The problem of diagnosing von Willebrand's disease.

J Batlle, J Torea, E Rendal, M F Fernández
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引用次数: 0

Abstract

Diagnosis of von Willebrand's disease (vWD), particularly vWD Type 1, remains a clinical problem for several aspects. Its definitive diagnosis requires documentation of three factors: bleeding, low levels of qualitatively normal von Willebrand factor (vWF), and inheritance. In the absence of any of these factors the diagnosis may be only merely 'possible', or even unacceptable. Laboratory diagnosis of vWD includes screening tests and confirmatory tests. vWD Types 2 and 3 are relatively easy to diagnose and appear to be genetic disease of a single locus, the vWF gene. As new genetic and possibly non-genetic factors are discovered, the diagnosis of vWD Type 1 may become easier.

诊断血管性血友病的问题。
血管性血友病(vWD)的诊断,特别是1型血管性血友病的诊断,在几个方面仍然是一个临床问题。其明确诊断需要三个因素的文件:出血,低水平的定性正常血管性血友病因子(vWF)和遗传。在没有这些因素的情况下,诊断可能只是“可能的”,甚至是不可接受的。vWD的实验室诊断包括筛选试验和确认试验。vWD 2型和3型相对容易诊断,似乎是单一位点vWF基因的遗传性疾病。随着新的遗传因素和可能的非遗传因素的发现,vWD 1型的诊断可能变得更加容易。
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