Clinical, Laboratory, and Molecular Markers of Type 3 von Willebrand Disease

Luciano Baronciani, Augusto B. Federici, Jeroen C J Eikenboom

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Type 3 von Willebrand disease (VWD) is the most severe form of this bleeding disorder owing to a virtually complete deficiency of von Willebrand factor (VWF). Type 3 VWD is inherited as a recessive trait-heterozygous relatives have mild or no bleeding symptoms, while most patients with type 3 VWD show severe bleeding because they are characterized by undetectable levels of VWF antigen and reduced concentrations (<0.10 IU/dL) of factor VIII. Although rare, type 3 VWD is of major interest because of its severe clinical presentation, the need for replacement therapy, and the risk of occurrence of alloantibodies after the infusion of plasma-derived VWF concentrates. The molecular basis of type 3 VWD has been studied in detail and numerous molecular defects have been identified. This chapter will focus on the clinical, laboratory, and molecular aspects of type 3 VWD that can be useful for a correct therapeutic approach in these patients.

Original languageEnglish
Title of host publicationVon Willebrand Disease: Basic and Clinical Aspects
PublisherWiley-Blackwell
Pages148-165
Number of pages18
ISBN (Print)9781405195126
DOIs
Publication statusPublished - Mar 21 2011

Keywords

  • Alloantibodies
  • Bleeding symptoms
  • Laboratory tests
  • Molecular and prenatal diagnosis
  • Secondary long-term prophylaxis
  • Surgery
  • Type 3 von Willebrand disease
  • Von Willebrand factor
  • Von Willebrand factor concentrates

ASJC Scopus subject areas

  • Medicine(all)

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