Perez Botero Juliana, Warad Deepti M, He Rong, Uhl Cindy B, Tian Shulan, Otteson Gregory E, Barness Ryan L, Olson Mary C, Gossman Susan C, Charlesworth Jon E, Nichols William L, Pruthi Rajiv K, Chen Dong
Division of Hematology.
Special Coagulation Laboratory, Division of Hematopathology.
Am J Clin Pathol. 2017 Jul 1;148(1):23-32. doi: 10.1093/ajcp/aqx038.
Patients with hereditary/congenital platelet disorders (HPDs) have a broad range of clinical manifestations and laboratory phenotypes. We assessed the performance characteristics of the International Society on Thrombosis and Haemostasis bleeding assessment tool (ISTH-BAT) and clinically validated platelet laboratory tests for diagnosis of HPDs.
The records of 61 patients with suspected HPDs were reviewed and ISTH-BAT scores calculated.
Nineteen (31%) patients had thrombocytopenia, and 46 (75%) had positive ISTH-BAT scores. Thirteen and 17 patients had prolonged PFA-100 (Dade Behring, Miami, FL) adenosine diphosphate and epinephrine closure times, respectively. Twenty-two had abnormal platelet light transmission aggregation. Twenty-four had platelet transmission electron microscopy (PTEM) abnormalities (10 dense granule deficiency, 14 other ultrastructural abnormalities). Positive ISTH-BAT scores were associated with thrombocytopenia (P < .0001) and abnormal PTEM (P = .002). Twenty-three patients had normal results.
ISTH-BAT identified patients with suspected HPDs but lacked a robust association with laboratory abnormalities. Despite comprehensive laboratory testing, some patients may have normal results.
遗传性/先天性血小板疾病（HPDs）患者具有广泛的临床表现和实验室表型。我们评估了国际血栓与止血学会出血评估工具（ISTH-BAT）以及经过临床验证的血小板实验室检测方法在诊断HPDs方面的性能特征。
回顾了61例疑似HPDs患者的记录，并计算ISTH-BAT评分。
19例（31%）患者有血小板减少症，46例（75%）患者ISTH-BAT评分呈阳性。分别有13例和17例患者的PFA-100（Dade Behring公司，佛罗里达州迈阿密）二磷酸腺苷和肾上腺素封闭时间延长。22例患者血小板光透射聚集异常。24例患者血小板透射电子显微镜（PTEM）检查有异常（10例致密颗粒缺乏，14例其他超微结构异常）。ISTH-BAT评分阳性与血小板减少症（P <.0001）和PTEM异常（P =.002）相关。23例患者结果正常。
ISTH-BAT可识别疑似HPDs患者，但与实验室异常缺乏紧密关联。尽管进行了全面的实验室检测，仍有部分患者结果可能正常。
