Von Willebrand factor and von Willebrand disease.
Von Willebrand factor and von Willebrand disease.
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DOI：
10.1046/j.1468-0734.2001.00048.x
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发表时间：
2001-12-01
期刊：
影响因子：
--
通讯作者：
Schneppenheim, R
中科院分区：
文献类型：
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作者：
Budde, U;Schneppenheim, R
Von Willebrand病(VWD)是由于von Willebrand因子(VWF)的数量和/或质量缺陷引起的，vWF是一种多聚体大分子糖蛋白。通常，它会影响主要止血系统，导致皮肤粘膜出血倾向，类似于血小板功能缺陷。VWF通过两种方式促进其功能：(I)在高剪切力条件下启动血小板与受损血管壁的黏附；(Ii)通过其对血浆中第VIII因子的载体作用。通过积累不同临床表型和疾病的病理生理学基础的知识，转化为通过定量和功能参数区分定量和定性缺陷的分类，并通过分析vWF多聚体的电泳模式。分子技术的出现为进行基因-表型研究提供了机会，这些研究不仅有助于阐明或确认vWF的重要功能及其在翻译后加工中的步骤，而且还有助于许多致病缺陷的研究。获得性血管性血友病综合征(AvWS)近年来受到越来越多的关注。2000年，国际血栓和止血学会科学和标准化委员会发表了一份国际登记册和建议。它的结论是，avWS虽然不是一种常见疾病，但可能被低估了。这一点应该在未来的前瞻性研究中加以解决。治疗的目的是纠正患者受损的止血系统，理想情况下包括一次止血和二次止血的缺陷。去氨加压素是大约70%的患者的首选治疗方法，大多数是1型患者，而其他患者则值得使用含有vWF的浓缩物进行治疗。
von Willebrand disease (vWD) is caused by quantitative and/or qualitative defects of the von Willebrand factor (vWF), a multimeric high molecular weight glycoprotein. Typically, it affects the primary hemostatic system, which results in a mucocutaneous bleeding tendency simulating a platelet function defect. The vWF promotes its function in two ways: (i) by initiating platelet adhesion to the injured vessel wall under conditions of high shear forces, and (ii) by its carrier function for factor VIII in plasma. Accumulating knowledge of the different clinical phenotypes and the pathophysiological basis of the disease translated into a classification that differentiated between quantitative and qualitative defects by means of quantitative and functional parameters, and by analyzing the electrophoretic pattern of vWF multimers. The advent of molecular techniques provided the opportunity for conducting genotype-phenotype studies which have recently helped, not only to elucidate or confirm important functions of vWF and its steps in post-translational processing, but also many disease causing defects. Acquired von Willebrand syndrome (avWS) has gained more attention during the recent years. An international registry was published and recommendation by the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis in 2000. It concluded that avWS, although not a frequent disease, is nevertheless probably underdiagnosed. This should be addressed in future prospective studies. The aim of treatment is the correction of the impaired hemostatic system of the patient, ideally including the defects of both primary and secondary hemostasis. Desmopressin is the treatment of choice in about 70% of patients, mostly with type 1, while the others merit treatment with concentrates containing vWF.