摘要
血管性血友病(von Willebrand disease,VWD)是血管性血友病因子(von Willebrand factor,VWF)基因突变引起血浆VWF数量减少或质量异常的遗传性出血性疾病。VWD患者的凝血功能异常导致其易发生多部位反复性出血,严重影响生活质量。目前主要治疗策略包括去氨加压素、VWF替代治疗制剂(血源性/重组产品)及非替代疗法(抗纤溶药物、性激素)。去氨加压素主要适用于1型和部分2型VWD患者,但其不良反应和禁忌证限制了临床应用。替代治疗中,血源性VWF存在病原体传播风险且缺乏超大多聚体;重组VWF通过基因工程技术避免了病原体传播风险,且在半衰期和止血效果方面具有优势。虽然非替代疗法和新型治疗手段(如基因治疗)展现出应用潜力,其长期安全性和有效性仍需验证。随着对VWD病理机制的深入研究,基于VWD研究的最新进展,本文综述了VWD患者的疾病负担和药物治疗研究进展。
von Willebrand disease(VWD)is an inherited bleeding disorder caused by mutations in the von Willebrand factor(VWF)gene,resulting in quantitative deficiencies or qualitative defects of plasma VWF.Coagulation abnormalities in VWD patients predispose them to recurrent bleeding at multiple anatomical sites,directly compromising their quality of life.Current treatments primarily include desmopressin,VWF replacement therapy(plasma-derived or recombinant),and non-replacement treatments(antifibrinolytics,sex hormones).Desmopressin is indicated for type 1 and some type 2 VWD patients,though its use is limited by adverse effects and contraindications.In replacement therapy,plasma-derived VWF carries pathogen transmission risks and lacks ultra-large multimers.In contrast,recombinant VWF,produced via genetic engineering,eliminates pathogen transmission risks and demonstrates superior pharmacokinetic properties and hemostatic efficacy.Although non-replacement approaches and novel treatments(e.g.,gene therapy)show potential,their long-term safety and efficacy need further validation.Based on improved pathophysiological understanding and recent advances in VWD research,this review summarizes current evidence on disease burden and recent progress in pharmacological management of VWD.
作者
毕慧
周泽平
Bi Hui;Zhou Zeping(Department of Hematology,The Second Affiliated Hospital of Kunming Medical University,Kunming 650000,China)
出处
《血栓与止血学》
2025年第4期180-187,共8页
Chinese Journal of Thrombosis and Hemostasis
