Validation of immunofluorescence analysis of blood smears in patients with inherited platelet disorders
(2023) In Journal of Thrombosis and Haemostasis 21(4). p.1010-1019- Abstract
Background: Inherited platelet disorders (IPDs) are rare diseases characterized by reduced blood platelet counts and/or impaired platelet function. Recognizing IPDs is advisable but often challenging. The diagnostic tools include clinical evaluation, platelet function tests, and molecular analyses. Demonstration of a pathogenic genetic variant confirms IPDs. We established a method to assess the platelet phenotype on blood smears using immunofluorescence microscopy as a diagnostic tool for IPDs. Objectives: The aim of the present study was to validate immunofluorescence microscopy as a screening tool for IPDs in comparison with genetic screening. Methods: We performed a blinded comparison between the diagnosis made using... (More)
Background: Inherited platelet disorders (IPDs) are rare diseases characterized by reduced blood platelet counts and/or impaired platelet function. Recognizing IPDs is advisable but often challenging. The diagnostic tools include clinical evaluation, platelet function tests, and molecular analyses. Demonstration of a pathogenic genetic variant confirms IPDs. We established a method to assess the platelet phenotype on blood smears using immunofluorescence microscopy as a diagnostic tool for IPDs. Objectives: The aim of the present study was to validate immunofluorescence microscopy as a screening tool for IPDs in comparison with genetic screening. Methods: We performed a blinded comparison between the diagnosis made using immunofluorescence microscopy on blood smears and genetic findings in a cohort of 43 families affected with 20 different genetically confirmed IPDs. In total, 76% of the cases had inherited thrombocytopenia. Results: Immunofluorescence correctly predicted the underlying IPD in the vast majority of patients with 1 of 9 IPDs for which the typical morphologic pattern is known. Thirty of the 43 enrolled families (70%) were affected by 1 of these 9 IPDs. For the other 11 forms of IPD, we describe alterations of platelet structure in 9 disorders and normal findings in 2 disorders. Conclusion: Immunofluorescence microscopy on blood smears is an effective screening tool for 9 forms of IPD, which include the most frequent forms of inherited thrombocytopenia. Using this approach, typical changes in the phenotype may also be identified for other rare IPDs.
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- author
- Zaninetti, Carlo ; Leinøe, Eva ; Lozano, María Luisa ; Rossing, Maria ; Bastida, Jose Maria ; Zetterberg, Eva LU ; Rivera, Jose and Greinacher, Andreas
- organization
- publishing date
- 2023-04
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- blood platelet disorders, blood platelets, genetic testing, immunofluorescence, thrombocytopenia
- in
- Journal of Thrombosis and Haemostasis
- volume
- 21
- issue
- 4
- pages
- 10 pages
- publisher
- Wiley-Blackwell
- external identifiers
-
- pmid:36732160
- scopus:85150303447
- ISSN
- 1538-7933
- DOI
- 10.1016/j.jtha.2022.12.031
- language
- English
- LU publication?
- yes
- id
- 2daaae9f-1977-40f4-ae37-20760104b56e
- date added to LUP
- 2023-07-04 10:34:07
- date last changed
- 2024-04-19 23:13:20
@article{2daaae9f-1977-40f4-ae37-20760104b56e,
abstract = {{<p>Background: Inherited platelet disorders (IPDs) are rare diseases characterized by reduced blood platelet counts and/or impaired platelet function. Recognizing IPDs is advisable but often challenging. The diagnostic tools include clinical evaluation, platelet function tests, and molecular analyses. Demonstration of a pathogenic genetic variant confirms IPDs. We established a method to assess the platelet phenotype on blood smears using immunofluorescence microscopy as a diagnostic tool for IPDs. Objectives: The aim of the present study was to validate immunofluorescence microscopy as a screening tool for IPDs in comparison with genetic screening. Methods: We performed a blinded comparison between the diagnosis made using immunofluorescence microscopy on blood smears and genetic findings in a cohort of 43 families affected with 20 different genetically confirmed IPDs. In total, 76% of the cases had inherited thrombocytopenia. Results: Immunofluorescence correctly predicted the underlying IPD in the vast majority of patients with 1 of 9 IPDs for which the typical morphologic pattern is known. Thirty of the 43 enrolled families (70%) were affected by 1 of these 9 IPDs. For the other 11 forms of IPD, we describe alterations of platelet structure in 9 disorders and normal findings in 2 disorders. Conclusion: Immunofluorescence microscopy on blood smears is an effective screening tool for 9 forms of IPD, which include the most frequent forms of inherited thrombocytopenia. Using this approach, typical changes in the phenotype may also be identified for other rare IPDs.</p>}},
author = {{Zaninetti, Carlo and Leinøe, Eva and Lozano, María Luisa and Rossing, Maria and Bastida, Jose Maria and Zetterberg, Eva and Rivera, Jose and Greinacher, Andreas}},
issn = {{1538-7933}},
keywords = {{blood platelet disorders; blood platelets; genetic testing; immunofluorescence; thrombocytopenia}},
language = {{eng}},
number = {{4}},
pages = {{1010--1019}},
publisher = {{Wiley-Blackwell}},
series = {{Journal of Thrombosis and Haemostasis}},
title = {{Validation of immunofluorescence analysis of blood smears in patients with inherited platelet disorders}},
url = {{http://dx.doi.org/10.1016/j.jtha.2022.12.031}},
doi = {{10.1016/j.jtha.2022.12.031}},
volume = {{21}},
year = {{2023}},
}