Clinical Features And Laboratory Patterns In A Cohort Of Consecutive Argentinian Patients With Von Willebrand's Disease

Autores
Woods, Adriana Inés; Meschengieser, S. S.; Blanco, A. N.; Salviu, M. J.; Farias, Cristina Elena; Kempfer, Ana Catalina; Lazzari, María Ángela
Año de publicación
2001
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Background and Objectives. von Willebrand's disease (vWD) is a bleeding disorder with variable clinical expression. Our aim was to classify patients with vWD and to determine the phenotype in their relatives. Design and Methods. The types and subtypes, blood group frequency and its relevance, bleeding sites, response to the desmopressin (DDAVP) test, transfusion requirements and clinical features in type 1 and 2A families were determined in 1,885 patients. Results. Our findings were: type 1: 91%, type 2A: 3.1%, severe vWD: 1.3%; type 2N: 1.6%; type low intraplatelet: 2.7%; combined 1+2N: 0.3%. Blood group O prevalence was 70.5%. Bleeding and transfusion requirements were not correlated to blood groups. The most frequent symptoms were: ecchymoses-hematomas and epistaxis and, in females over 13 years, also menorrhagia. Normal levels of factor VIII:C were found in 38.4% of the patients. DDAVP was infused in 567 patients with a good response in 80.6%. About 9% of our patients needed transfusion therapy. The diagnosis of von Willebrand’s disease is more likely in subjects belonging to families with type 2A disease than in members of families with type 1 vWD in spite of these being symptomatic. Interpretation and Conclusions. These observations provide a good strategy to identify, classify and treat vWD patients without performing molecular assays.
Fil: Woods, Adriana Inés. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires; Argentina
Fil: Meschengieser, S. S.. Academia Nacional de Medicina de Buenos Aires; Argentina
Fil: Blanco, A. N.. Academia Nacional de Medicina de Buenos Aires; Argentina
Fil: Salviu, M. J.. Academia Nacional de Medicina de Buenos Aires; Argentina
Fil: Farias, Cristina Elena. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires; Argentina
Fil: Kempfer, Ana Catalina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires; Argentina
Fil: Lazzari, María Ángela. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires; Argentina
Materia
vWD variants;
DDAVP
Symptoms
Laboratory assay
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/55139
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/55139
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Clinical Features And Laboratory Patterns In A Cohort Of Consecutive Argentinian Patients With Von Willebrand's DiseaseWoods, Adriana InésMeschengieser, S. S.Blanco, A. N.Salviu, M. J.Farias, Cristina ElenaKempfer, Ana CatalinaLazzari, María ÁngelavWD variants;DDAVPSymptomsLaboratory assayhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Background and Objectives. von Willebrand's disease (vWD) is a bleeding disorder with variable clinical expression. Our aim was to classify patients with vWD and to determine the phenotype in their relatives. Design and Methods. The types and subtypes, blood group frequency and its relevance, bleeding sites, response to the desmopressin (DDAVP) test, transfusion requirements and clinical features in type 1 and 2A families were determined in 1,885 patients. Results. Our findings were: type 1: 91%, type 2A: 3.1%, severe vWD: 1.3%; type 2N: 1.6%; type low intraplatelet: 2.7%; combined 1+2N: 0.3%. Blood group O prevalence was 70.5%. Bleeding and transfusion requirements were not correlated to blood groups. The most frequent symptoms were: ecchymoses-hematomas and epistaxis and, in females over 13 years, also menorrhagia. Normal levels of factor VIII:C were found in 38.4% of the patients. DDAVP was infused in 567 patients with a good response in 80.6%. About 9% of our patients needed transfusion therapy. The diagnosis of von Willebrand’s disease is more likely in subjects belonging to families with type 2A disease than in members of families with type 1 vWD in spite of these being symptomatic. Interpretation and Conclusions. These observations provide a good strategy to identify, classify and treat vWD patients without performing molecular assays.Fil: Woods, Adriana Inés. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires; ArgentinaFil: Meschengieser, S. S.. Academia Nacional de Medicina de Buenos Aires; ArgentinaFil: Blanco, A. N.. Academia Nacional de Medicina de Buenos Aires; ArgentinaFil: Salviu, M. J.. Academia Nacional de Medicina de Buenos Aires; ArgentinaFil: Farias, Cristina Elena. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires; ArgentinaFil: Kempfer, Ana Catalina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires; ArgentinaFil: Lazzari, María Ángela. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires; ArgentinaFerrata Storti Foundation2001-04info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/55139Woods, Adriana Inés; Meschengieser, S. S.; Blanco, A. N.; Salviu, M. J.; Farias, Cristina Elena; et al.; Clinical Features And Laboratory Patterns In A Cohort Of Consecutive Argentinian Patients With Von Willebrand's Disease; Ferrata Storti Foundation; Haematologica; 86; 4-2001; 420-4270390-60781592-8721CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/http://www.haematologica.org/content/86/4/420info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:35:35Zoai:ri.conicet.gov.ar:11336/55139instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 09:35:36.235CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Clinical Features And Laboratory Patterns In A Cohort Of Consecutive Argentinian Patients With Von Willebrand's Disease
title Clinical Features And Laboratory Patterns In A Cohort Of Consecutive Argentinian Patients With Von Willebrand's Disease
spellingShingle Clinical Features And Laboratory Patterns In A Cohort Of Consecutive Argentinian Patients With Von Willebrand's Disease
Woods, Adriana Inés
vWD variants;
DDAVP
Symptoms
Laboratory assay
title_short Clinical Features And Laboratory Patterns In A Cohort Of Consecutive Argentinian Patients With Von Willebrand's Disease
title_full Clinical Features And Laboratory Patterns In A Cohort Of Consecutive Argentinian Patients With Von Willebrand's Disease
title_fullStr Clinical Features And Laboratory Patterns In A Cohort Of Consecutive Argentinian Patients With Von Willebrand's Disease
title_full_unstemmed Clinical Features And Laboratory Patterns In A Cohort Of Consecutive Argentinian Patients With Von Willebrand's Disease
title_sort Clinical Features And Laboratory Patterns In A Cohort Of Consecutive Argentinian Patients With Von Willebrand's Disease
dc.creator.none.fl_str_mv Woods, Adriana Inés
Meschengieser, S. S.
