Validation of immunofluorescence analysis of blood smears in patients with inherited platelet disorders
Research output: Contribution to journal › Journal article › Research › peer-review
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.
Original language | English |
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Journal | Journal of Thrombosis and Haemostasis |
Volume | 21 |
Issue number | 4 |
Pages (from-to) | 1010-1019 |
Number of pages | 10 |
ISSN | 1538-7933 |
DOIs | |
Publication status | Published - 2023 |
Bibliographical note
Copyright © 2023 International Society on Thrombosis and Haemostasis. Published by Elsevier Inc. All rights reserved.
- Humans, Blood Platelet Disorders/diagnosis, Blood Platelets/pathology, Thrombocytopenia/pathology, Platelet Function Tests, Fluorescent Antibody Technique
Research areas
ID: 386605621