Diagnostic evaluation of platelet function disorders

Abstract

Platelet function disorders are inherited and acquired conditions that represent a common cause of bleeding. Their clinical findings are generally similar to von Willebrand disease. It is often challenging to diagnose common platelet function disorders due to heterogeneity in their features, uncertainties about their pathogenesis and genetic cause, variability in the procedures used to assess platelet function in diagnostic laboratories and the lack of diagnostic criterion. Some inherited platelet function disorders have been established to increase risks for bleeding and bleeding scores. However, bleeding history assessment tools are not validated for use in diagnosing platelet function disorders. Standardized tests that assess aggregation function, dense granule deficiency and dense granule secretion are useful for diagnosing common platelet function disorders, in addition to some rare conditions. Guidelines have emerged to improve and standardize the laboratory tests for diagnosing platelet function disorders, including how to interpret aggregometry findings. Nonetheless, there is need to further evaluate the features, pathogenesis and genetic cause of many platelet function disorders, including the inherited conditions that impair granule secretion.