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Semin Thromb Hemost 2006; 32(5): 514-521
DOI: 10.1055/s-2006-947866
Copyright © 2006 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA.

Laboratory Testing for von Willebrand Disease: Contribution of Multimer Analysis to Diagnosis and Classification

Ulrich Budde1 , Antje Pieconka1 , Kirsten Will1 , Reinhard Schneppenheim2
  • 1Coagulation Laboratory, Laboratory Association Professor Arndt and Partners, Hamburg, Germany
  • 2Department of Hematology, Childrens Hospital, University Clinic, Hamburg, Germany
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Publication History

Publication Date:
24 July 2006 (online)

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ABSTRACT

The stepwise diagnosis of von Willebrand disease (vWD) includes patient and family history, screening procedures (bleeding time, filter tests, platelet counts, activated partial thromboplastin time [aPTT]), confirmatory tests (von Willebrand factor [vWF]:antigen [Ag], vWF:ristocetin cofactor activity assay [RCo], vWF:collagen-binding test [CB], ristocetin-induced platelet agglutination [RIPA], and factor [F] VIII:coagulant activity [C]) and tests for final classification (multimeric analysis, vWF:factor VIII binding, and platelet vWF). Accumulating knowledge of the different clinical phenotypes and the pathophysiological basis of the disease have been translated into a classification that differentiates between quantitative and qualitative defects by means of quantitative and functional parameters and by analyzing the electrophoretic pattern of vWF multimers, but without inclusion of the genotype. Recently, it has been shown that with a sensitive method of multimer analysis, a > 90% genotype-phenotype relation may be achieved in the near future.

KEYWORDS

von Willebrand disease (vWD) - von Willebrand factor (vWF) - classification - ratio - von Willebrand factor multimers - standardization

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Ulrich BuddeM.D. 

Coagulation Laboratory, Laboratory Association Professor Arndt and Partners

Lademannbogen 61-63, D 22339 Hamburg, Germany

Email: budde@labor-arndt-partner.de