Blanco, A. N.
Salviu, M. J.
Farias, Cristina Elena
Kempfer, Ana Catalina
Lazzari, María Ángela
author Woods, Adriana Inés
author_facet Woods, Adriana Inés
Meschengieser, S. S.
Blanco, A. N.
Salviu, M. J.
Farias, Cristina Elena
Kempfer, Ana Catalina
Lazzari, María Ángela
author_role author
author2 Meschengieser, S. S.
Blanco, A. N.
Salviu, M. J.
Farias, Cristina Elena
Kempfer, Ana Catalina
Lazzari, María Ángela
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv vWD variants;
DDAVP
Symptoms
Laboratory assay
topic vWD variants;
DDAVP
Symptoms
Laboratory assay
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Background and Objectives. von Willebrand's disease (vWD) is a bleeding disorder with variable clinical expression. Our aim was to classify patients with vWD and to determine the phenotype in their relatives. Design and Methods. The types and subtypes, blood group frequency and its relevance, bleeding sites, response to the desmopressin (DDAVP) test, transfusion requirements and clinical features in type 1 and 2A families were determined in 1,885 patients. Results. Our findings were: type 1: 91%, type 2A: 3.1%, severe vWD: 1.3%; type 2N: 1.6%; type low intraplatelet: 2.7%; combined 1+2N: 0.3%. Blood group O prevalence was 70.5%. Bleeding and transfusion requirements were not correlated to blood groups. The most frequent symptoms were: ecchymoses-hematomas and epistaxis and, in females over 13 years, also menorrhagia. Normal levels of factor VIII:C were found in 38.4% of the patients. DDAVP was infused in 567 patients with a good response in 80.6%. About 9% of our patients needed transfusion therapy. The diagnosis of von Willebrand’s disease is more likely in subjects belonging to families with type 2A disease than in members of families with type 1 vWD in spite of these being symptomatic. Interpretation and Conclusions. These observations provide a good strategy to identify, classify and treat vWD patients without performing molecular assays.
Fil: Woods, Adriana Inés. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires; Argentina
Fil: Meschengieser, S. S.. Academia Nacional de Medicina de Buenos Aires; Argentina
Fil: Blanco, A. N.. Academia Nacional de Medicina de Buenos Aires; Argentina
Fil: Salviu, M. J.. Academia Nacional de Medicina de Buenos Aires; Argentina
Fil: Farias, Cristina Elena. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires; Argentina
Fil: Kempfer, Ana Catalina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires; Argentina
Fil: Lazzari, María Ángela. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires; Argentina
description Background and Objectives. von Willebrand's disease (vWD) is a bleeding disorder with variable clinical expression. Our aim was to classify patients with vWD and to determine the phenotype in their relatives. Design and Methods. The types and subtypes, blood group frequency and its relevance, bleeding sites, response to the desmopressin (DDAVP) test, transfusion requirements and clinical features in type 1 and 2A families were determined in 1,885 patients. Results. Our findings were: type 1: 91%, type 2A: 3.1%, severe vWD: 1.3%; type 2N: 1.6%; type low intraplatelet: 2.7%; combined 1+2N: 0.3%. Blood group O prevalence was 70.5%. Bleeding and transfusion requirements were not correlated to blood groups. The most frequent symptoms were: ecchymoses-hematomas and epistaxis and, in females over 13 years, also menorrhagia. Normal levels of factor VIII:C were found in 38.4% of the patients. DDAVP was infused in 567 patients with a good response in 80.6%. About 9% of our patients needed transfusion therapy. The diagnosis of von Willebrand’s disease is more likely in subjects belonging to families with type 2A disease than in members of families with type 1 vWD in spite of these being symptomatic. Interpretation and Conclusions. These observations provide a good strategy to identify, classify and treat vWD patients without performing molecular assays.
publishDate 2001
dc.date.none.fl_str_mv 2001-04
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/55139
Woods, Adriana Inés; Meschengieser, S. S.; Blanco, A. N.; Salviu, M. J.; Farias, Cristina Elena; et al.; Clinical Features And Laboratory Patterns In A Cohort Of Consecutive Argentinian Patients With Von Willebrand's Disease; Ferrata Storti Foundation; Haematologica; 86; 4-2001; 420-427
0390-6078
1592-8721
CONICET Digital
CONICET
url http://hdl.handle.net/11336/55139
identifier_str_mv Woods, Adriana Inés; Meschengieser, S. S.; Blanco, A. N.; Salviu, M. J.; Farias, Cristina Elena; et al.; Clinical Features And Laboratory Patterns In A Cohort Of Consecutive Argentinian Patients With Von Willebrand's Disease; Ferrata Storti Foundation; Haematologica; 86; 4-2001; 420-427
0390-6078
1592-8721
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/http://www.haematologica.org/content/86/4/420
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Ferrata Storti Foundation
publisher.none.fl_str_mv Ferrata Storti Foundation
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.070432

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