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2B von Willebrand disease diagnosis: Considerations reflecting on 2021 multisociety guidelines

The recent American Society of Hematology/ISTH/National Hemophilia Foundation/World Federation of Hemophilia 2021 guidelines on the diagnosis of von Willebrand disease (VWD) is an outstanding effort to unify the diagnosis of VWD. However, as mentioned in the guidelines, there are limitations due to...

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Autores principales: Othman, Maha, Favaloro, Emmanuel J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8689114/
https://www.ncbi.nlm.nih.gov/pubmed/34977447
http://dx.doi.org/10.1002/rth2.12635
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author Othman, Maha
Favaloro, Emmanuel J.
author_facet Othman, Maha
Favaloro, Emmanuel J.
author_sort Othman, Maha
collection PubMed
description The recent American Society of Hematology/ISTH/National Hemophilia Foundation/World Federation of Hemophilia 2021 guidelines on the diagnosis of von Willebrand disease (VWD) is an outstanding effort to unify the diagnosis of VWD. However, as mentioned in the guidelines, there are limitations due to the low certainty in the evidence identified for most questions. The panel encouraged critical review of the guidelines. Compared to other subtypes, there is considerable complexity with diagnosis of type 2B VWD, a type that results from a gain‐of‐function mutation in the VWF gene. Additionally, the discrimination from its phenocopy platelet‐type VWD, representing a gain‐of‐function mutation in the GP1BA gene, is crucial as this determines treatment decisions. In this forum, we highlight the complexities of a type 2B VWD diagnosis; discuss important issues with respect to these complexities: genotype/phenotype/clinical correlations, challenges with platelet aggregation and ristocetin‐induced platelet agglutination testing, platelet count, and thrombocytopathy; and, finally, suggest the consideration of some of these complexities in future iterations of the VWD guidelines.
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spelling pubmed-86891142021-12-30 2B von Willebrand disease diagnosis: Considerations reflecting on 2021 multisociety guidelines Othman, Maha Favaloro, Emmanuel J. Res Pract Thromb Haemost Forum The recent American Society of Hematology/ISTH/National Hemophilia Foundation/World Federation of Hemophilia 2021 guidelines on the diagnosis of von Willebrand disease (VWD) is an outstanding effort to unify the diagnosis of VWD. However, as mentioned in the guidelines, there are limitations due to the low certainty in the evidence identified for most questions. The panel encouraged critical review of the guidelines. Compared to other subtypes, there is considerable complexity with diagnosis of type 2B VWD, a type that results from a gain‐of‐function mutation in the VWF gene. Additionally, the discrimination from its phenocopy platelet‐type VWD, representing a gain‐of‐function mutation in the GP1BA gene, is crucial as this determines treatment decisions. In this forum, we highlight the complexities of a type 2B VWD diagnosis; discuss important issues with respect to these complexities: genotype/phenotype/clinical correlations, challenges with platelet aggregation and ristocetin‐induced platelet agglutination testing, platelet count, and thrombocytopathy; and, finally, suggest the consideration of some of these complexities in future iterations of the VWD guidelines. John Wiley and Sons Inc. 2021-12-20 /pmc/articles/PMC8689114/ /pubmed/34977447 http://dx.doi.org/10.1002/rth2.12635 Text en © 2021 The Authors. Research and Practice in Thrombosis and Haemostasis published by Wiley Periodicals LLC on behalf of International Society on Thrombosis and Haemostasis (ISTH). https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Forum
Othman, Maha
Favaloro, Emmanuel J.
2B von Willebrand disease diagnosis: Considerations reflecting on 2021 multisociety guidelines
title 2B von Willebrand disease diagnosis: Considerations reflecting on 2021 multisociety guidelines
title_full 2B von Willebrand disease diagnosis: Considerations reflecting on 2021 multisociety guidelines
title_fullStr 2B von Willebrand disease diagnosis: Considerations reflecting on 2021 multisociety guidelines
title_full_unstemmed 2B von Willebrand disease diagnosis: Considerations reflecting on 2021 multisociety guidelines
title_short 2B von Willebrand disease diagnosis: Considerations reflecting on 2021 multisociety guidelines
title_sort 2b von willebrand disease diagnosis: considerations reflecting on 2021 multisociety guidelines
topic Forum
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8689114/
https://www.ncbi.nlm.nih.gov/pubmed/34977447
http://dx.doi.org/10.1002/rth2.12635
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