The diagnosis and management of von Willebrand disease
The diagnosis and management of von Willebrand disease
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冯维勒布兰德病的诊断和治疗
DOI：
10.11406/rinketsu.62.1205
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发表时间：
2021
期刊：
影响因子：
--
通讯作者：
松下 正
中科院分区：
文献类型：
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作者：
Kaji D;Kusakabe M;Sakata‐Yanagimoto M;Makishima K;Suehara Y;Hattori K;Ota Y;Mitsuki T;Yuasa M;Kageyama K;Taya Y;Nishida A;Ishiwata K;Takagi S;Yamamoto H;Asano‐Mori Y;Ubara Y;Izutsu K;Uchida N;Wake A;Taniguchi S;Yamamoto G;Chiba S;松下 正
血管性血友病(VWD)是由于血管性血友病因子(VWF)在数量和质量上的异常引起的一种先天性出血性疾病。1926年，瑞典医生埃里克·冯·威勒布兰德(Erik Von Willebrand)首次报道了vWD，他报告了一个家庭的出血性疾病。VWD表现为皮肤和粘膜出血(异常的原发止血)。这些症状没有血友病那么严重，在许多情况下可能无法诊断。选择和患者管理都需要循证指导。由于瑞斯托菌素辅因子活性(vWF：RCO)和vWF抗原水平(vWF：Ag)在临床实验室中不是常规测定，实际诊断通常是通过激活的部分凝血活酶时间(APTT)轻微延长与凝血因子VIII活性相对降低来确定的。特别是，希望提供关于如何引入最近提出的出血评分(BS；VWD的各种出血症状的临床评分)以及如何处理妇科症状的标准治疗措施，如月经过多和阴道不规则出血。在治疗选择方面，重组vWF浓缩液于2020年推出，这导致患者的治疗选择范围扩大。
Von Willebrand disease (VWD) is a congenital bleeding disorder caused by quantitative and qualitative abnormalities in von Willebrand factor (VWF). VWD was first reported in 1926 by Dr. Erik von Willebrand, a Swedish physician, who reported a bleeding disorder in a family. VWD manifests as bleeding from the skin and mucous membranes (abnormal primary hemostasis). The symptoms are less severe than those of hemophilia and may be undiagnosed in many cases. Evidence-based guidelines are required for selection and patient management. Since ristocetin cofactor activity (vWF: RCo) and VWF antigen levels (vWF: Ag) are not routinely measured in clinical laboratories, the actual diagnosis is often determined by a mild prolongation of the activated partial thromboplastic time (APTT) associated with a relative decrease in factor VIII activity. Particularly, it is desirable to provide standard treatment measures on how to introduce the recently proposed bleeding score (BS; clinically scored for various bleeding symptoms of VWD) and how to deal with gynecological symptoms, such as excessive menstruation and irregular vaginal bleeding. In terms of treatment options, recombinant vWF concentrates were introduced in 2020, which has led to the expansion in the range of treatment options for patients.