期刊
HAEMOPHILIA
卷 14, 期 4, 页码 685-696出版社
BLACKWELL PUBLISHING
DOI: 10.1111/j.1365-2516.2008.01757.x
关键词
bleeding; diagnosis; management; mutation analysis; von Willebrand disease
类别
There has been much recent data published on type 1 von Willebrand disease (VWD) predominantly from three multi-centre cohort studies. These data have influenced a revision of the classification of type 1 VWD and have important implications for the management of this disorder. Patients with low von Willebrand factor (VWF) levels tend to have VWF mutations and VWD is transmitted predictably within families. In patients with VWF levels close to the lower end of the normal range, candidate mutations are found less often, ABO blood group is a more important factor and the disease has variable heritability within families. The importance of bleeding symptoms, in addition to VWF levels, in the diagnosis of type 1 VWD has been highlighted.
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