Year: 2026
Type: article
Study design: Observational Study
Abstract: Background: Platelet dense granule defect (DGD) is a frequent inherited disorder that is underdiagnosed due to its complexity and poor standardization of diagnostic tools. Objectives: To assess the prevalence of DGD in a large real-life French cohort of patients with an abnormal bleeding score. Methods: /L, were recruited between December 2019 and March 2023 across 8 French expert centers. At the first visit, platelet function testing included light transmission aggregometry, whole-mount transmission electron microscopy, the mepacrine assay, and evaluation of CD63 expression. Patients with suspected DGD, based on prior testing, were included directly at the confirmatory visit (V2). DGD was defined by abnormal results on whole-mount transmission electron microscopy, mepacrine assay, or CD63 assay, and was considered confirmed if abnormalities were reproducible across both visits. Results: Of the 119 patients included at the inclusion visit, 66 had at least 1 abnormal dense granule test, including 19 with ≤2. Among the 54 patients seen at confirmatory visit , 40 had confirmed abnormalities, including 8 with at least 2 abnormal tests. Depending on diagnostic criteria, DGD prevalence ranged from 7.5% (≥2 abnormalities) to 37.4% (≥1 abnormality). Among 46 patients included at confirmatory visit, 30 had a confirmed DGD, including 11 with at least 2 abnormalities. No significant differences in age, sex, International Society on Thrombosis and Haemostasis Bleeding Assessment Tool scores, or bleeding history were observed between patients with or without DGD. Conclusion: DGD diagnosis in clinical practice depends on the criteria used. Standardized guidelines and repeated testing are essential for improving diagnostic accuracy.
Authors: Delphine Borgel, Agathe Beauvais, Cécile Bally, Manal Ibrahim-Kosta, Annabelle Dupont, Camille Paris, Caroline Vayne, Sophie Voisin, Valérie Goin, Guillaume Nam-Nguyen, Rémi Favier, Arnaud Dupuis, Sebastien Eymieux, Jean-Claude Bordet, Emmanuelle Blanchard, Claire Auditeau, Dominique Lasne, Annie Harroche, Marie-Christine Alessi, Mathieu Fiore
Institutions: Hôpital Necker-Enfants Malades, Inserm, Assistance Publique – Hôpitaux de Paris, Laboratoire d'hématologie, Sorbonne Université, Hôpital Saint-Antoine, Aix-Marseille Université, Institut National de Recherche pour l'Agriculture, l'Alimentation et l'Environnement, Centre Hospitalier Universitaire de Lille, Université de Tours, Centre Hospitalier Universitaire de Tours, Centre Hospitalier Universitaire de Toulouse, Université de Bordeaux, Centre Hospitalier Universitaire de Bordeaux, Biologie des maladies cardiovasculaires, Hôpital Armand-Trousseau, Établissement Français du Sang, Analyse des Systèmes Biologiques, Lyon 1 Université, Hémostase & Thrombose
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,250
OpenAlex ID: W7126029487