Viteri-Noël Adrian, González-García Andrés, Patier José Luis, Fabregate Martin, Bara-Ledesma Nuria, López-Rodríguez Mónica, Gómez Del Olmo Vicente, Manzano Luis
Internal Medicine Department, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.
Faculty of Medicine and Health Sciences, Universidad de Alcalá (UAH), 28801 Alcalá de Henares, Spain.
J Clin Med. 2022 Sep 5;11(17):5245. doi: 10.3390/jcm11175245.
Hereditary hemorrhagic telangiectasia is an inherited disease related to an alteration in angiogenesis, manifesting as cutaneous telangiectasias and epistaxis. As complications, it presents vascular malformations in organs such as the lung, liver, digestive tract, and brain. Currently, diagnosis can be made using the Curaçao criteria or by identifying the affected gene. In recent years, there has been an advance in the understanding of the pathophysiology of the disease, which has allowed the use of new therapeutic strategies to improve the quality of life of patients. This article reviews some of the main and most current evidence on the pathophysiology, clinical manifestations, diagnostic approach, screening for complications, and therapeutic options, both pharmacological and surgical.
遗传性出血性毛细血管扩张症是一种与血管生成改变相关的遗传性疾病，表现为皮肤毛细血管扩张和鼻出血。作为并发症，它会在肺、肝、消化道和脑等器官出现血管畸形。目前，可以使用库拉索标准或通过鉴定受影响的基因进行诊断。近年来，对该疾病病理生理学的认识有了进展，这使得能够采用新的治疗策略来改善患者的生活质量。本文综述了一些关于病理生理学、临床表现、诊断方法、并发症筛查以及药物和手术治疗选择的主要和最新证据。
