can’t be controlled can become life threatening. Rarely, people with severe forms of von Willebrand disease will need to seek immediate medical treatment to stop bleeding.
Credit: National Institute of Health.
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