Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada.
Blood Rev. 2011 Jul;25(4):169-73. doi: 10.1016/j.blre.2011.03.004. Epub 2011 Apr 16.
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.
血小板功能障碍是一种遗传性和获得性疾病，是常见的出血原因。其临床表现通常与血管性血友病相似。由于其特征存在异质性、发病机制和遗传原因不确定、诊断实验室中评估血小板功能的程序存在差异以及缺乏诊断标准，因此通常难以诊断常见的血小板功能障碍。一些遗传性血小板功能障碍已被确定会增加出血和出血评分的风险。然而，出血史评估工具尚未经过验证可用于诊断血小板功能障碍。除了一些罕见情况外，评估聚集功能、致密颗粒缺乏和致密颗粒分泌的标准化测试对于诊断常见的血小板功能障碍很有用。已经出现了指南来改善和标准化诊断血小板功能障碍的实验室测试，包括如何解释聚集测定结果。尽管如此，仍需要进一步评估许多血小板功能障碍的特征、发病机制和遗传原因，包括影响颗粒分泌的遗传性疾病。
