34. Diagnosis of von Willebrand Disease

  1. Kandice Kottke-Marchant MD, PhD2,3,4 and
  2. Bruce H. Davis MD5
  1. Emmanuel J. Favaloro PhD, FFSc (RCPA) and
  2. Jerry Koutts MD (Syd), BS, FRACP, FRCPA

Published Online: 8 AUG 2012

DOI: 10.1002/9781444398595.ch34

Laboratory Hematology Practice

Laboratory Hematology Practice

How to Cite

Favaloro, E. J. and Koutts, J. (2012) Diagnosis of von Willebrand Disease, in Laboratory Hematology Practice (eds K. Kottke-Marchant and B. H. Davis), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444398595.ch34

Editor Information

  1. 2

    Pathology & Laboratory Medicine Institute, Cleveland, OH, USA

  2. 3

    Department of Pathology, Cleveland Clinic Lerner College of Medicine, Cleveland, OH, USA

  3. 4

    Hemostasis and Thrombosis, Department of Clinical Pathology, Cleveland Clinic, Cleveland, OH, USA

  4. 5

    Trillium Diagnostics, LLC, Bangor, ME, USA

Author Information

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

Publication History

  1. Published Online: 8 AUG 2012
  2. Published Print: 10 APR 2012

ISBN Information

Print ISBN: 9781405162180

Online ISBN: 9781444398595

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Keywords:

  • von Willebrand disease;
  • VWD;
  • diagnosis;
  • desmopressin;
  • laboratory testing

Summary

von Willebrand disease (VWD), which is the most common inherited bleeding disorder, arises from deficiencies and/or defects in the plasma protein von Willebrand factor (VWF). VWD is classified into six types, with type 1 identifying a (partial) quantitative deficiency of VWF, type 3 defining a (virtual) total deficiency of VWF, and type 2 identifying four types (2A, 2B, 2M, and 2N) that are characterized by qualitative defects. The classification of VWD is based on phenotypic testing that includes factor VIII, VWF level, and VWF activity determined by ristocetin cofactor and/or collagen binding. Phenotypic testing may be supplemented by multimer analysis, ristocetin-induced platelet agglutination, and VWF:factor VIII binding. Although not required to diagnose VWD or for its classification, genetic analysis may be useful in discrete situations. The current review briefly covers this diagnostic process, with a focus on the newer approaches that include extended test panels and data from desmopressin challenges as a diagnostic tool.