Clinical, laboratory and ultrastructural findings in patients with storage pool disease: A case series

Abstract

Introduction: Platelet storage pool diseases (SPD) are a heterogeneous group of bleeding disorders associated with defects in the storage, secretion, or release of platelet granules. Patients with SPD present with a life-long mucocutaneous bleeding diathesis. Our goal was to study the clinical, laboratory, and ultrastructural changes in platelets of patients diagnosed with SPD using a transmission electron microscope (TEM). Methods: In this retrospective, cross-sectional cohort study, medical records of all patients referred for evaluation of a platelet function disorder were screened for an underlying diagnosis of SPD during the period 2010–2020. Results: Sixty-eight patients were identified, among whom 62 (91.2%) had a platelet function assay (PFA) study, of whom 21 (33.9%) were abnormal. Clinical, laboratory, and light transmission aggregometry (LTA) suggested that 10 (14.7%) patients had SPD; five had gray platelet syndrome (GPS), three had Hermansky Pudlak syndrome (HPS), and two had Chedia-Higashi syndrome (CHS). Most of these cases presented with mucocutaneous bleeding diathesis, but a few had oculocutaneous albinism. They were associated with variable abnormalities in the PFA and LTA studies. However, EM studies using TEM showed a reduction/absence of alpha or delta granules in GPS and HPS patients, respectively, but no abnormality in the granules of CHS patients. Conclusions: Although patients with SPD presented with bleeding diathesis, PFA and platelet aggregation studies were inconclusive. Abnormalities in platelet ultrastructure on EM studies demonstrated corroborative evidence for SPD with absent/reduced alpha or delta granules.

Keywords

• Storage pool disease
• SPD
• Electron microscope
• TEM
• Gray platelet syndrome