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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Von Willebrand disease

*

* Not a rare disease

Other Names for this Disease

  • Von Willebrand factor, deficiency
  • VWD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

I have two patients, a husband and wife, whose son has Von Willebrand disease. Neither of the parents had any positive blood tests for the disease. How did the child develop the disease, and if it was inherited from the parents why are they negative in all lab tests? Also, can pregnancy trigger such an issue? The mother had miscarriages prior to having their son.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Is von Willebrand disease always inherited from a parent?

Most, but not all, cases of von Willebrand disease (VWD) are inherited. The majority of cases of type 1 and type 2A, as well as type 2B and type 2M, are inherited in an autosomal dominant manner. VWD type 2N, type 3, and some cases of type 1 and type 2A are inherited in an autosomal recessive manner.[1]

Most individuals with an autosomal dominant type of VWD have an affected parent. However, some individuals are affected due to having a new (de novo) mutation in the VWF gene that occurred for the first time in the affected individual. If the mutation found in the affected individual cannot be detected in either parent, it is most often due to a de novo mutation but may also be due to germline mosaicism in a parent. Possible non-medical explanations which may be explored include alternate paternity or maternity (e.g., with assisted reproduction) or undisclosed adoption.[1]

There is also a separate, rare condition called acquired von Willebrand syndrome (AVWS). This is a mild to moderate bleeding disorder that is typically seen in conjunction with other disorders, such as diseases that affect bone marrow or immune cell function. AVWS is not caused by a mutation in the VWF gene and usually begins in adulthood.[1][2]
Last updated: 6/4/2012

What causes von Willebrand disease?

Von Willebrand disease is typically an inherited condition caused by mutations in the VWF gene. The VWF gene provides instructions for making a blood clotting protein called von Willebrand factor, which is important for forming blood clots and preventing further blood loss after an injury. If von Willebrand factor does not function normally or too little of the protein is available, blood clots cannot form properly. VWF gene mutations that reduce the amount of von Willebrand factor or cause the protein to function abnormally (or not at all) are responsible for the signs and symptoms associated with the condition. These mutations may be inherited in an autosomal dominant or autosomal recessive manner, or may occur for the first time in the affected individual (known as a de novo mutation).[2]

Another form of the disorder, often considered a separate condition, is called acquired von Willebrand syndrome (AVWS). AVWS is not caused by gene mutations. This condition is typically seen in conjunction with other disorders and usually begins in adulthood.[2] A list of disorders associated with AVWS can be viewed by clicking here.[3]
Last updated: 6/4/2012

References
Other Names for this Disease
  • Von Willebrand factor, deficiency
  • VWD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.