Tosetto A, Castaman G, Rodeghiero F
Hematology Department, S. Bortolo Hospital, Vicenza, Italy.
Haemophilia. 2008 May;14(3):415-22. doi: 10.1111/j.1365-2516.2007.01648.x. Epub 2008 Jan 21.
The diagnosis of bleeding disorders is strictly dependent on the presence of bleeding symptoms in the patient, but collection of the bleeding history and its interpretation still remains subjective. For this reason, questionnaires on bleeding history have been proposed, and validated as diagnostic tools by comparing data obtained from patients with normal controls. This effort had led, at least with respect to von Willebrand disease (VWD), to the establishment of criteria that allow discrimination of VWD carriers from normal subjects. Among the possible criteria, a promising one is represented by the bleeding score (BS), a quantitative index summarizing both the number of episodes and their severity. The BS has shown good sensitivity and specificity for the diagnosis of type 1 VWD and could be integrated in a full diagnostic algorithm that also accounts for laboratory and family data. Furthermore, the BS has been shown to be correlated with several biological variables, including VWF and FVIII:C levels, platelet function analyzer (PFA-100) closure times, and platelet glycoprotein haplotypes. Thus, collection of the BS at the time of the diagnosis may be a useful addition in the evaluation of the bleeding patients for both the researcher and medical practitioner, although the latter should probably wait for the results of further validation studies before making more extensive use of BS as a diagnostic tool.
出血性疾病的诊断严格依赖于患者出血症状的存在，但出血病史的收集及其解读仍然具有主观性。因此，有人提出了关于出血病史的问卷，并通过将患者数据与正常对照者的数据进行比较，验证其作为诊断工具的有效性。至少就血管性血友病（VWD）而言，这一努力导致了能够区分VWD携带者与正常受试者的标准的建立。在可能的标准中，一个有前景的标准是出血评分（BS），这是一个综合发作次数及其严重程度的定量指标。BS对1型VWD的诊断显示出良好的敏感性和特异性，并且可以纳入一个完整的诊断算法中，该算法还考虑实验室和家族数据。此外，BS已被证明与几个生物学变量相关，包括血管性血友病因子（VWF）和凝血因子VIII：C水平、血小板功能分析仪（PFA-100）的封闭时间以及血小板糖蛋白单倍型。因此，在诊断时收集BS对于研究人员和医生评估出血患者可能是一个有用的补充，尽管后者在更广泛地将BS用作诊断工具之前，可能应该等待进一步验证研究的结果。
