In the majority of patients with an inherited abnormality in platelet function and a bleeding
diathesis, the underlying platelet molecular mechanisms are unknown. The usually
considered entities, such as thrombasthenia, the Bernard-Soulier syndrome, and storage
pool deficiency, occur in a small proportion of patients. A substantial number of patients
present with decreased aggregation and secretion of dense granule contents upon
activation, and are lumped in the category of primary secretion defects or platelet activation …

Patients with an inherited bleeding disorder and abnormalities in the routinely performed
platelet aggregation studies are not uncommonly encountered in clinical practice. However,
in the vast majority of these patients, the underlying molecular mechanisms leading to the
platelet dysfunction are unknown. The best recognized entities such as thrombasthenia,
BernardąSoulier Syndrome, and the dense granule storage pool deficiency have provided
unparalleled insights in platelet physiology, but are distinctly uncommon. Evidence has …