What causes pediatric von Willebrand disease (VWD)?

Updated: Feb 05, 2019
  • Author: Suchitra S Acharya, MD, MBBS; Chief Editor: Hassan M Yaish, MD  more...
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Answer

von Willebrand disease is caused by an inherited defect that results in a deficiency or dysfunction of von Willebrand factor. The gene for von Willebrand factor is on the short arm of chromosome 12. It spans approximately 180 kilobases (kb) and is composed of 52 exons. Exons range in size from 40 base pairs (bp) to 1.4 kb. Various point mutations, insertions, and deletions at the von Willebrand factor locus have been described.

In some cases, von Willebrand disease is believed to result from other pathologic processes; however, because of the relatively high prevalence of von Willebrand disease, its concomitant occurrence with other disease states may be coincidental.


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