Antony C, Rossaint R, Schaelte G
Klinik für Anästhesiologie, Universitätsklinikum der RWTH Aachen, Pauwelsstr. 30, 52074 Aachen, Deutschland.
Internist (Berl). 2010 Sep;51(9):1118, 1120-6. doi: 10.1007/s00108-009-2491-y.
Von Willebrand's disease is an inherited bleeding disorder with a prevalence as high as 1% in the general population. The disease is caused by the quantitative deficiency or dysfunction of von Willebrand factor (VWF), a large multimeric glycoprotein. VWF has two main functions in hemostasis: it is essential for platelet-plug formation as an adhesion protein and it forms a non-covalent complex with coagulation factor VIII in plasma, thereby protecting it from inactivation and clearance. Inherited Von Willebrand's disease has been subdivided into 3 categories that reflect pathophysiology: partial quantitative deficiency of VWF (Type 1), qualitative deficiency (Type 2) and total deficiency (Type 3). The major clinical hallmark in Von Willebrand's disease is an increased tendency to mucocutaneous bleeding. Increased bleeding may also occur in sites such as muscles and joints when the level of factor VIII is particularly low. The mainstays of therapy are desmopressin, which induces secretion of autologous factor VIII and VWF into plasma, and plasma concentrates, which supply allogenic forms of these moieties. Other forms of treatment can be considered as adjunctive to these.
血管性血友病是一种遗传性出血性疾病,在普通人群中的患病率高达1%。该疾病由血管性血友病因子(VWF)的数量缺乏或功能障碍引起,VWF是一种大型多聚体糖蛋白。VWF在止血过程中有两个主要功能:作为一种粘附蛋白,它对血小板栓形成至关重要;它在血浆中与凝血因子VIII形成非共价复合物,从而保护其不被灭活和清除。遗传性血管性血友病已被细分为反映病理生理学的3类:VWF部分数量缺乏(1型)、质量缺乏(2型)和完全缺乏(3型)。血管性血友病的主要临床特征是粘膜皮肤出血倾向增加。当因子VIII水平特别低时,肌肉和关节等部位也可能出现出血增加。治疗的主要方法是去氨加压素,它可诱导自体因子VIII和VWF分泌到血浆中,以及血浆浓缩物,它可提供这些成分的同种异体形式。其他治疗形式可被视为这些治疗的辅助手段。