Kelsey H, Christopoulos C, Gray A A, Machin S J
Department of Haematology, University College, London.
J Clin Pathol. 1994 Feb;47(2):162-5. doi: 10.1136/jcp.47.2.162.
To investigate the abnormality in platelet function in two patients with type I Gaucher's disease causing a chronic bleeding tendency despite normalisation of the platelet count after spleen removal.
Routine laboratory methods were used to assess baseline coagulation. Platelet aggregometry was used to assess platelet responses to a range of agonists, and abnormalities were further assessed in mixing experiments using washed platelets and patients' plasma.
Platelets from both patients with Gaucher's disease failed to agglutinate to ristocetin, despite normal platelet surface glycoprotein (GP) Ib and plasma von Willebrand factor activity. The agglutination of normal washed platelets was abolished by incubation in patient plasma. The inhibitory activity did not lie in the IgG fraction of patient plasma, and was found to be loosely associated with the patient platelet surface.
The inhibition of ristocetin induced platelet agglutination in patients with Gaucher's disease causes a prolonged skin bleeding time. This could be due to the accumulated glucocerebroside in the plasma coating the platelet membrane. It is suggested that the term pseudo-pseudo Bernard-Soulier syndrome would be appropriate, as on initial screening, the abnormality has the features of Bernard-Soulier syndrome, but further investigation shows normal plasma von Willebrand activity and platelet surface GP Ib concentrations. The inhibitory activity is not due to a platelet specific antibody as is the case in pseudo-Bernard Soulier syndrome.
研究两例I型戈谢病患者的血小板功能异常情况，尽管脾切除术后血小板计数已恢复正常，但仍存在慢性出血倾向。
采用常规实验室方法评估基线凝血情况。使用血小板凝集试验评估血小板对一系列激动剂的反应，并通过使用洗涤血小板和患者血浆的混合实验进一步评估异常情况。
尽管血小板表面糖蛋白（GP）Ib正常且血浆血管性血友病因子活性正常，但两名戈谢病患者的血小板均未对瑞斯托霉素发生凝集。正常洗涤血小板在患者血浆中孵育后凝集被消除。抑制活性并不存在于患者血浆的IgG部分，而是发现与患者血小板表面松散结合。
戈谢病患者中瑞斯托霉素诱导的血小板凝集受到抑制导致皮肤出血时间延长。这可能是由于血浆中积累的葡糖脑苷脂覆盖了血小板膜。建议使用“假性类伯纳德-苏利耶综合征”这一术语，因为在初步筛查时，该异常具有伯纳德-苏利耶综合征的特征，但进一步研究显示血浆血管性血友病活性和血小板表面GP Ib浓度正常。抑制活性并非如假性伯纳德-苏利耶综合征那样由血小板特异性抗体引起。
