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Inherited platelet function disorders: overview and disorders of granules, secretion, and signal transduction

A Koneti Rao1

  • 1Hematology Section, Department of Medicine and Sol Sherry Thrombosis Research Center, Temple University School of Medicine, Philadelphia, PA 19140, USA. koneti@temple.edu

Hematology/Oncology Clinics of North America
|May 30, 2013
PubMed

Inherited disorders of platelet function are characterized by highly variable mucocutaneous bleeding manifestations. The platelet dysfunction arises by diverse mechanisms, including abnormalities in platelet membrane glycoproteins, granules and their contents, platelet signaling and secretion mechanisms: thromboxane production pathways and in platelet procoagulant activities. Platelet aggregation and secretion studies using platelet-rich plasma currently form the primary basis for the diagnosis of an inherited platelet dysfunction. In most such patients, the molecular and genetic mechanisms are unknown. Management of these patients needs to be individualized; therapeutic options include platelet transfusions, 1-desamino-8d-arginine vasopressin (DDAVP), recombinant factor VIIa, and antifibrinolytic agents.

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