RT Journal Article
T1 Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project.
A1 Perez-Rodriguez, Almudena
A1 Batlle, Javier
A1 Corrales, Irene
A1 Borras, Nina
A1 Rodriguez-Trillo, Angela
A1 Loures, Esther
A1 Cid, Ana Rosa
A1 Bonanad, Santiago
A1 Cabrera, Noelia
A1 Moret, Andres
A1 Parra, Rafael
A1 Mingot-Castellano, Maria Eva
A1 Navarro, Nira
A1 Altisent, Carmen
A1 Perez-Montes, Rocio
A1 Marcellini, Shally
A1 Moreto, Ana
A1 Herrero, Sonia
A1 Soto, Inmaculada
A1 Fernandez Mosteirin, Nuria
A1 Jimenez-Yuste, Victor
A1 Alonso, Nieves
A1 de-Andres-Jacob, Aurora
A1 Fontanes, Emilia
A1 Campos, Rosa
A1 Paloma, Maria Jose
A1 Bermejo, Nuria
A1 Berrueco, Ruben
A1 Mateo, Jose
A1 Arribalzaga, Karmele
A1 Marco, Pascual
A1 Palomo, Angeles
A1 Castro-Quismondo, Nerea
A1 Iñigo, Belen
A1 Nieto, Maria Del Mar
A1 Vidal, Rosa
A1 Martinez, Maria Paz
A1 Aguinaco, Reyes
A1 Tenorio, Maria
A1 Ferreiro, Maria
A1 Garcia-Frade, Javier
A1 Rodriguez-Huerta, Ana Maria
A1 Cuesta, Jorge
A1 Rodriguez-Gonzalez, Ramon
A1 Garcia-Candel, Faustino
A1 Dobon, Manuela
A1 Aguilar, Carlos
A1 Batlle, Fernando
A1 Vidal, Francisco
A1 Lopez-Fernandez, Maria Fernanda
K1 Área de Gestión Sanitaria de Jerez, Costa Noroeste y Sierra de Cádiz
K1 Phenotype
K1 Spain
K1 Young Adult
K1 von Willebrand Diseases
K1 von Willebrand Factor
AB The multimeric analysis (MA) of plasma von Willebrand factor (VWF) evaluates structural integrity and helps in the diagnosis of von Willebrand disease (VWD). This assay is a matter of controversy, being considered by some investigators cumbersome and only slightly informative. The centralised study 'Molecular and Clinical Profile of von Willebrand Disease in Spain (PCM-EVW-ES)' has been carried out by including the phenotypic assessment and the genetic analysis by next generation sequencing (NGS) of the VWF gene (VWF). The aim of the present study was to evaluate the role of MA to the diagnosis of these patients and their potential discrepancies. Two hundred and seventy out of 480 patients centrally diagnosed with VWD had normal multimers, 168 had abnormal multimers and 42 a total absence of multimers. VWF MA was of great significance in the diagnosis of 83 patients (17.3%), it was also of help in the diagnosis achieved in 365 additional patients (76%) and was not informative in 32 cases (6.7%). With regard to discrepancies, 110 out of 480 (23%) patients centrally diagnosed with VWD presented some kind of discordance between VWF:RCo/VWF:Ag and/or VWF:CB/VWF:Ag ratios, multimeric study and/or genetic results. The VWF MA was key in the presence of novel mutations as well as in cases with phenotypic discrepancies. A comparison between the contribution of MA and VWF:CB showed a clearly higher contribution of the former in the diagnostic process. These data seem to reinforce the relevance of the VWF MA in VWD diagnosis, despite all its limitations.
PB Public Library Of Science
YR 2018
FD 2018-06-20
LK http://hdl.handle.net/10668/12625
UL http://hdl.handle.net/10668/12625
LA en
NO Pérez-Rodríguez A, Batlle J, Corrales I, Borràs N, Rodríguez-Trillo Á, Lourés E, et al. Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project. PLoS One. 2018 Jun 20;13(6):e0197876
DS RISalud
RD Apr 10, 2025