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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Von Willebrand disease

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* Not a rare disease
Other Names for this Disease
  • Von Willebrand factor, deficiency
  • VWD
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Cause


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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).[1]

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.[1] A list of disorders associated with AVWS can be viewed by clicking here.[2]
Last updated: 6/4/2012

References
  1. Von Willebrand disease. Genetics Home Reference. February 2008; http://ghr.nlm.nih.gov/condition/von-willebrand-disease. Accessed 6/4/2012.
  2. Margaret E Rick. Classification and pathophysiology of von Willebrand disease. UpToDate. Waltham, MA: UpToDate, Inc; 2012;