Laboratory aspects of von Willebrand disease: test repertoire and options for activity assays and genetic analysis

Laboratory aspects of von Willebrand disease: test repertoire and options for activity assays and genetic analysis - Castaman - 2014 - Haemophilia - Wiley Online Library Skip to Main Content Log in / Register Log In E-Mail Address Password Forgotten Password?

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You have free access to this contentLaboratory aspects of von Willebrand disease: test repertoire and options for activity assays and genetic analysisG. Castaman1, A. Hillarp2,* andA. Goodeve3Article first published online: 25 APR 2014

DOI: 10.1111/hae.12410

© 2014 John Wiley & Sons Ltd

Issue

HaemophiliaSpecial Issue: State of the Art: WFH 2014 World Congress

Volume 20, Issue Supplement s4, pages 65–70, May 2014

Additional Information

How to CiteCastaman, G., Hillarp, A. and Goodeve, A. (2014), Laboratory aspects of von Willebrand disease: test repertoire and options for activity assays and genetic analysis. Haemophilia, 20: 65–70. doi: 10.1111/hae.12410

Author Information1

Department of Cell Therapy and Hematology, Hemophilia and Thrombosis Center, San Bartolo Hospital, Vicenza, Italy

2

Department of Clinical Chemistry, Malmo Centre for Thrombosis and Haemostasis, Skane University Hospital, Malmo, Sweden

3

Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust & Haemostasis Research Group, Department of Cardiovascular Science, University of Sheffield, Sheffield, UK

* Correspondence: Andreas Hillarp, The Coagulation Laboratory, Department of Clinical Chemistry, Skane University Hospital, Jan Waldenströms gata 14, SE-20502 Malmo, Sweden.
Tel.: +46 734 226611; fax: +46 40 336255;
e-mail: andreas.hillarp@med.lu.se

Publication HistoryIssue published online: 25 APR 2014Article first published online: 25 APR 2014Manuscript Accepted: 24 FEB 2014 SEARCH Search Scope All contentPublication titlesIn this journalIn this issue Search String Advanced >Saved Searches > SEARCH BY CITATION Volume: Issue: Page: ARTICLE TOOLSGet PDF (105K)Save to My ProfileE-mail Link to this ArticleExport Citation for this ArticleGet Citation AlertsRequest Permissions AbstractArticleReferencesCited By View Full Article (HTML) Enhanced Article (HTML) Get PDF (105K) Keywords:genetic testing;laboratory diagnosis;ristocetin cofactor;von Willebrand disease;von Willebrand factor activitySummary

The deficiency or abnormal function of von Willebrand factor (VWF) causes von Willebrand disease (VWD), the most frequent inherited bleeding disorder. The laboratory diagnosis of VWD can be difficult as the disease is heterogeneous and an array of assays is required to describe the phenotype. Basic classification of quantitative (type 1 and 3) and qualitative (type 2) VWD variants requires determination of VWF antigenic (VWF:Ag) levels and assaying of VWF ristocetin cofactor (VWF:RCo) activity, determining the capacity of VWF to interact with the platelet GPIb-receptor. Knowing the VWF:RCo activity is essential for identifying, subtyping and monitoring VWD, but the assay is poorly standardized and many protocols do not fulfil the clinical need in all situations. This has led to the development of novel activity assays, independent of ristocetin, with enhanced assay characteristics. Results from the first independent clinical evaluations are promising, showing that they are reliable and suitable for VWD diagnosis. The qualitative type 2 VWF deficiency can be further divided into four different subtypes (A, B, M and N) using specific assays that explore other activities or the size distribution of VWF multimers. These methods are discussed herein. However, in a number of patients it may be difficult to correctly classify the VWD phenotype and genetic analysis may provide the best option to clarify the disorder, through mutation identification.

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