11. Clinical, Laboratory, and Molecular Markers of Type 1 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. David Lillicrap MD6,
  2. Francesco Rodeghiero MD1 and
  3. Ian Peake BSc, PhD2

Published Online: 21 MAR 2011

DOI: 10.1002/9781444329926.ch11

Von Willebrand Disease: Basic and Clinical Aspects

Von Willebrand Disease: Basic and Clinical Aspects

How to Cite

Lillicrap, D., Rodeghiero, F. and Peake, I. (2011) Clinical, Laboratory, and Molecular Markers of Type 1 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.ch11

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

    Department of Cell Therapy and Hematology, San Bortolo Hospital, Vicenza, Italy

  2. 2

    Sir Edward Mellanby Professor of Molecular Medicine, Department of Cardiovascular Science, University of Sheffield Medical School, Sheffield, UK

  3. 6

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

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:

  • von Willebrand disease;
  • molecular;
  • laboratory;
  • genetics

Summary

Type 1 von Willebrand disease (VWD) is the most common form of this highly prevalent inherited bleeding disease. The condition represents a partial quantitative deficiency of von Willebrand factor (VWF), in which the protein has normal function and shows only subtle structural abnormalities. The clinical manifestations of type 1 VWD are extremely variable. At one extreme, women with a moderately severe VWF deficiency state (plasma VWF levels < 0.25 IU/dL) may experience significant menorrhagia, while in contrast, men with a mild deficiency state may remain asymptomatic throughout life. The key element to the laboratory diagnosis of type 1 VWD is the demonstration of reduced plasma levels of VWF. The VWF antigen and ristocetin cofactor levels (as a measure of VWF function) will usually be reduced proportionately between 0.05 and 0.50 IU/dL, and the factor VIII (FVIII) coagulant level will also often be low. Preliminary genetic analysis of type 1 VWD indicates that the disease is the consequence of many different mutations both within the VWF gene and at other genetic loci.