Laboratory diagnosis of inherited platelet function disorders

Abstract

Platelets respond to vessel wall injury by forming a primary hemostatic plug to arrest blood loss. Hemostatic plug formation is complex, and involves platelet adhesion to the subendothelium that results in platelet activation and ultimately, aggregation. If any of these processes are deficient, primary hemostasis is impaired. Inherited platelet function disorders (IPFDs) are a heterogeneous group of defects in these processes, with patients experiencing mainly mucocutaneous bleeding symptoms that can range from very mild to life threatening, depending on the specific disorder. Here, we review the approach to an initial patient assessment required to inform laboratory testing, and the frequently used clinical laboratory assays for diagnostic evaluation of IPFDs. Newer testing approaches that may improve laboratory diagnosis in the near future are described.

Keywords: Diagnosis; Inherited platelet function disorders; Platelet aggregation; Platelet electron microscopy; Platelet flow cytometry.