There is a lack of knowledge on how to diagnose, treat and manage patients with von Willebrand disease.

This presentation will focus on the advances made in understanding the molecular pathogenesis of von Willebrand disease (VWD) in the past two decades. The presentation will begin with a brief update on the fundamental knowledge of von Willebrand factor structure and function. This introduction will then be followed by a consideration of the molecular genetic pathology responsible for each of the subtypes of VWD. The presentation will highlight the strengths and weaknesses of current molecular genetic knowledge for VWD as it pertains to the potential for using this information in genetic diagnosis of this disorder.  The presentation will end with a brief discussion of future lines of investigation required to further enhance our pathogenetic understanding of this multifaceted, complex genetic trait.      

The presentation will then address the diagnosis and management of von Willebrand disease (VWD). After a brief discussion of the classification of VWD the presentation will focus on the bleeding history, including the value of bleeding assessment tools and bleeding scores, the laboratory tests required for diagnosis as well as subtyping, and the potential new roles for ratios of von Willebrand factor (VWF) parameters and the VWF propeptide assay in the diagnostic work-up of VWD. In the second part of the presentation a practical approach to the treatment of VWD will be presented.