Walter S, Stabler S, Lefkowitz J B
Department of Pathology, University of Colorado Health Sciences Center, CO 80045, USA.
Haemophilia. 2006 Jul;12(4):393-7. doi: 10.1111/j.1365-2516.2006.01300.x.
This paper reports a new dysfibrinogenemia with an unusual pattern of laboratory assays. The patient, a 51-year-old female with a lifelong moderate bleeding history, was initially diagnosed with von Willebrand disease based on routine coagulation assays and the clinical bleeding presentation. During recent testing as part of a preoperative screen and without any current history of treatment, levels of von Willebrand factor (VWF) antigen, VWF activity, and factor VIII activity were all significantly elevated, which was unexpected given her previous diagnosis. Additional testing was performed looking for other heritable causes for her considerable bleeding tendency. Interestingly, the patient had a significantly prolonged Reptilase time, minimally short thrombin time, and an abnormal fibrinogen-crossed immunoelectrophoresis pattern. Clearly, this patient had a fibrinogen abnormality that had been missed when only routine coagulation screening assays were performed. A brief review of the fibrinogen literature revealed no other dysfibrinogenemias reported with a similar pattern of test results, and thus this defect was designated fibrinogen Denver.
本文报道了一种新型异常纤维蛋白原血症,其实验室检测结果呈现出不同寻常的模式。该患者为一名51岁女性,有终生中度出血史,最初根据常规凝血检测及临床出血表现被诊断为血管性血友病。在近期作为术前筛查的检测中,且无任何当前治疗史的情况下,血管性血友病因子(VWF)抗原、VWF活性及因子VIII活性水平均显著升高,鉴于其先前的诊断,这一结果出乎意料。为寻找其显著出血倾向的其他遗传原因,进行了额外检测。有趣的是,该患者的爬虫酶时间显著延长,凝血酶时间轻度缩短,且纤维蛋白原交叉免疫电泳模式异常。显然,仅进行常规凝血筛查检测时,该患者存在的纤维蛋白原异常被漏诊了。对纤维蛋白原文献的简要回顾显示,未见其他具有类似检测结果模式的异常纤维蛋白原血症报道,因此这种缺陷被命名为丹佛纤维蛋白原。