Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project
Por:
Perez-Rodriguez, A, Batlle, J, Corrales, I, Borras, N, Rodriguez-Trillo, A, Loures, E, Cid, AR, Bonanad, S, Cabrera, N, Moret, A, Parra, R, Mingot-Castellano, ME, Navarro, N, Altisent, C, Perez-Montes, R, Marcellini, S, Moreto, A, Herrero, S, Soto, I, Mosteirin, NF, Jimenez-Yuste, V, Alonso, N, Jacob, AD, Fontanes, E, Campos, R, Paloma, MJ, Bermejo, N, Berrueco, R, Mateo, J, Arribalzaga, K, Marco, P, Palomo, A, Quismondo, NC, Inigo, B, Nieto, MD, Vidal, R, Martinez, MP, Aguinaco, R, Tenorio, M, Ferreiro, M, Garcia-Frade, J, Rodriguez-Huerta, AM, Cuesta, J, Rodriguez-Gonzalez, R, Garcia-Candel, F, Dobon, M, Aguilar, C, Batlle, F, Vidal, F, Lopez-Fernandez, MF
Publicada:
20 jun 2018
Resumen:
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.
Filiaciones:
Perez-Rodriguez, A:
Complexo Hosp Univ A Coruna, Serv Hematol, INIBIC, La Coruna, Spain
Batlle, J:
Complexo Hosp Univ A Coruna, Serv Hematol, INIBIC, La Coruna, Spain
Corrales, I:
Banc Sang & Teixits, Barcelona, Spain
Univ Autonoma Barcelona VHIR UAB, Unitat Hemofilia, Vali Hebron Res Inst, Barcelona, Spain
Borras, N:
Banc Sang & Teixits, Barcelona, Spain
Univ Autonoma Barcelona VHIR UAB, Unitat Hemofilia, Vali Hebron Res Inst, Barcelona, Spain
Rodriguez-Trillo, A:
Complexo Hosp Univ A Coruna, Serv Hematol, INIBIC, La Coruna, Spain
Loures, E:
Complexo Hosp Univ A Coruna, Serv Hematol, INIBIC, La Coruna, Spain
Cid, AR:
Univ Hosp, Serv Hematol, Valencia, Spain
Politecn La Fe, Valencia, Spain
Bonanad, S:
Univ Hosp, Serv Hematol, Valencia, Spain
Politecn La Fe, Valencia, Spain
Cabrera, N:
Univ Hosp, Serv Hematol, Valencia, Spain
Politecn La Fe, Valencia, Spain
Moret, A:
Univ Hosp, Serv Hematol, Valencia, Spain
Politecn La Fe, Valencia, Spain
Parra, R:
Univ Autonoma Barcelona VHIR UAB, Unitat Hemofilia, Vali Hebron Res Inst, Barcelona, Spain
Hosp Univ Vall Hebron, Serv Hematol, Barcelona, Spain
Mingot-Castellano, ME:
Hosp Reg Univ Malaga, Serv Hematol, Malaga, Spain
Navarro, N:
Hosp Univ Dr Negrin, Serv Hematol, Las Palmas Gran Canaria, Spain
Altisent, C:
Hosp Univ Vall Hebron, Serv Hematol, Barcelona, Spain
Perez-Montes, R:
Hosp Univ Marques Valdecilla, Serv Hematol, Santander, Spain
Marcellini, S:
Serv Hematol Salud Castilla & Leon, Segovia, Spain
Moreto, A:
Hosp Univ Cruces, Serv Hematol, Baracaldo, Spain
Herrero, S:
Hosp Univ Guadalajara, Serv Hematol, Guadalajara, Spain
Soto, I:
Hosp Univ Cent Asturias, Serv Hematol, Oviedo, Spain
Mosteirin, NF:
Hosp Univ Miguel Servet, Serv Hematol, Zaragoza, Spain
Jimenez-Yuste, V:
Hosp Univ La Paz, Serv Hematol, Madrid, Spain
Alonso, N:
Hosp Infanta Cristina, Serv Hematol, Badajoz, Spain
Jacob, AD:
Complexo Hosp Univ Santiago Compostela, Serv Hematol, Santiago, Spain
Fontanes, E:
Hosp Univ Lucus Augusti, Serv Hematol, Lugo, Spain
Campos, R:
Hosp Jerez Frontera, Serv Hematol, Cadiz, Spain
Paloma, MJ:
Hosp Virgen Camino, Serv Hematol, Pamplona, Spain
Bermejo, N:
Hosp San Pedro Alcantara, Serv Hematol, Caceres, Spain
Berrueco, R:
Hosp San Juan Dios, Serv Hematol, Barcelona, Spain
Mateo, J:
Hosp Sta Creu & St Pau, Serv Hematol, Barcelona, Spain
Arribalzaga, K:
Hosp Univ Fdn Alcorcon, Serv Hematol, Madrid, Spain
Marco, P:
Hosp Gen Alicante, Serv Hematol, Alicante, Spain
Quismondo, NC:
Hosp Univ 12 Octubre, Serv Hematol, Madrid, Spain
Inigo, B:
Hosp Clin San Carlos, Serv Hematol, Madrid, Spain
Nieto, MD:
Complejo Hosp Jaen, Serv Hematol, Jaen, Spain
Vidal, R:
Fdn Jimenez Diaz, Serv Hematol, Madrid, Spain
Martinez, MP:
Hosp Nuestra Sra Sonsoles, Serv Hematol, Avila, Spain
Aguinaco, R:
Hosp Joan 23, Serv Hematol, Tarragona, Spain
Tenorio, M:
Hosp Ramon & Cajal, Serv Hematol, Madrid, Spain
Ferreiro, M:
Hosp Montecelo, Serv Hematol, Pontevedra, Spain
Garcia-Frade, J:
Hosp Rio Hortega, Serv Hematol, Valladolid, Spain
Rodriguez-Huerta, AM:
Hosp Gregorio Maranon, Serv Hematol, Madrid, Spain
Cuesta, J:
Hosp Virgen Salud, Serv Hematol, Toledo, Spain
Rodriguez-Gonzalez, R:
Hosp Severo Ochoa, Serv Hematol, Madrid, Spain
Garcia-Candel, F:
Hosp Univ Virgen Arrixaca, Serv Hematol, Murcia, Spain
Dobon, M:
Hosp Lozano Blesa, Serv Hematol, Zaragoza, Spain
Aguilar, C:
Hosp Santa Barbara, Serv Hematol, Soria, Spain
Batlle, F:
Lapisoft Project SL, Dept Res, La Coruna, Spain
Vidal, F:
Banc Sang & Teixits, Barcelona, Spain
Univ Autonoma Barcelona VHIR UAB, Unitat Hemofilia, Vali Hebron Res Inst, Barcelona, Spain
GIBER Enfermedades Cardiovasc CIBERCV, Barcelona, Spain
Lopez-Fernandez, MF:
Complexo Hosp Univ A Coruna, Serv Hematol, INIBIC, La Coruna, Spain
Green Submitted, gold, Green Published
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