Department of Internal Medicine, Faculty of Medical Sciences, University of Kragujevac, Svetozara Markovica 69, 34000 Kragujevac, Serbia.
Center for Molecular Medicine and Stem Cell Research, Faculty of Medical Sciences, University of Kragujevac, Svetozara Markovica 69, 34000 Kragujevac, Serbia.
Int J Mol Sci. 2024 Oct 14;25(20):11041. doi: 10.3390/ijms252011041.
Heyde syndrome, marked by aortic stenosis, gastrointestinal bleeding from angiodysplasia, and acquired von Willebrand syndrome, is often underreported. Shear stress from a narrowed aortic valve degrades von Willebrand factor multimers, leading to angiodysplasia formation and von Willebrand factor deficiency. This case report aims to raise clinician awareness of Heyde syndrome, its complexity, and the need for a multidisciplinary approach. We present a 75-year-old man with aortic stenosis, gastrointestinal bleeding from angiodysplasia, and acquired von Willebrand syndrome type 2A. The patient was successfully treated with argon plasma coagulation and blood transfusions. He declined further treatment for aortic stenosis but was in good overall health with improved laboratory results during follow-up. Additionally, we provide a comprehensive review of the molecular mechanisms involved in the development of this syndrome, discuss current diagnostic and treatment approaches, and offer future perspectives for further research on this topic.
海德尔综合征(Heyde syndrome)的特征为主动脉瓣狭窄、动静脉畸形引起的胃肠道出血和获得性血管性血友病(von Willebrand syndrome),常被漏诊。狭窄的主动脉瓣产生的切变应力使血管性血友病因子多聚体降解,导致动静脉畸形形成和血管性血友病因子缺乏。本病例报告旨在提高临床医生对海德尔综合征及其复杂性的认识,以及对多学科方法的需求。我们报告了一例 75 岁男性,患有主动脉瓣狭窄、动静脉畸形引起的胃肠道出血和获得性血管性血友病 2A 型。患者成功接受了氩等离子体凝固和输血治疗。他拒绝进一步治疗主动脉瓣狭窄,但整体健康状况良好,随访时实验室结果改善。此外,我们还对该综合征发展过程中的分子机制进行了全面综述,讨论了目前的诊断和治疗方法,并对该主题的进一步研究提出了未来展望。