Beltrame Miriam P, Malvezzi M, Zanis J, Pasquini R
Department of Haematology, Federal University of Parana, Curitiba-PR, Brazil.
Platelets. 2009 Jun;20(4):229-34. doi: 10.1080/09537100902893784.
Bernard-Soulier Syndrome (BSS) is an inherited recessive bleeding disorder. In some instances, diagnosis might be restricted to routine blood exams, including bleeding time, prothrombin time (PT), and partial thromboplastin time (APTT). Exams such as platelet aggregation, and testing for expression of ristocetin cofactor, or von Willebrand factor may not be commonly performed. This leads to misdiagnosis in a number of patients, which are subsequently treated erroneously. Flow cytometry has been used widely as a tool in the diagnosis of leukemias, lymphomas, and many other immuno-hematological diseases. The purpose of this study was to assess whether flow cytometry could be helpful in the diagnosis of Bernard-Soulier Syndrome in Brazilian patients. For this, we examined a selected group of 15 patients with suspected BSS based on classical diagnosis. We used a panel of antibodies to detect the expression of glycoproteins GPIbalpha, GPIIb, GPIIIa, GPIX, as well as CD9. Abnormalities of GPIb and GPIX were observed in nine of the 15 patients, which included severe reduction of both antigens, of one or the other, or normal levels but weak expression. Strikingly, this abnormality correlated with severely reduced expression of CD9 in all cases. We discuss the implications for flow cytometric diagnosis of BSS.
伯纳德-索利尔综合征（BSS）是一种遗传性隐性出血性疾病。在某些情况下，诊断可能仅限于常规血液检查，包括出血时间、凝血酶原时间（PT）和部分凝血活酶时间（APTT）。血小板聚集以及瑞斯托菌素辅因子或血管性血友病因子表达检测等检查可能并不常用。这导致许多患者被误诊，随后接受了错误的治疗。流式细胞术已被广泛用作诊断白血病、淋巴瘤和许多其他免疫血液学疾病的工具。本研究的目的是评估流式细胞术是否有助于诊断巴西患者的伯纳德-索利尔综合征。为此，我们检查了一组根据经典诊断疑似患有BSS的15名患者。我们使用一组抗体来检测糖蛋白GPIbalpha、GPIIb、GPIIIa、GPIX以及CD9的表达。在15名患者中的9名患者中观察到GPIb和GPIX异常，包括两种抗原的严重减少、其中一种抗原的减少或水平正常但表达较弱。令人惊讶的是，在所有病例中，这种异常都与CD9的严重减少表达相关。我们讨论了流式细胞术诊断BSS的意义。
