The molecular characterization of von Willebrand disease: good in parts

Authors

  • P.D. James,

    1. Department of Medicine, Etherington Hall, Queen's University, Kingston, ON, Canada
    2. Department of Pathology and Molecular Medicine, Richardson Laboratory, Queen's University, Kingston, ON, Canada
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  • D. Lillicrap

    Corresponding author
    • Department of Pathology and Molecular Medicine, Richardson Laboratory, Queen's University, Kingston, ON, Canada
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Correspondence: David Lillicrap, Department of Pathology and Molecular Medicine, Richardson Laboratory, Queen's University, Kingston, ON K7L 3N6, Canada.

E-mail: lillicrap@cliff.path.queensu.ca

Summary

Since the cloning of the gene that encodes von Willebrand factor (VWF), 27 years ago, significant progress has been made in our understanding of the molecular basis of the most common inherited bleeding disorder, von Willebrand disease (VWD). The molecular pathology of this condition represents a range of genetic mechanisms, some of which are now very well characterized, and others that are still under investigation. In general, our knowledge of the molecular basis of type 2 and 3 VWD is now well advanced, and in some instances this information is being used to enhance clinical management. In contrast, our understanding of the molecular pathogenesis of the most common form of VWD, type 1 disease, is still at an early stage, with preliminary evidence that this phenotype involves a complex interplay between environmental factors and the influence of genetic variability both within and outside of the VWF locus.

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