Arkel Y S, Desposito F
Am J Pediatr Hematol Oncol. 1982 Fall;4(3):249-57.
A girl with clinical and laboratory findings of severe Von Willebrand's disease (VWD) characterized by a prolonged bleeding time, marked reduction of both Factor VIII procoagulant activity and Factor VIII related antigen with an abnormal crossed immunoelectrophoretic factor VIII molecule (CIEP) is presented. Persistent thrombocytopenia and abnormal platelet function manifested during platelet aggregation with epinephrine, ADP and collagen and abnormal C14 serotonin and platelet factor 4 release were also noted. Family studies reveal both parents and a paternal aunt with low normal VWD parameters and normal immunoelectrophoretic factor VIII molecules. A sister has mild classical VWD. Both the father and paternal aunt have normal platelet counts but manifest a similar platelet functional defect. These findings suggest that our patient is homozygous for VWD and has inherited the platelet functional defect through the paternal side of the family. The addition of CIEP techniques may allow for further genetic clarification of the Von Willebrand syndromes; specifically, delineating the severe, homozygous Von Willebrand patient from the more common classical heterozygous patient and from the heterogeneous group of VWD patients with structural defects of the VWD factor. The genetic implications and the interaction of thrombocytopenia and abnormal platelet function in VWD are discussed.
本文介绍了一名患有严重血管性血友病（VWD）的女孩，其临床和实验室检查结果显示出血时间延长、凝血因子VIII促凝活性和凝血因子VIII相关抗原显著降低，交叉免疫电泳因子VIII分子（CIEP）异常。还注意到持续的血小板减少以及血小板与肾上腺素、ADP和胶原聚集时表现出的异常血小板功能，以及异常的C14血清素和血小板因子4释放。家族研究显示，父母和一位姑姑的VWD参数略低于正常水平，免疫电泳因子VIII分子正常。一个姐妹患有轻度典型VWD。父亲和姑姑的血小板计数正常，但表现出类似的血小板功能缺陷。这些发现表明，我们的患者为VWD纯合子，并且通过家族父系遗传了血小板功能缺陷。CIEP技术的应用可能有助于对血管性血友病综合征进行进一步的基因分类；具体而言，可将严重的纯合子血管性血友病患者与更常见的典型杂合子患者以及具有VWD因子结构缺陷的异质性VWD患者群体区分开来。本文还讨论了VWD中血小板减少和异常血小板功能的遗传意义及相互作用。
