Genetics
Inheritance is generally as an autosomal dominant trait with males and females equally affected.
Homozygous or complex heterozygous patients are rare and usually have moderate to severe clinical symptoms. The gene shows variable penetrance and expression, so the severity of the disease may be different in members of the same family.
The vWF gene is located on the short arm of chromosome 12.
Reference
- Sadler JE, Budde U, Eikenboom JC, et al. Update on the pathophysiology and classification of von Willebrand disease: a report of the subcommittee on von Willebrand factor. J Thromb Haemost. 2006 Oct;4(10):2103-14.
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