Von-Willebrand Disease

Von Willebrand disease (VWD) 

Von Willebrand disease (VWD) is an inherited bleeding disorder caused by a defect or deficiency of a blood-clotting protein known as the von Willebrand factor. The von Willebrand factor is essential for the early stages of clotting and acts like glue to help the platelets stick together and form a blood clot. The von Willebrand factor (VWF) is one of a dozen proteins in the body that contribute to blood coagulation (clot formation).

  • Von Willebrand disease is often compared to hemophilia, but is a different condition and has a different pattern of bleeding.
  • Von Willebrand disease is the most common inherited bleeding disorder in the United States, and affects as many as 1 in every 1000 individuals.
  • Males and females have an equal chance of inheriting VWD; however, due to the bleeding challenge of monthly menses (periods), VWD is more frequently diagnosed in females.
  • A parent with VWD has a 50 percent chance of passing the gene to his or her child.

Von Willebrand disease is a lifelong condition that currently does not have a cure but can be successfully managed.

Von Willebrand Disease Treatment

There are three types of Von Willebrand disease – Type 1, 2, and 3. Type 1 is the most common.

Type 1 VWD: Levels of the von Willebrand factor (VWF) are lower than normal (<30%)

Type 2 VWD: VWF is present but does not function normally. There are several subtypes of type 2 VWD, called 2A, 2B, 2M, and 2N. These subtypes are defined by the specific function of VWF that is not working properly, for example VWF’s ability to interact with platelets or with factor VIII (8).

Von Willebrand disease (VWD) : VWF is absent or very low. This is the rarest and most severe type. In these patients, bleeding symptoms are similar to those of hemophilia.

What are Von Willebrand disease symptoms and causes?

Von Willebrand disease symptoms

Von Willebrand disease symptoms can vary a great deal depending on the type and severity of the disease. Many children with mild cases of von Willebrand disease have no symptoms. Others can experience symptoms such as:

  • Frequent large bruises from minor bumps or injuries
  • Frequent or prolonged nosebleeds
  • Heavy or prolonged menstrual bleeding in girls
  • Unusually prolonged or heavy bleeding from the gums during teeth cleaning or other dental procedures
  • Unusually heavy bleeding after surgery
  • Excessive bleeding from minor cuts

It is important to understand that some symptoms of VWD may resemble those of other more common medical problems. Because some of these symptoms can also point to other conditions, it’s important to have your child evaluated by a qualified medical professional for an accurate diagnosis and prompt treatment.

Von Willebrand disease causes

VWD is an inherited disorder. The gene responsible for the low levels of von Willebrand factor is inherited, or passed down, from a parent. A parent with the gene for VWD has a 50 percent chance of passing the gene on to his or her children.

How is von Willebrand disease diagnosed?

If your child is suspected of having VWD, he or she will be referred to a hematologist, a doctor with specialized training in treating blood disorders. Blood tests will be completed to measure the levels and function of VWF in the blood, including:

  • von Willebrand factor antigen
  • von Willebrand Ristocetin cofactor activity
  • factor VIII activity
  • von Willebrand multimers

Other diagnostic tests may be necessary depending on your child’s individual situation. Once all necessary tests have resulted, our experts meet with you to review what they have learned about your child’s results and to outline the best possible treatment options.

What are the treatments for von Willebrand disease?

The approach to treatment depends on the VWD type and severity and the individual’s bleeding symptoms. Often treatment is only needed prior to a procedure (such as surgery or tooth extraction) or for infrequent bleeding symptoms. In some cases, bleeding symptoms are more severe and more frequent treatment is necessary. The most commonly used treatments include:

  • Desmopressin (DDAVP), a synthetic hormone given by an injection into a vein or through a nasal spray called Stimate®. DDAVP causes an increased release of VWF from blood vessel cells. It is usually effective for most patients with type 1 and some with type 2 VWD. Your physician will usually perform a DDAVP challenge on your child to evaluate the response to DDAVP prior to using it for treatment.
  • Von Willebrand factor replacement therapies. Special concentrate of VWF (as well as factor VIII) are available for treatment of VWD. The VWF concentrates are administered by infusion (injections into a vein) and allow us to replace the missing or low clotting factor. This treatment is used if your child does not respond to DDAVP, needs therapy for an extended time, or has a severe injury.
  • Antifibrinolytic agents. Oral medicines such as aminocaproic acid and tranexamic acid can be used to help make clots more stable. These medications may be particularly helpful for managing bloody noses (epistaxis), heavy menstrual bleeding, and after dental procedures for patients with bleeding disorders. They may be used alone or together with DDAVP or VWD replacement therapy.

Your child is an individual, and your von Willebrand disease treatment team will take many factors into account to ensure the best treatment and follow-up plan for your child including:

  • Your child’s age, overall health and medical history
  • The severity of the disease
  • Your child’s tolerance for certain medications, procedures or therapies
  • How your child’s doctors expect the disease to progress
  • Your opinion and preferences

What is the latest research on von Willebrand disease?

What is the long-term outlook for von Willebrand disease?Von Willebrand disease is a lifelong condition with no cure. The long-term outlook for children with VWD is generally good and most have a normal lifespan. Throughout their lifetime, many patients require periodic treatment for bleeding symptoms or treatment before surgery or dental procedures. We generally recommend avoiding aspirin and ibuprofen (NSAIDS), as well as products containing them, since they may increase bleeding symptoms in patients with bleeding disorders.

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