Lethagen S R
Department for Coagulation Disorders, University of Lund, Malmö, Sweden.
Ann Med. 1995 Dec;27(6):641-51. doi: 10.3109/07853899509019250.
Von Willebrand's disease is probably the most common congenital bleeding disorder, with a prevalence close to 1% in some epidemiological studies. The disease is caused by a quantitative deficiency or a qualitative defect of the von Willebrand factor, which is a multimeric glycoprotein consisting of subunits of 2050 amino acids. The size of multimers ranges from approximately 500 kDa to 20 MDa. Each subunit consist of repeated domain structures. Several functional domains have been identified which can bind such structures as platelet receptors glycoprotein Ib or IIb/IIIA, heparin, collagen or factor VIII. The von Willebrand factor has two main functions in haemostasis, to promote normal platelet adhesion and to be a carrier protein for factor VIII. Von Willebrand's disease is divided into three major types and several subtypes depending on the quantity and quality of the von Willebrand factor in plasma and platelets. A new classification has recently been proposed. Typical symptoms are mucosal bleeding, easy bruising and increased bleeding tendency in connection with tooth extractions and other invasive procedures. Severe cases may have joint bleeding and other haemophilia-like bleeding. Desmopressin is the treatment of choice in mild cases, whereas more severe cases need treatment with factor VIII concentrates.
血管性血友病可能是最常见的先天性出血性疾病，在一些流行病学研究中的患病率接近1%。该病由血管性血友病因子的数量不足或质量缺陷引起，血管性血友病因子是一种由2050个氨基酸亚基组成的多聚体糖蛋白。多聚体的大小范围约为500 kDa至20 MDa。每个亚基由重复的结构域组成。已鉴定出几个功能结构域，它们可以结合血小板受体糖蛋白Ib或IIb/IIIA、肝素、胶原蛋白或因子VIII等结构。血管性血友病因子在止血中有两个主要功能，促进正常血小板黏附以及作为因子VIII的载体蛋白。根据血浆和血小板中血管性血友病因子的数量和质量，血管性血友病分为三大类型和几个亚型。最近提出了一种新的分类方法。典型症状为黏膜出血、容易瘀伤以及拔牙和其他侵入性操作时出血倾向增加。严重病例可能出现关节出血和其他类似血友病的出血。去氨加压素是轻度病例的首选治疗方法，而更严重的病例则需要用因子VIII浓缩物进行治疗。
