9. Laboratory Diagnosis of von Willebrand Disease: The Phenotype

  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. Ulrich Budde MD1 and
  2. Emmanuel J. Favaloro PhD2

Published Online: 21 MAR 2011

DOI: 10.1002/9781444329926.ch9

Von Willebrand Disease: Basic and Clinical Aspects

Von Willebrand Disease: Basic and Clinical Aspects

How to Cite

Budde, U. and Favaloro, E. J. (2011) Laboratory Diagnosis of von Willebrand Disease: The Phenotype, 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.ch9

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 Hemostaseology, Medilys Laborgesellschaft mbH, c/o Asklepios Klinik Altona, Hamburg, Germany

  2. 2

    Department of Haematology, Institute of Clinical Pathology and Medical Research (ICPMR), Westmead Hospital, Westmead, NSW, Australia

Publication History

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

ISBN Information

Print ISBN: 9781405195126

Online ISBN: 9781444329926



  • von Willebrand disease;
  • diagnosis;
  • laboratory tests;
  • qualitative abnormalities


von Willebrand disease (VWD) is one of the most common congenital bleeding disorders. Although laboratory values below the reference range will be detected in about 1% of the population, the prevalence of true VWD is much lower. Therefore, clinical observation is necessary for differentiation between a purely laboratory phenomenon versus a clinically relevant disease. For the diagnosis and classification of VWD, a battery of tests is necessary. These are usually classified as screening diagnostic tests, extended diagnostic tests, and special diagnostic tests. Screening diagnostic tests have low sensitivity and specificity but are valuable tools for ruling out VWD and may help diagnose another defect of primary hemostasis. The extended diagnostic tests can usually confirm the diagnosis of VWD, while the special diagnostic tests are valuable tools in classifying the disease. In some cases the diagnosis cannot be proven without performing a subset of the special diagnostic tests. Thus, usually a battery of tests has to be performed until a patient with a defect of primary hemostasis can be diagnosed with acceptable certainty.