Roberts J C, Flood V H
Bleeding & Clotting Disorders Institute, Peoria, IL, USA.
Division of Hematology/Oncology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.
Int J Lab Hematol. 2015 May;37 Suppl 1(Suppl 1):11-7. doi: 10.1111/ijlh.12345.
Von Willebrand disease (VWD) is considered the most common inherited bleeding disorder and may also be the most difficult to diagnose. Clinical symptoms of VWD include predominantly mild mucosal bleeding; surgical bleeding may occur with specific challenges and joint bleeding can occur in the most severe forms. A family history either of diagnosed VWD or of bleeding symptoms is typically present. Laboratory diagnosis requires a series of assays of von Willebrand factor (VWF) quantity and function, and factor VIII activity, with no single straightforward diagnostic test available to either confirm or exclude the diagnosis. Newer assays of VWF function are becoming more available and useful in determining the laboratory diagnosis of VWD.
血管性血友病（VWD）被认为是最常见的遗传性出血性疾病，也可能是最难诊断的疾病。VWD的临床症状主要包括轻度黏膜出血；在特定情况下可能会出现手术出血，最严重的形式会出现关节出血。通常存在确诊VWD或出血症状的家族史。实验室诊断需要一系列检测血管性血友病因子（VWF）数量和功能以及因子VIII活性的试验，没有单一直接的诊断测试可用于确诊或排除诊断。VWF功能的新检测方法在确定VWD的实验室诊断方面越来越容易获得且有用。
