12. Clinical, Laboratory, and Molecular Markers of Type 2 von Willebrand Disease

  1. Augusto B. Federici MD5,
  2. Christine A. Lee MA, MD, DSc (Med), FRCP, FRCPath, FRCOGad eundem6,
  3. Erik E. Berntorp MD, PhD7,
  4. David Lillicrap MD8 and
  5. Robert R. Montgomery MD9,10
  1. Dominique Meyer MD1,2,
  2. Edith Fressinaud MD, PhD3 and
  3. Claudine Mazurier PhD4

Published Online: 21 MAR 2011

DOI: 10.1002/9781444329926.ch12

Von Willebrand Disease: Basic and Clinical Aspects

Von Willebrand Disease: Basic and Clinical Aspects

How to Cite

Meyer, D., Fressinaud, E. and Mazurier, C. (2011) Clinical, Laboratory, and Molecular Markers of Type 2 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.ch12

Editor Information

  1. 5

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

  2. 6

    University of London, London, UK

  3. 7

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

  4. 8

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

  5. 9

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

  6. 10

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

Author Information

  1. 1

    Centre National de Référence de la Maladie de, Willebrand, France

  2. 2

    Inserm U770, Université Paris-sud, Le Kremlin-Bicêtre, Paris, France

  3. 3

    Centre National de Référence de la Maladie de, Willebrand Service d'Hématologie Biologique, Hôpital Antoine Béclère, Clamart, France

  4. 4

    Laboratoire Français du Fractionnement et des Biotechnologies, Lille, France

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;
  • von Willebrand disease subtypes;
  • VWF gene mutations;
  • type 2 von Willebrand disease

Summary

Type 2 von Willebrand disease (VWD) is characterized by a functional and/or structural defect of von Willebrand factor (VWF). Bleeding symptoms are thought to be more severe in type 2 than in type 1 and less severe than in type 3, but further evaluation is required. Type 2 VWD is divided into four subgroups. Type 2A refers to variants with decreased platelet-dependent function owing to a lack of high-molecular-weight multimers of VWF, while type 2M includes variants with decreased platelet-dependent function despite a relatively normal sized distribution of VWF multimers. Type 2B is a result of an increased affinity of VWF for platelet glycoprotein Ib. Type 2N characterizes variants with a decreased affinity of VWF for factor VIII. The subtyping of type 2 VWD remains a major challenge because of the heterogeneity of the functional and structural defects of VWF, as well as the expertise required for performing multimer analysis and functional tests. Moreover, the identification of VWD variants is now based on the knowledge of the pathologic mechanisms of VWF gene mutations and of their impact on VWF structure and function.