Platelet function in non-syndromic δ-storage pool disease

Introduction δ-storage pool disease (δ-SPD) is a common platelet disorder caused by a quantitative or qualitative defect of δ-granules, resulting in decreased/absent δ-granule release of platelet feedback agonists. Non-syndromic δ-SPD is frequently associated with mild-to-moderate bleeding diathesis, and may occur with life-threatening bleeding complications after surgery. The routinely used platelet function analyzer (PFA) and light transmission aggregometry (LTA) lack diagnostic specificity and sensitivity, and causative mutations only affecting the megakaryocyte lineage, are not known yet [ 1 ] [ 2 ]. Therefore, the prevalence of non-syndromic δ-SPD is possibly underestimated, and additional alterations of platelet function associated with impaired δ-granule exocytosis are less known. In our routinely specialized diagnostics for platelet disorders, we aimed to further phenotype platelets from patients with non-syndromic δ-SPD. Method Adult patients with a suspected platelet disorder and no evidence of von Willebrand disease were recruited from our outpatient clinic for hemostatic disorders. Patients with pregnancy, syndromic disorders, coagulopathy, surgery and non-steroidal anti-inflammatory drug intake (