Platelet function disorders

Platelets play an important role in thrombosis and hemostasis. Moreover, platelet dysfunction due to congenital and acquired etiologies is also one of the most common causes of bleeding encountered in clinical practice. Mostly, platelet function disorders are deficiencies of glycoprotein mediators of adhesion and aggregation, whereas defects of primary receptors for stimuli include those of the P2Y12 ADP receptor. Studies on inherited defects of (1) secretion for storage organelles (dense and alpha-granules), (2) the platelet cytoskeleton, and (3) the generation of pro-coagulant activity have allowed for the identification of genes directly and/or indirectly controlling specific functional responses. This chapter will review recent advances in the molecular characterization of platelet function defects, the spectrum of clinical manifestations of these disorders and their management.