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

  1. Augusto B. Federici MD3,
  2. Christine A. Lee MA, MD, DSc (Med), FRCP, FRCPath, FRCOGad eundem4,
  3. Erik E. Berntorp MD, PhD5,
  4. David Lillicrap MD6 and
  5. Robert R. Montgomery MD7,8
  1. Luciano Baronciani PhD1,
  2. Augusto B. Federici MD3 and
  3. Jeroen C. J. Eikenboom MD, PhD2

Published Online: 21 MAR 2011

DOI: 10.1002/9781444329926.ch13

Von Willebrand Disease: Basic and Clinical Aspects

Von Willebrand Disease: Basic and Clinical Aspects

How to Cite

Baronciani, L., Federici, A. B. and Eikenboom, J. C. J. (2011) Clinical, Laboratory, and Molecular Markers of Type 3 von Willebrand Disease, in Von Willebrand Disease: Basic and Clinical Aspects (eds A. B. Federici, C. A. Lee, E. E. Berntorp, D. Lillicrap and R. R. Montgomery), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444329926.ch13

Editor Information

  1. 3

    Division of Hematology and Transfusion Medicine, L. Sacco University Hospital, Department of Internal Medicine, University of Milan, Milan, Italy

  2. 4

    University of London, London, UK

  3. 5

    Malmö Centre for Thrombosis and Haemostasis, Lund University, Skåne University Hospital, Malmö, Sweden

  4. 6

    Department of Pathology and Molecular Medicine, Richardson Laboratory, Queen's University, Kingston, ON, Canada

  5. 7

    Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA

  6. 8

    Blood Research Institute, Blood Center of Wisconsin, Milwaukee, WI, USA

Author Information

  1. 1

    Angelo Bianchi Bonomi Haemophilia and Thrombosis Centre, Department of Medicine and Medical Specialities, IRCCS Maggiore Policlinico Hospital, Mangiagalli and Regina Elena Foundation and University of Milan, Milan, Italy

  2. 2

    Department of Thrombosis and Hemostasis, Leiden University Medical Center, Leiden, the Netherlands

  3. 3

    Division of Hematology and Transfusion Medicine, L. Sacco University Hospital, Department of Internal Medicine, University of Milan, Milan, Italy

Publication History

  1. Published Online: 21 MAR 2011
  2. Published Print: 25 MAR 2011

ISBN Information

Print ISBN: 9781405195126

Online ISBN: 9781444329926

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Keywords:

  • type 3 von Willebrand disease;
  • von Willebrand factor;
  • bleeding symptoms;
  • laboratory tests;
  • molecular and prenatal diagnosis;
  • alloantibodies;
  • von Willebrand factor concentrates;
  • surgery;
  • secondary long-term prophylaxis

Summary

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.