The diagnosis and management of von Willebrand disease: a United Kingdom Haemophilia Centre Doctors Organization guideline approved by the British Committee for Standards in Haematology.
The diagnosis and management of von Willebrand disease: a United Kingdom Haemophilia Centre Doctors Organization guideline approved by the British Committee for Standards in Haematology.
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DOI：
10.1111/bjh.13064
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发表时间：
2014-11
影响因子：
6.5
通讯作者：
Keeling DM
中科院分区：
文献类型：
--
作者：
Laffan MA;Lester W;O'Donnell JS;Will A;Tait RC;Goodeve A;Millar CM;Keeling DM
血管性血友病因子（VWF）是一种大而复杂的血浆糖蛋白，对正常止血至关重要。众所周知，VWF缺乏导致出血性疾病，其严重程度根据缺乏程度和分子的特定特征而变化，可能具有原发性和继发性止血缺陷的特征。该蛋白的复杂结构和人群中广泛的血浆水平使实验室评估和诊断成为一个具有挑战性的命题。自该小组的最后一份指南（Laffan等人2004年，Pasi等人2004年）以来，在了解VWF的遗传学、功能和临床相关性方面取得了相当大的进展，这些已被纳入本修订和统一的文件中。在这里，我们将血管性血友病（VWD）定义为一种出血性疾病，主要归因于VWF活性水平降低。我们认识到，这通常（但并不总是）可归因于VWF基因的缺陷。我们的重点仍然是实际指导，而不是分类学的纯洁性。
Von Willebrand factor (VWF) is a large and complex plasma glycoprotein that is essential for normal haemostasis. It is well recognized that deficiency of VWF results in a bleeding disorder that varies in severity according to the degree of deficiency and the specific characteristics of the molecule and which may have features of both primary and secondary haemostatic defects. The complex structure of the protein and the wide range of plasma levels encountered in the population make laboratory assessment and diagnosis a challenging proposition. Since the last guidelines by this group (Laffan, et al 2004, Pasi, et al 2004), there have been considerable advances in understanding the genetics, function and clinical correlates of VWF, which have been incorporated into this revised and unified document. Here we define von Willebrand disease (VWD) as a bleeding disorder that is predominantly attributable to reduced levels of VWF activity. We recognize that this is frequently, but not always, attributable to a defect in the VWF gene (VWF). Our emphasis remains on practical guidance rather than taxonomic purity.
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影响因子：
20.3
作者：
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