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Platelet dense granule defect: experience in the French population.

Delphine Borgel1,2, Agathe Beauvais3, Cécile Bally4

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Platelet dense granule defect (DGD) is an inherited bleeding disorder. This study found DGD prevalence varies from 7.5% to 37.4% based on diagnostic criteria, highlighting the need for standardized testing.

Keywords:
bleeding assessment toolblood plateletsplatelet dense granulesplatelet function testsplatelet storage pool deficiency

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Area of Science:

  • Hematology
  • Inherited bleeding disorders
  • Platelet function

Background:

  • Platelet dense granule defect (DGD) is a common inherited bleeding disorder.
  • It is frequently underdiagnosed due to diagnostic complexity and lack of standardized tools.

Purpose of the Study:

  • To determine the prevalence of DGD in a large French cohort.
  • Focus on patients with abnormal bleeding scores but normal coagulation and von Willebrand factor.

Main Methods:

  • Recruited patients with abnormal bleeding scores (ISTH-BAT) and normal coagulation.
  • Utilized platelet function tests: aggregometry, electron microscopy, mepacrine assay, CD63 expression.
  • Confirmed DGD through reproducible abnormalities across two visits.

Main Results:

  • Prevalence of DGD ranged from 7.5% (≥2 abnormalities) to 37.4% (≥1 abnormality) based on criteria.
  • No significant differences in age, sex, bleeding scores, or history between DGD and non-DGD groups.

Conclusions:

  • DGD diagnosis is highly dependent on the criteria used.
  • Standardized guidelines and repeated testing are crucial for accurate DGD diagnosis in clinical practice.