Bowman M L, James P D
Department of Medicine, Queen's University, Kingston, ON, Canada.
Department of Pathology and Molecular Medicine, Queen's University, Kingston, ON, Canada.
Int J Lab Hematol. 2017 May;39 Suppl 1:61-68. doi: 10.1111/ijlh.12653.
von Willebrand disease (VWD) is the most common bleeding disorder. Type 1 VWD represents the majority of cases and results from a partial quantitative deficiency of von Willebrand factor (VWF). The diagnosis of Type 1 VWD presents many challenges, despite there being three established diagnostic criteria: a personal history of mucocutaneous bleeding, a family history and low VWF levels. These criteria do not always coexist, and there is great overlap of clinical phenotypes and laboratory parameters between healthy individuals and those with VWD. Mild bleeding symptoms can have any number of causes and bleeding is commonly reported in the general population. VWF levels do not always correlate with bleeding symptoms and can be variable between affected family members. Additionally, VWF levels vary widely as a result of both genetic and non-genetic influences. Perhaps the greatest current controversy in the diagnosis of Type 1 VWD is that there is no consensus laboratory cut-off for the diagnosis, raising concern about both over- and under-diagnosis. Ongoing studies are addressing these issues by clarifying the underlying pathogenesis of the disease, as well as the natural history and the risk of future bleeding in those with the diagnosis.
血管性血友病（VWD）是最常见的出血性疾病。1型VWD占大多数病例，是由血管性血友病因子（VWF）部分定量缺乏所致。尽管有三项既定的诊断标准：黏膜皮肤出血的个人史、家族史和低VWF水平，但1型VWD的诊断仍面临许多挑战。这些标准并不总是同时存在，健康个体与VWD患者之间的临床表型和实验室参数存在很大重叠。轻度出血症状可能有多种原因，而且一般人群中普遍报告有出血情况。VWF水平并不总是与出血症状相关，且在受影响的家庭成员之间可能存在差异。此外，由于遗传和非遗传影响，VWF水平差异很大。目前1型VWD诊断中最大的争议可能在于，对于诊断没有达成共识的实验室临界值，这引发了对过度诊断和诊断不足的担忧。正在进行的研究通过阐明该疾病的潜在发病机制以及确诊者的自然病史和未来出血风险来解决这些问题。
