Castella A, Miller J L, Neuberg R W, Gawryl M S, Hoyer L W
Am J Clin Pathol. 1983 Nov;80(5):745-9. doi: 10.1093/ajcp/80.5.745.
Platelet-type von Willebrand's disease is a recently described autosomal dominant bleeding disorder characterized by decreased ristocetin cofactor activity, lack of the higher molecular weight von Willebrand Factor (vWF) multimers on SDS agarose gel electrophoresis, increased platelet aggregation with low concentrations of ristocetin, and increased ristocetin-induced binding of normal vWF to patient platelets. In this report the authors describe a 17-month-old male with Platelet-type von Willebrand's disease, inherited from the paternal side of his family, who developed an inhibitor specific to Factor VIII:C. The patient's plasma inhibited normal plasma VIII:C and partially purified VIII:C; it did not appear directed against normal VIIIR:Ag or ristocetin cofactor. This antibody is therefore similar to inhibitors that develop in some transfused hemophilia A patients. Since low VIII:C, VIII:CAg, and VIII:C/VIIIR:Ag ratio were encountered in his mother, it is likely that this patient has inherited hemophilia A in addition to Platelet-type von Willebrand's disease.
血小板型血管性血友病是一种最近被描述的常染色体显性遗传性出血性疾病，其特征为瑞斯托霉素辅因子活性降低、在十二烷基硫酸钠琼脂糖凝胶电泳上缺乏高分子量血管性血友病因子（vWF）多聚体、低浓度瑞斯托霉素时血小板聚集增加以及瑞斯托霉素诱导的正常vWF与患者血小板的结合增加。在本报告中，作者描述了一名17个月大的男性，患有从其家族父系遗传而来的血小板型血管性血友病，他产生了一种特异性针对因子VIII:C的抑制剂。患者的血浆抑制正常血浆VIII:C和部分纯化的VIII:C；它似乎并非针对正常的VIIIR:Ag或瑞斯托霉素辅因子。因此，这种抗体类似于一些接受输血的甲型血友病患者所产生的抑制剂。由于在其母亲身上发现了低水平的VIII:C、VIII:CAg以及VIII:C/VIIIR:Ag比值，该患者除了患有血小板型血管性血友病外，很可能还遗传了甲型血友病。
