遗传性出血性毛细血管扩张症的临床及影像研究进展  

Clinical and imaging advances in hereditary hemorrhagic telangiectasia

作　　者：何靖怡 夏娟[1,2,3] 马小静 HE Jingyi;XIA Juan;MA Xiaojing(Department of Ultrasound,Wuhan Asia Heart Hospital Affiliated to Wuhan University of Science and Technology,Wuhan,Hubei 430022,China;不详)

机构地区：[1]武汉科技大学附属武汉亚洲心脏病医院超声科,湖北武汉430022 [2]武汉科技大学医学部医学院,湖北武汉430065 [3]武汉市心血管影像临床医学研究中心,湖北武汉430022

出　　处：《中华全科医学》2025年第2期300-304,322,共6页Chinese Journal of General Practice

基　　金：武汉市科技局应用基础前沿专项(2019020701011422);武汉市科技局知识创新专项(2023020201010204)。

摘　　要：遗传性出血性毛细血管扩张症(HHT)是一种罕见的常染色体显性遗传血管疾病,其特征是皮肤、黏膜毛细血管扩张导致不同严重程度的出血综合征和肺、肝和神经系统中存在的动静脉畸形(AVMs),最常见的临床表现为反复的鼻出血,AVMs可并发多种严重的并发症,包括肺动脉高压、高输出量心力衰竭、肝衰竭、门静脉高压、脑脓肿和中风等。HHT患者的临床表现多样,且症状随年龄增长逐渐加重,使用库拉索岛标准和通过对ENG、ACVRL1、SMAD4等基因进行基因分析非常重要。因该疾病存在潜在血管危害及并发症风险,且个体间表现差异较大,最佳管理方法是了解临床表现和疾病的早期体征以及长期、定期的临床和影像学随访,多模态成像如经胸超声心动图、CT和MRI可准确地显示该疾病的内脏受累情况,可作为早期筛查HHT血管病变的重要途径,血管造影是诊断和介入治疗HHT的重要工具,尤其是应用于肺和中枢神经系统中。近期在药物作用于血管生成的分子途径方面取得了进展,对血管生成的病理生理学有了更好的理解,影像学同时有助于了解新疗法的临床反应、止血疗效及安全性,有望减少严重并发症的发生,对诊断和治疗HHT内脏动静脉畸形至关重要。本文就HHT的临床表现结合超声心动图、CT、MRI、血管造影等影像学特点及研究进展作一综述。Hereditary hemorrhagic telangiectasia(HHT)is a rare autosomal dominant hereditary vascular disease characterized by skin and mucosal telangiectasia,leading to different degrees of bleeding syndrome and arteriovenous malformations(AVMs)in lung,liver,and nervous system.The most common clinical manifestation is recurrent nasal bleeding,while AVMs may lead to serious complications,including pulmonary hypertension,high output heart failure,liver failure,portal hypertension,brain abscess,and stroke.The clinical manifestations of HHT vary widely,with symptoms worsening with age.It is important to use the Curacao criteria and to perform genetic analysis of genes such as ENG,ACVRL1,and SMAD4.Due to the potential vascular hazards and complications of the disease,and the individual variability,effective management relies on recognizing clinical manifestations and early signs of the disease,as well as long-term clinical and imaging follow-up.Multimodal imaging,including transthoracic echocardiography,CT,and MRI,is crucial for detecting visceral involvement of the disease,which can serve as an important way to early screen HHT vascular lesions.Angiography is an important tool for both the diagnosis and interventional treatment of HHT,especially for lung and central nervous system.Recently,progresses have been made in the molecular pathway of drug action on angiogenesis,and a better understanding of the pathophysiology of angiogenesis has been achieved.Imaging also helps to understand the clinical response,hemostatic efficacy and safety of new therapies,and is expected to reduce the occurrence of serious complications.It is very important for the diagnosis and treatment of HHT visceral arteriovenous malformations.This article reviews the clinical manifestations of HHT combined with echocardiography,CT,MRI,angiography,and other imaging techniques in diagnosis and management,along with the latest research progress.

关 键 词：遗传性出血性毛细血管扩张症 动静脉畸形 消化道出血 多普勒超声 磁共振成像 

分 类 号：R596[医药卫生—内科学] R445[医药卫生—临床医学]