Genetics of von Willebrand disease type 1

James P. Riddel, Bradley E. Aouizerat

Research output: Contribution to journalArticle

Abstract

The most common form of von Willebrand disease (VWD) is reported to be type 1, accounting for as much as 80% of reported cases. With prevalence estimates as high as 1.6% in the general population, upwards of 4.5 million Americans may be affected. Unfortunately, VWD type 1 is also the most difficult type to diagnose. Despite the continuing progress in defining the genetic lesions responsible for VWD types 2 and 3, identification of the genetic determinants of VWD type 1 remains elusive. Herein the phenomenon known as VWD is summarized, the challenges associated with the diagnosis of type 1 VWD are described, and the role of genetic research in meeting these challenges is explored. The authors identify key gaps in the current genetics literature and suggest new avenues for future research. Lastly, they explore the role of nurses in this research and clinical endeavor. To the authors'knowledge, this review is the first to address these complex issues in nursing research.

Original languageEnglish (US)
Pages (from-to)147-156
Number of pages10
JournalBiological Research for Nursing
Volume8
Issue number2
DOIs
StatePublished - Oct 1 2006

Keywords

  • Bleeding disorders
  • Genetic determinants
  • Genomics
  • Hemostasis
  • Von Willebrand disease type 1
  • Von Willebrand factor

ASJC Scopus subject areas

  • Research and Theory

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