Von Willebrand disease

Von Willebrand disease is a bleeding disorder, affecting about 1 in 100 people. Most of us have factors in our blood which help to form blood clots, which in turn help stop bleeding. One of these is von Willebrand factor. People with von Willebrand disease have limited or no von Willebrand factor in their blood.

Von Willebrand disease is passed on through an abnormal gene which can be inherited from the mother or father (or both, in some cases).

Von Willebrand disease is similar to haemophilia, but people with it usually suffer more from ongoing external bleeding, rather than internal bleeds. Unlike haemophilia, von Willebrand disease is not gender-specific, and it affects males and females equally.

How serious is von Willebrand disease?

People with von Willebrand disease (vWD) may have reduced levels of the factor (mild, or vWD type I and type II), or they may have none at all (severe, or vWD type III).

  • Mild vWD (type 1 and 2) is the most common form of the disorder, and many people with vWD will lead normal active lives, with no need for treatment.
  • Severe vWD (type 3) is more troublesome and people with this can suffer from internal bleeding episodes more commonly seen in people with haemophilia.

Who is affected by von Willebrand disease?

As von Willebrand disease is hereditary (passed on from parent to child), there is usually a family history of bleeding problems. The symptoms of von Willebrand disease can vary a lot within a family so there are times when this is not clear.

  • VWD Types 1 and 2 are usually inherited in what is known as a "dominant" pattern. This means that a parent who has vWD has a one in two (50%) chance of passing a vWD gene on to each of his or her children.
  • Type 3 vWD, 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 symptoms or no symptoms at all, their children may be severely affected.

Like most genetic disorders, there are rare occasions when von Willebrand disease can occur even when there is no family history of the disorder due to a spontaneous change in the von Willebrand gene before a baby is born.

Symptoms of von Willebrand disease

The first indications of von Willebrand disease may be noticed after a minor surgical procedure (such as a tooth extraction), where prolonged bleeding might be observed. Other symptoms may include frequent nosebleeds, heavy menstruation and bleeding after invasive surgery.

People with Type 3 vWD (the more severe form) can have bleeding into muscles and joints, sometimes without obvious injury. This is known as internal bleeding and is more similar to haemophilia. 

Diagnosis of von Willebrand disease

If von Willebrand disease is suspected, a specialist (haematologist) can do tests to determine how long you bleed before your blood clots. Your doctor will also take into consideration your personal and family medical history.

Diagnosis can sometimes take some time because some people with von Willebrand disease have levels of clotting factors in their blood that are nearly normal. Furthermore, stress can encourage a falsely negative result as it has been known to raise levels of von Willebrand factor in the blood. 

Treatment of von Willebrand disease

For those who need treatment there are several options, depending on individual circumstances and the severity of the disorder.

Mild bleeds can be managed with the P.R.I.C.E approach (protect, rest, ice, compression and elevation).

Other treatments include: 

  • Tranexamic acid
    • often used to treat small but persistent bleeds (such as nosebleeds)
    • this drug is taken orally and works by slowing down the breakdown of clots.
  • Hormone treatment
    • such as oral contraceptives (birth control pills)
    • helps increase vWF and Factor VIII levels and control menstrual bleeding
    • if hormone treatment is not prescribed, antifibrinolytic agents may be effective for treating heavy menstruation.
  • Desmopressin
    • used to treat smaller bleeds and during minor surgical procedures
    • it is injected into the vein and increases the level of vWF in the blood. 
  • Concentrated von Willebrand factor
    • used to treat severe forms of the disorder
    • it is injected and replaces the missing factor in the blood so that clotting takes place at a normal rate.

How to recognise a bleed?

Symptoms to watch out for include feeling pain, heat, tingling or bubbling sensations together with swelling and stiffness.

For young children, be on alert for any joints that appear swollen or warmer than the other one or difficulty using or straightening a joint. You may notice your child limping or avoiding putting the heel to the floor when walking or standing.

Talk with your doctor or specialist nurse about what how to recognise a bleed and what you need to do. 

Support

Haemophilia Foundation NZ – offer support, newsletters, camps, kids activities, education and advice. View centres for contact details. 

Learn more

What Is Von Willebrand Disease? National Heart Lung and Blood Institute, USA
Haemophilia Foundation NZ 
Kids & teens section on Willebrand disease Kids Health (includes useful picture) 
Diagnosis & evaluation von Willebrand disease National Heart Lung and Blood Institute, USA

Credits: Adapted from material provided by the Haemophilia Foundation. Latest update by Health Navigator May 2015.