What to do when you suspect an inherited platelet disorder

Abstract

Inherited platelet disorders (IPDs) comprise a heterogenous group of diseases that include defects in platelet function and disordered megakaryopoiesis. Some IPDs overlap as both defects in function and thrombopoiesis, resulting in both altered aggregation and/or secretion and thrombocytopenia. This review examines the key features of the presentation of IPDs in children and adults and presents a diagnostic algorithm for the evaluation of these patients. In addition, recent advances in our understanding of the pathophysiology of platelet disorders are addressed, with attention given to some of the novel genetic associations. Finally, treatment options and future therapies are briefly discussed.