Batlle J, Torea J, Rendal E, Fernández M F
Servicio de Hematología y Hemoterapia, Hospital Juan Canalejo-Teresa Herrera, La Coruña, Spain.
J Intern Med Suppl. 1997;740:121-8.
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.
血管性血友病(vWD)的诊断,尤其是1型血管性血友病,在多个方面仍是一个临床难题。其明确诊断需要记录三个因素:出血、定性正常的血管性血友病因子(vWF)水平降低以及遗传情况。若缺乏这些因素中的任何一个,诊断可能仅仅是“可能”,甚至是不可接受的。vWD的实验室诊断包括筛查试验和确诊试验。2型和3型血管性血友病相对容易诊断,似乎是由单个基因座即vWF基因引起的遗传性疾病。随着新的遗传因素以及可能的非遗传因素被发现,1型血管性血友病的诊断可能会变得更容易。