Federici Augusto B
Department of Internal Medicine, Angelo Bianchi Bonomi Hemophilia Thrombosis Center, IRCCS Maggiore Hospital and University of Milan, Via Pace 9, 20122 Milano, Italy.
Curr Hematol Rep. 2003 Sep;2(5):373-80.
Diagnosis of mild forms of type 1 and 2 von Willebrand disease (VWD) may be difficult, especially when the levels of von Willebrand factor (VWF) activities measured as ristocetin cofactor are close to normal (30-60 U/dL) because the laboratory phenotype is highly heterogeneous and confounded by factors outside the VWF gene (eg, blood group) that may influence VWF levels. An array of tests is often required to characterize the VWD types of the disorder and establish the best treatment modality, but laboratory data should always be interpreted in the presence of personal and family bleeding history. The aim of treatment is to correct the dual defect of hemostasis (ie, abnormal coagulation expressed by low levels of factor VIII:C and abnormal platelet adhesion expressed by the prolonged bleeding time). Desmopressin (1-deamino-8-D-arginine vasopressin; DDAVP) is the treatment of choice for the mild forms of type 1 and 2 VWD because it often corrects the factor VIII/VWF levels and the prolonged bleeding time in most patients, but no prospective studies on clinical effects of DDAVP are available. In type 1 and type 2 VWD unresponsive to DDAVP, plasma virally inactivated concentrates containing VWF and factor VIII are the mainstay of treatment.
诊断1型和2型血管性血友病（VWD）的轻度形式可能很困难，尤其是当以瑞斯托霉素辅因子测量的血管性血友病因子（VWF）活性水平接近正常（30 - 60 U/dL）时，因为实验室表型高度异质性，且受到VWF基因以外可能影响VWF水平的因素（如血型）的干扰。通常需要一系列检测来确定该疾病的VWD类型并确定最佳治疗方式，但实验室数据应始终结合个人和家族出血史进行解读。治疗的目的是纠正止血的双重缺陷（即由低水平的凝血因子VIII:C表示的异常凝血和由延长的出血时间表示的异常血小板黏附）。去氨加压素（1 - 去氨基 - 8 - D - 精氨酸加压素；DDAVP）是1型和2型VWD轻度形式的首选治疗方法，因为它通常能纠正大多数患者的凝血因子VIII/VWF水平和延长的出血时间，但尚无关于DDAVP临床效果的前瞻性研究。对于对DDAVP无反应的1型和2型VWD，含有VWF和凝血因子VIII的血浆病毒灭活浓缩物是主要治疗手段。
