Diagnosis of inherited von Willebrand disease: comparison of two methodologies and analysis of the discrepancies

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Diagnosis of inherited von Willebrand disease: comparison of two methodologies and analysis of the discrepanciesJ. Costa-Pinto, A. Pérez-Rodríguez, M. del C. Goméz-del-Castillo, E. Lourés, Á. Rodríguez-Trillo, J. Batlle* andM. F. López-FernándezArticle first published online: 21 FEB 2014

DOI: 10.1111/hae.12380

© 2014 John Wiley & Sons Ltd

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HaemophiliaEarly View (Online Version of Record published before inclusion in an issue)

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How to CiteCosta-Pinto, J., Pérez-Rodríguez, A., Goméz-del-Castillo, M. d. C., Lourés, E., Rodríguez-Trillo, Á., Batlle, J. and López-Fernández, M. F. (2014), Diagnosis of inherited von Willebrand disease: comparison of two methodologies and analysis of the discrepancies. Haemophilia. doi: 10.1111/hae.12380

Author Information

Servicio de Hematología y Hemoterapia, Xerencia Xestión Integrada de A Coruña, Department of Medicine School of Medicine, University of Santiago de Compostela, A Coruña, Spain

* Correspondence: Francisco Javier Batlle Fonrodona, MD, Servicio de Hematología y Hemoterapia, Xerencia Xestión Integrada de A Coruña, (Hospital Materno Infantil), Carretera del Pasaje s/n. 15006, A Coruña, Spain.
Tel. :+34 981 178000; fax +34 981 178392;
e-mail: francisco.Javier.Batlle.Fonrodona@sergas.es

Publication HistoryArticle first published online: 21 FEB 2014Manuscript Accepted: 10 DEC 2013 SEARCH Search Scope All contentPublication titlesIn this journalIn this issue Search String Advanced >Saved Searches > SEARCH BY CITATION Volume: Issue: Page: ARTICLE TOOLSGet PDF (653K)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 (653K) Keywords:diagnosis management;gene mutations;multimeric analysis;ristocetin cofactor;von Willebrand disease;von Willebrand factorAbstract

Diagnostics of von Willebrand disease (VWD) includes assessment of factor VIII (FVIII) coagulant activity, von Willebrand factor (VWF) antigen (VWF:Ag) and VWF ristocetin cofactor activity (VWF:RCo), and more specific tests as multimeric and genetic analyses are necessary for the correct VWD classification. The ACL AcuStar™ analyzer introduces chemiluminescence (CL) technology in detection of VWD with automated VWF:Ag and VWF:RCo assays. Compare VWF:Ag-ELISA and VWF:RCo by aggregometry conventional assays with new CL VWF:Ag-IL and VWF:RCo-IL assays, investigate the ability to make accurate VWD diagnosis and concordance with multimeric and genetic analyses. 146 patients with congenital VWD (51 Type 1; 34 Type2A; 16 Type 2B; 31 Type 2M; 5 Type 2N; 9 Type 3) and 30 healthy normal subjects were included. A comparison was made between CL and conventional methods. Diagnostic evaluation included: VWF:RCo/VWF:Ag ratio, multimeric distribution (sodium dodecyl sulfate [SDS]-agarose gel) of VWF and genetic analysis in 110 of 146 patients. CL and conventional methods revealed good correlation. Kappa test agreement diagnosis was >0.8. CL diagnostic sensitivity was 100% and specificity 97%. Multimeric and genetic analysis were of help in clarifying 13 discrepancies of diagnosis between methods, of which six discrepancies were explained by lack of conventional methods' sensibility. CL methodology can detect VWD and discriminate between type 1, 3 and variant forms and offers an automated, faster, sensitive and less cumbersome method when compared to conventional assays, in particular VWF:RCo by aggregometry. In some cases, even with all phenotype and genetic analyses, discrepancies exist in the classification of VWD.

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