Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project.
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...
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2018-01-01
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| author | Almudena Pérez-Rodríguez Javier Batlle Irene Corrales Nina Borràs Ángela Rodríguez-Trillo Esther Lourés Ana Rosa Cid Santiago Bonanad Noelia Cabrera Andrés Moret Rafael Parra María Eva Mingot-Castellano Nira Navarro Carmen Altisent Rocío Pérez-Montes Shally Marcellini Ana Moreto Sonia Herrero Inmaculada Soto Nuria Fernández Mosteirín Víctor Jiménez-Yuste Nieves Alonso Aurora de Andrés Jacob Emilia Fontanes Rosa Campos María José Paloma Nuria Bermejo Rubén Berrueco José Mateo Karmele Arribalzaga Pascual Marco Ángeles Palomo Nerea Castro Quismondo Belén Iñigo María Del Mar Nieto Rosa Vidal María Paz Martínez Reyes Aguinaco Maria Tenorio María Ferreiro Javier García-Frade Ana María Rodríguez-Huerta Jorge Cuesta Ramón Rodríguez-González Faustino García-Candel Manuela Dobón Carlos Aguilar Fernando Batlle Francisco Vidal María Fernanda López-Fernández |
| author_facet | Almudena Pérez-Rodríguez Javier Batlle Irene Corrales Nina Borràs Ángela Rodríguez-Trillo Esther Lourés Ana Rosa Cid Santiago Bonanad Noelia Cabrera Andrés Moret Rafael Parra María Eva Mingot-Castellano Nira Navarro Carmen Altisent Rocío Pérez-Montes Shally Marcellini Ana Moreto Sonia Herrero Inmaculada Soto Nuria Fernández Mosteirín Víctor Jiménez-Yuste Nieves Alonso Aurora de Andrés Jacob Emilia Fontanes Rosa Campos María José Paloma Nuria Bermejo Rubén Berrueco José Mateo Karmele Arribalzaga Pascual Marco Ángeles Palomo Nerea Castro Quismondo Belén Iñigo María Del Mar Nieto Rosa Vidal María Paz Martínez Reyes Aguinaco Maria Tenorio María Ferreiro Javier García-Frade Ana María Rodríguez-Huerta Jorge Cuesta Ramón Rodríguez-González Faustino García-Candel Manuela Dobón Carlos Aguilar Fernando Batlle Francisco Vidal María Fernanda López-Fernández |
| author_sort | Almudena Pérez-Rodríguez |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-5e94502fc1b040e6a7ae3d310804e4e9 |
| institution | DOAJ |
| issn | 1932-6203 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj-art-5e94502fc1b040e6a7ae3d310804e4e92025-08-20T02:46:02ZengPublic Library of Science (PLoS)PLoS ONE1932-62032018-01-01136e019787610.1371/journal.pone.0197876Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project.Almudena Pérez-RodríguezJavier BatlleIrene CorralesNina BorràsÁngela Rodríguez-TrilloEsther LourésAna Rosa CidSantiago BonanadNoelia CabreraAndrés MoretRafael ParraMaría Eva Mingot-CastellanoNira NavarroCarmen AltisentRocío Pérez-MontesShally MarcelliniAna MoretoSonia HerreroInmaculada SotoNuria Fernández MosteirínVíctor Jiménez-YusteNieves AlonsoAurora de Andrés JacobEmilia FontanesRosa CamposMaría José PalomaNuria BermejoRubén BerruecoJosé MateoKarmele ArribalzagaPascual MarcoÁngeles PalomoNerea Castro QuismondoBelén IñigoMaría Del Mar NietoRosa VidalMaría Paz MartínezReyes AguinacoMaria TenorioMaría FerreiroJavier García-FradeAna María Rodríguez-HuertaJorge CuestaRamón Rodríguez-GonzálezFaustino García-CandelManuela DobónCarlos AguilarFernando BatlleFrancisco VidalMaría Fernanda López-FernándezThe 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.https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0197876&type=printable |
| spellingShingle | Almudena Pérez-Rodríguez Javier Batlle Irene Corrales Nina Borràs Ángela Rodríguez-Trillo Esther Lourés Ana Rosa Cid Santiago Bonanad Noelia Cabrera Andrés Moret Rafael Parra María Eva Mingot-Castellano Nira Navarro Carmen Altisent Rocío Pérez-Montes Shally Marcellini Ana Moreto Sonia Herrero Inmaculada Soto Nuria Fernández Mosteirín Víctor Jiménez-Yuste Nieves Alonso Aurora de Andrés Jacob Emilia Fontanes Rosa Campos María José Paloma Nuria Bermejo Rubén Berrueco José Mateo Karmele Arribalzaga Pascual Marco Ángeles Palomo Nerea Castro Quismondo Belén Iñigo María Del Mar Nieto Rosa Vidal María Paz Martínez Reyes Aguinaco Maria Tenorio María Ferreiro Javier García-Frade Ana María Rodríguez-Huerta Jorge Cuesta Ramón Rodríguez-González Faustino García-Candel Manuela Dobón Carlos Aguilar Fernando Batlle Francisco Vidal María Fernanda López-Fernández 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 |
| title | Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project. |
| title_full | Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project. |
| title_fullStr | Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project. |
| title_full_unstemmed | Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project. |
| title_short | Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project. |
| title_sort | role of multimeric analysis of von willebrand factor vwf in von willebrand disease vwd diagnosis lessons from the pcm evw es spanish project |
| url | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0197876&type=printable |
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