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Heredity of von Willebrand disease

How does a person get von Willebrand disease?

Von Willebrand disease is a hereditary disorder. It is caused by an abnormal gene.

Each cell of the body contains structures called chromosomes. A chromosome is a long chain of chemicals known as DNA. This DNA is arranged into about 25,000 units called genes which determine such things as the colour of a person’s eyes.

Each cell contains 46 of these chromosomes arranged in 23 pairs. Von Willebrand disease is caused by a defect on chromosome 12. The defect could be on the chromosome 12 from the mother, on the chromosome 12 from the father, or on both.

There are two ways of getting the hereditary form of VWD.

• It can be passed from a parent who has the defective gene (even if this person has no symptoms of VWD) to a child at the time of conception.

• One of the baby’s genes can undergo a change. This is called a genetic mutation. The baby’s parents do not carry this defective gene, and the parents' other children would not inherit it.

Male and female children have an equal chance of inheriting VWD.

Because it is a hereditary disorder, VWD often affects several members of the same family. One can often trace VWD through a family tree. Figure 3 shows three generations of a family with VWD.


In the first generation:
The grandfather (John) has mild Type 1 VWD and the grandmother (Mary) is unaffected by VWD.

In the second generation: There is a 50% chance that each of John and Mary’s children will be born with the VWD gene. The diagram shows one of the two daughters (Ann) and one of the two sons (Peter) inheriting the defective gene. They both have mild Type 1 VWD.

In the third and fourth generations: The daughter with VWD (Ann) marries a man who does not have VWD (Charles). Their children have the same 50 % chance of inheriting the disease. In the diagram one daughter (Julia) gets VWD.

The son with VWD (Peter) marries a woman (Isabel) who also carries the abnormal chromosome 12. Their children have a 25% chance of being unaffected (Claire), a 50% chance of inheriting the defective gene from one of the parents and thus having mild Type 1 VWD (Helen and David), and a 25% chance of inheriting the defective gene from both parents (Robert) and getting severe Type 3 VWD.

Is there always a history of bleeding in the family?

Not always. There are several reasons why.

• The level of VWF is not the same from person to person even in the same family. As a result, one person may bleed more than another.

• Blood type can play a role. People with Type O blood often have lower levels of VWF than people with Types A, B and AB. So people with Type O blood may have more problems with bleeding.

• Doctors believe there are other factors that also affect how severe symptoms are, but they are not yet well known.

• There may be no history of the disease because no one in the family has it. The baby could have gotten the abnormal gene through a new mutation. In this case, chromosome 12 changes at conception or soon after. That baby’s parents are not carriers. However, the baby, after growing up, could pass on VWD to its children.

• In very rare cases a person can develop VWD later in life. This is an acquired form of VWD. Neither of the person’s parents carries the VWD gene, nor does the person affected. In acquired VWD, the body’s immune system suddenly develops special antibodies, called inhibitors, to the VWF in the blood. In other words, the body sees the VWF as a foreign substance and then destroys it. This can happen as a result of medication a person has taken. Inhibitors can also be caused by other medical conditions, such as rheumatoid arthritis, certain types of kidney disease and certain cancers.

Do the parents of a child with Type 3 von Willebrand disease show signs of the disease?

In most cases, both parents of a child with severe Type 3 VWD do not show symptoms. Occasionally one, or rarely both, will have mild bleeding problems

Is von Willebrand disease always the result of a genetic condition?

No. As explained above, in cases of acquired VWD, there is no defective VWD gene.

Is it normal for a parent to feel guilty about passing on von Willebrand disease to his/her child?

Some parents do feel guilty after their child has been diagnosed with VWD. Such feelings are not unusual. However, VWD is a genetic condition and no one’s fault. What’s more, children with VWD can live normal, healthy lives and realize their full potential.