Abstract：
von Willebrand disease (VWD) is the most common inherited bleeding disorder. The disorder is characterized by excessive mucocutaneous bleeding. The most common bleeding manifestations of this condition include nosebleeds, bruising, bleeding from minor wounds, menorrhagia or postpartum bleeding in women as well as bleeding after surgery. Other less frequent symptoms include gastrointestinal bleeding, haematomas or haemarthroses. VWD pathophysiology is complex and results from defects in von Willebrand factor (VWF) glycoprotein. Quantitative deficiencies are responsible for type 1 VWD with a partial decrease of VWF and type 3 with the complete absence of VWF. Qualitative abnormalities cause type 2 VWD, being further divided into types 2A, 2B, 2M and 2N. Although common, VWD is at risk of misdiagnosis, overdiagnosis and underdiagnosis owing to several factors, including complex diagnosis, variability of bleeding symptoms, presence of external variables (blood groups and other physiological modifiers such as exercise, thyroid hormones, oestrogens, and ageing), and lack of disease awareness among non-specialist health-care providers. Establishing the correct VWD diagnosis requires an array of specialized phenotypic assays and/or molecular genetic testing of the VWF gene. The management of bleeding includes increasing endogenous VWF levels with desmopressin or infusion of exogenous VWF concentrates (plasma-derived or recombinant). Fibrinolytic inhibitors, topical haemostatic agents and hormonal therapies are used as effective adjunctive measures.
摘要：
血管性血友病（VWD）是最常见的遗传性出血性疾病。该疾病的特征是皮肤粘膜过度出血。这种情况最常见的出血表现包括流鼻血，瘀伤,轻微伤口出血,妇女的月经过多或产后出血以及手术后出血。其他不太常见的症状包括胃肠道出血，血肿或关节积血。VWD病理生理学是复杂的，是由于血管性血友病因子（VWF）糖蛋白的缺陷所致。定量缺陷是1型VWD的部分VWF降低和3型VWF完全缺失的原因。定性异常导致2型VWD，进一步分为2A型，2B,2M和2N。虽然普通,VWD有误诊的危险,由于几个因素的过度诊断和诊断不足，包括复杂的诊断，出血症状的变异性，存在外部变量(血型和其他生理修饰，如运动，甲状腺激素,雌激素,和老化)，以及非专业医疗保健提供者缺乏疾病意识。建立正确的VWD诊断需要一系列专门的表型测定和/或VWF基因的分子遗传测试。出血的管理包括用去氨加压素增加内源性VWF水平或输注外源性VWF浓缩物(血浆来源的或重组的)。纤溶抑制剂，局部止血剂和激素治疗被用作有效的辅助措施。
