Gengenbacher D, Tsakiris D A, Tichelli A, Marbet G A, Gratwohl A, Speck B
Departement Innere Medizin, Universitätskliniken, Kantonsspital Basel.
Schweiz Med Wochenschr. 1996 Oct 26;126(43):1834-41.
We present 5 cases with thrombocytopenia and abnormal platelet function. The diagnosis of Bernard-Soulier syndrome was suspected in some subjects of advanced age on the ground of morphologic changes in the thrombocytes and of low platelet counts with or without prolonged bleeding time. The platelets showed normal aggregation with adrenalin, ADP and collagen but abnormal agglutination with ristocetine. All patients had normal von Willebrand factor levels in plasma. Flow cytometry demonstrated on thrombocytes lack of GP Ib expression of varying degree in comparison to normal controls, using various anti-GP Ib-antibodies (CD42b). The combination of these findings confirmed the diagnosis of Bernard-Soulier syndrome with varying expression of GP Ib. Flow cytometry and the use of specific monoclonal antibodies may be a rapid and reliable diagnostic tool. Differential diagnosis and treatment strategies are discussed. A congenital thrombopathy should always be considered in patients with thrombocytopenia of unknown origin and abnormal platelet morphology.
我们报告了5例血小板减少和血小板功能异常的病例。部分老年患者因血小板形态改变以及血小板计数低伴或不伴出血时间延长，怀疑为伯-苏综合征。血小板对肾上腺素、二磷酸腺苷（ADP）和胶原的聚集反应正常，但对瑞斯托霉素的凝集反应异常。所有患者血浆中血管性血友病因子水平正常。流式细胞术使用各种抗糖蛋白（GP）Ib抗体（CD42b）检测血小板，结果显示与正常对照相比，患者血小板存在不同程度的GP Ib表达缺失。这些发现相结合，证实了存在不同GP Ib表达形式的伯-苏综合征的诊断。流式细胞术和使用特异性单克隆抗体可能是一种快速且可靠的诊断工具。文中讨论了鉴别诊断和治疗策略。对于不明原因血小板减少且血小板形态异常的患者，应始终考虑先天性血小板病。
