Validation of immunofluorescence analysis of blood smears in patients with inherited platelet disorders

Carlo Zaninetti, Eva Leinøe, María Luisa Lozano, Maria Rossing, Jose Maria Bastida, Eva Zetterberg, Jose Rivera, Andreas Greinacher*

*Corresponding author for this work
3 Citations (Scopus)

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 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 languageEnglish
JournalJournal of thrombosis and haemostasis : JTH
Volume21
Issue number4
Pages (from-to)1010-1019
Number of pages10
ISSN1538-7933
DOIs
Publication statusPublished - Apr 2023

Keywords

  • blood platelet disorders
  • blood platelets
  • genetic testing
  • immunofluorescence
  • thrombocytopenia

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