Von Willebrand Disease Is Typically Inherited

Von Willebrand disease is a genetic disease that occurs when there is a change within the gene that makes von Willebrand factor. Von Willebrand disease can be inherited from a parent or, in rare cases, from both parents. The gene for von Willebrand disease is located on chromosome 12, and it can affect men and women.

In rare cases, von Willebrand disease can develop later in life and is not inherited from a parent. In this case, it is known as acquired von Willebrand disease. The treatment and symptoms are similar to inherited von Willebrand disease, but the cause of the disorder is very different.

LEARN MORE ABOUT THE INHERITANCE PATTERNS OF VWD

GENETIC TESTING

Though von Willebrand disease is a common condition, genetic testing is not performed for it as frequently as it is for many other bleeding disorders. Genetic testing of the von Willebrand factor gene is most useful in determining the exact subtype for those with type 2 von Willebrand disease, or to differentiate between type 2N von Willebrand disease and mild factor VIII deficiency (hemophilia A).

Genetic testing is not frequently used for those with type 1 von Willebrand disease due to several factors, including cost, technical complexity of the testing due to the nature of the von Willebrand factor gene, and lack of usefulness of the information that is currently provided by the results. As more knowledge is gained about the von Willebrand factor gene, however, this may change, and genetic testing may be used more frequently in the future.

If you have any questions about genetic testing for von Willebrand disease, please contact the genetic counselors at the IHTC.

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