von Willebrand Disease

What is von Willebrand disease?

Von Willebrand disease is a bleeding disorder that affects the blood’s ability to clot. A person with von Willebrand disease may have increased bruising, prolonged nosebleeds, mouth bleeds, heavy periods or heavy bleeding that’s hard to stop after an injury or procedure.

In von Willebrand disease, a person either has low levels of the protein in the blood or the protein does not work well. This protein is called von Willebrand factor, and it helps the blood to clot.

Blood cells called platelets need clotting factors to help clot the blood. When a person is injured and blood vessels are damaged, clotting factors help platelets stick together to form a clot and “plug” the area. This process of blood cells sticking together to stop the bleeding is called coagulation. Von Willebrand factor helps platelets stick together to form a strong blood clot.

Also, von Willebrand factor is bound to clotting factor VIII (8), another important protein in blood that helps it to clot.

There are three main types of von Willebrand disease:

• Type 1—A person with type 1 von Willebrand disease has low levels of von Willebrand factor and may also have low levels of clotting factor VIII. This is the most common form of von Willebrand disease. About three out of four people with von Willebrand disease have type 1.
• Type 2—A person with type 2 von Willebrand disease has von Willebrand factor that does not work well. Type 2 von Willebrand disease is divided into subtypes including 2A, 2B, 2M and 2N. These subtypes may cause a wide range of bleeding. Some subtypes have mild bleeding, and some are more severe.
• Type 3—A person with type 3 von Willebrand disease often has no von Willebrand factor at all along with low levels of clotting factor VIII. Although it is rare, this is the most severe form of von Willebrand disease.

Von Willebrand disease can be hard to diagnose. People with type 1 or type 2 von Willebrand disease might not have many bleeding problems. They might not be diagnosed with the disorder unless they have heavy menses or hard-to-stop bleeding after injury or surgery.

On the other hand, type 3 von Willebrand disease can cause major bleeding problems during infancy and childhood. Babies born with this serious form of the disorder are usually diagnosed early in life.

How common is von Willebrand disease?

Von Willebrand disease is usually an inherited disorder, which means it is passed on from parent to child through a specific gene. It is the most common inherited bleeding disorder.

Von Willebrand disease affects about 0.1%  to 1% of the U.S. population, and about three out of four with the disorder have type 1. The disease affects both males and females.

Type 1 and several Type 2 subtypes can be passed on by only one parent. Types 3 and 2N von Willebrand disease occurs if a child gets the gene from both parents. Even if a person has the gene but no signs or symptoms of increased bruising or bleeding, he or she can still pass the gene on to a child.

If a person is not born with von Willebrand disease but develops it later in life, that person has acquired von Willebrand syndrome, which can occur as a result of other health problems.

What are the signs and symptoms of von Willebrand disease?

It is common for a person to have such mild symptoms that the person does not know that von Willebrand disease is the cause. The signs or symptoms depend on the type of von Willebrand disease a person has and how severe the disorder is.

• With type 1 or type 2 von Willebrand disease, a person may have signs and symptoms of mild-to-moderate bleeding:
  • Frequent bruising from minor bumps or injuries
  • Large bruises or bruises you can feel
  • Heavy bleeding after a cut or other injury
  • Heavy bleeding after surgery
  • Frequent nosebleeds that are hard to stop
  • Prolonged gum bleeding after teeth brushing or a dental procedure
  • Prolonged or heavy menstrual bleeding
  • Blood in the stools from bleeding in the stomach or intestines
  • Blood in the urine from bleeding in the bladder or kidneys
• In addition to mild-to-moderate bleeding, a person with type 3 von Willebrand disease may also have the following:
  • Unexplained episodes of severe bleeding that can be life threatening if not treated right away
  • Bleeding into joints and muscles, which can cause severe pain and swelling

In women, heavy menstrual bleeding is often the main sign of von Willebrand disease. However, a woman with heavy periods does not always have the disorder.

How is von Willebrand disease treated?

Treatment for von Willebrand disease is based on the type and how severe the bleeding is. Current therapies include the following:

• Desmopressin acetate (DDVAP)—to stimulate the release of more von Willebrand factor into the bloodstream.
  
  
  • DDVAP is a man-made hormone and an effective treatment for most people with type 1 von Willebrand disease and for some with type 2.
  • The von Willebrand factor is stored in the lining of the blood vessels and in platelets.
  • DDAVP causes the release of von Willebrand factor from its stores, increasing the amount available in the blood.
  • Treatment with DDAVP is given in certain situations, such as before a dental procedure, to help reduce or prevent bleeding. If used too often, this medicine can become less effective.
  • Some people do not have a good rise of their von Willebrand levels with DDAVP. To see if a person will have a good response from its use, your doctor may order a Stimate® or DDAVP Challenge. This will measure the amount of von Willebrand factor in the blood before and after being given the medicine.
  • DDAVP is given by injection or as a nasal spray (Stimate®).
• Von Willebrand factor replacement therapy—to replace low or missing von Willebrand levels in the blood.
  • Concentrated forms of von Willebrand factor are given by vein.
  • Because the von Willebrand factor works better when bound to factor VIII (8), von Willebrand factor products have both.
  • This treatment may be used if a person cannot tolerate DDAVP, has type 1 von Willebrand disease that does not respond to DDAVP, or has type 2 or type 3 von Willebrand disease.
  • Von Willebrand factor products include Humate-P®, Alphanate® and Wilate®.
• Antifibrinolytic medicines—to help keep blood clots together once formed.
  
  • Antifibrinolytic medicines are usually taken before and after a dental procedure, to stop bleeding from the mouth or nose or to help decrease the amount of bleeding from menses.
  • An antifibrinolytic medicine can be used alone or along with DDVAP and von Willebrand factor replacement therapy.
  • Examples of antifibrinolytic medicines are Amicar® (aminocaproic acid) and Lysteda® (tranexamic acid).
• Fibrin glue—to stop bleeding by creating a clot.
  • Clotting factors help create a strong seal over a wound with fibrin, a type of protein that acts like glue to hold blood clots together.
  • Fibrin glue (also called fibrin sealant) is a medicine applied directly to a wound to stop bleeding.

Fibrin glue may sometimes be used along with clotting factor replacement therapy, an antifibrinolytic medicine or DDAVP.  

What are the survival rates for von Willebrand disease?

Von Willebrand disease is most often a mild disorder.

Most people have type 1 von Willebrand disease, the mildest form of the disorder that usually does not cause life-threatening bleeding. With type 1, treatment may only be needed if a person has surgery, a dental procedure or a traumatic injury.

A person who has a more severe form of von Willebrand disease may need treatment more often to prevent or stop life-threatening bleeds.

With proper treatment, a person with von Willebrand disease—including type 3—can live a normal, active life.

Genetic counseling and prenatal screening may be helpful to people with a family history of von Willebrand disease who plan to have children.

Why choose St. Jude for your child’s von Willebrand disease treatment?

• St. Jude is a federally approved Hemophilia Treatment Center specialized in comprehensive care for patients with von Willebrand disease and other bleeding disorders.
• Doctors and nurses at St. Jude are specially trained to take care of patients with von Willebrand disease.
• St. Jude doctors and nurses work closely with many other services in the hospital to support the patients on multiple levels, such as with social work, child life or physical therapy services.
• St. Jude provides top quality clinical care and is at the forefront of bleeding disorders research.