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dc.contributor.author
Sánchez Luceros, Analía Gabriela
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Woods, Adriana Inés
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Bermejo, Emilse
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Shukla, Shilpa
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Acharya, Suchitra
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Lavin, Michelle
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Rydz, Natalia
dc.contributor.author
Othman, Maha
dc.date.available
2018-05-13T18:19:48Z
dc.date.issued
2016-11
dc.identifier.citation
Sánchez Luceros, Analía Gabriela; Woods, Adriana Inés; Bermejo, Emilse; Shukla, Shilpa; Acharya, Suchitra; et al.; PT-VWD posing diagnostic and therapeutic challenges-small case series.; Taylor & Francis Ltd; Platelets; 28; 5; 11-2016; 484-490
dc.identifier.issn
0953-7104
dc.identifier.uri
http://hdl.handle.net/11336/45025
dc.description.abstract
Despite the increased worldwide awareness, over the last decade, of the platelet-type von Willebrand Disease (PT-VWD), many uncertainties remain around this rare platelet bleeding disorder. This report aims to correctly identify and study the phenotype of new patients and highlights the diagnostic and therapeutic challenges this disease remains to pose. We describe four PT-VWD cases confirmed by genetic analysis in which either the diagnosis and/or the treatment posed challenge. We provide the details of the clinical presentation, laboratory analysis, and the treatment and the responses in each case. We show that in addition to type 2B VWD, PT-VWD can be misdiagnosed as idiopathic thrombocytopenic purpura, neonatal alloimmune thrombocytopenia, and unexplained gestational thrombocytopenia. The disease can be diagnosed as early as 1 year of age and with phenotypically normal parents. Bleeding in some patients can be managed successfully using Humate P and DDAVP combined with tranexamic acid with no significant thrombocytopenia. We provide for the first time an evidence of an efficient response to rFVIIa in PT-VWD. Anaphylactic reaction to VWF preparations may be related to PT-VWD and the development of HLA antibodies is not uncommon. Progressive thrombocytopenia with normal VWF levels can be seen with PT-VWD and the platelet count was normalized at 2.5 weeks postpartum in one case. We conclude that these studies represent a record of clinical observations/interventions that help improve diagnoses/management of PT-VWD, highlight the variations in age and clinical presentations, laboratory diagnostic approaches, the importance of genetic testing for accurate diagnosis and consideration of therapeutic alternatives.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Taylor & Francis Ltd
dc.rights
info:eu-repo/semantics/restrictedAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Pt-Vwd
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Hemorrhage
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Genothype
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Vwd
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Phenotype
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Von Willebrand Diseases
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Factor Viii
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Patología
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Medicina Básica
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CIENCIAS MÉDICAS Y DE LA SALUD
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Hematología
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Medicina Clínica
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CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
PT-VWD posing diagnostic and therapeutic challenges-small case series.
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2018-04-16T14:28:28Z
dc.identifier.eissn
1369-1635
dc.journal.volume
28
dc.journal.number
5
dc.journal.pagination
484-490
dc.journal.pais
Reino Unido
dc.journal.ciudad
Londres
dc.description.fil
Fil: Sánchez Luceros, Analía Gabriela. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas ; Argentina
dc.description.fil
Fil: Woods, Adriana Inés. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
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Fil: Bermejo, Emilse. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas ; Argentina
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Fil: Shukla, Shilpa. Academia Nacional de Medicina de Buenos Aires; Argentina
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Fil: Acharya, Suchitra. Cohen's Children Medical Center of New York; Estados Unidos
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Fil: Lavin, Michelle. St. James Hospital; Irlanda
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Fil: Rydz, Natalia. University of Calgary; Canadá
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Fil: Othman, Maha. Queens University; Canadá
dc.journal.title
Platelets
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.tandfonline.com/doi/abs/10.1080/09537104.2016.1237625?journalCode=iplt20
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1080/09537104.2016.1237625
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