Von Willebrand disease type 2B with a novel mutation in the VWF gene

We report a 38-year-old woman who presented with a subdural hematoma after minor facial trauma in a stressful situation. The laboratory data showed a subnormal platelet count (166×10(9)/L), VWF:RCo activity was 45% and VWF:Ag was 53% with a VWF:RCo/VWF Ag ratio of 0.79. Hemostasis results and gene a...

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Detalles Bibliográficos
Autores principales: Jeraiby, Mohammed Abdullah, Sophie, Susen, Caron, Claudine, Campos, Lydia, Brigitte, Tardy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: King Faisal Specialist Hospital and Research Centre 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7868623/
https://www.ncbi.nlm.nih.gov/pubmed/33550910
http://dx.doi.org/10.5144/0256-4947.2021.59
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author Jeraiby, Mohammed Abdullah
Sophie, Susen
Caron, Claudine
Campos, Lydia
Brigitte, Tardy
author_facet Jeraiby, Mohammed Abdullah
Sophie, Susen
Caron, Claudine
Campos, Lydia
Brigitte, Tardy
author_sort Jeraiby, Mohammed Abdullah
collection PubMed
description We report a 38-year-old woman who presented with a subdural hematoma after minor facial trauma in a stressful situation. The laboratory data showed a subnormal platelet count (166×10(9)/L), VWF:RCo activity was 45% and VWF:Ag was 53% with a VWF:RCo/VWF Ag ratio of 0.79. Hemostasis results and gene analysis revealed von Willebrand disease (VWD) type 2B with normal multimers and a novel mutation c.4136 G>T (R1379L), which appears to be a novel mutation of VWD type 2B that is mainly diagnosed with hypersensitivity to ristocetin and an hyperfixation of platelet Willebrand to a recombinant Gp1b. SIMILAR CASES PUBLISHED: None.
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spelling pubmed-78686232021-02-09 Von Willebrand disease type 2B with a novel mutation in the VWF gene Jeraiby, Mohammed Abdullah Sophie, Susen Caron, Claudine Campos, Lydia Brigitte, Tardy Ann Saudi Med Case Report We report a 38-year-old woman who presented with a subdural hematoma after minor facial trauma in a stressful situation. The laboratory data showed a subnormal platelet count (166×10(9)/L), VWF:RCo activity was 45% and VWF:Ag was 53% with a VWF:RCo/VWF Ag ratio of 0.79. Hemostasis results and gene analysis revealed von Willebrand disease (VWD) type 2B with normal multimers and a novel mutation c.4136 G>T (R1379L), which appears to be a novel mutation of VWD type 2B that is mainly diagnosed with hypersensitivity to ristocetin and an hyperfixation of platelet Willebrand to a recombinant Gp1b. SIMILAR CASES PUBLISHED: None. King Faisal Specialist Hospital and Research Centre 2021-01 2021-02-04 /pmc/articles/PMC7868623/ /pubmed/33550910 http://dx.doi.org/10.5144/0256-4947.2021.59 Text en Copyright © 2021, Annals of Saudi Medicine, Saudi Arabia This is an open access article under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND). The details of which can be accessed at http://creativecommons.org/licenses/by-nc-nd/4.0/
spellingShingle Case Report
Jeraiby, Mohammed Abdullah
Sophie, Susen
Caron, Claudine
Campos, Lydia
Brigitte, Tardy
Von Willebrand disease type 2B with a novel mutation in the VWF gene
title Von Willebrand disease type 2B with a novel mutation in the VWF gene
title_full Von Willebrand disease type 2B with a novel mutation in the VWF gene
title_fullStr Von Willebrand disease type 2B with a novel mutation in the VWF gene
title_full_unstemmed Von Willebrand disease type 2B with a novel mutation in the VWF gene
title_short Von Willebrand disease type 2B with a novel mutation in the VWF gene
title_sort von willebrand disease type 2b with a novel mutation in the vwf gene
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7868623/
https://www.ncbi.nlm.nih.gov/pubmed/33550910
http://dx.doi.org/10.5144/0256-4947.2021.59
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