Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Department of Internal Medicine and Medical Specialties, IRCCS Maggiore Hospital, and University of Milan, Milan, Italy.
Thromb Res. 2009 Nov;124 Suppl 1:S2-6. doi: 10.1016/S0049-3848(09)70150-1.
Von Willebrand disease (VWD) is the most common inherited bleeding disorder and is caused by quantitative or qualitative deficiencies in von Willebrand factor (VWF). Diagnosis relies on clinical characteristics, such as bleeding symptoms and a family history of bleeding symptoms, and laboratory tests confirming reduced levels or activity of VWF. Several types of VWD have been identified that have distinct pathology, phenotype, and response to therapy. No single test provides sufficient information to classify the disorder, and multiple assays are needed. These assays can determine whether bleeding is caused by quantitative (types 1 and 3) or qualitative (type 2) deficiency in VWF activity. The presence or absence of high-molecular weight multimers of VWF can distinguish between types 2M and 2A VWD, respectively. Higher affinity for platelet glycoprotein Iba receptors suggests type 2B, and poor affinity for factor VIII indicates type 2N VWD. Other tests, including molecular diagnostic techniques, may be used to confirm the diagnosis. Despite the apparent complexity surrounding the classification of VWD, accurate classification is achievable using the appropriate combination of laboratory assessments. Correct classification is essential to the management of patients with VWD because therapeutic decisions often depend on the specific type of disease.
血管性血友病（VWD）是最常见的遗传性出血性疾病，由血管性血友病因子（VWF）的数量或质量缺乏引起。诊断依赖于临床特征，如出血症状和家族出血症状史，以及实验室检查证实 VWF 水平或活性降低。已经确定了几种类型的 VWD，它们具有不同的病理学、表型和治疗反应。没有单一的测试可以提供足够的信息来对疾病进行分类，需要进行多种检测。这些检测可以确定出血是由 VWF 活性的数量（1 型和 3 型）还是质量（2 型）缺陷引起的。VWF 高分子量多聚体的存在与否可以分别区分 2M 和 2A 型 VWD。对血小板糖蛋白 Ib 受体的更高亲和力提示 2B 型，对因子 VIII 的亲和力差则提示 2N 型 VWD。其他测试，包括分子诊断技术，可用于确认诊断。尽管 VWD 的分类似乎很复杂，但使用适当的实验室评估组合可以实现准确的分类。正确的分类对于 VWD 患者的管理至关重要，因为治疗决策通常取决于疾病的具体类型。
