遗传性出血性毛细血管扩张症致咯血1例并文献复习  

Hemoptysis caused by hereditary hemorrhagic telangiectasia:A case report and literature review

作　　者：高丽[1,2,3,4] 彭雅婷 欧阳若芸[1,2,3,4] GAO Li;PENG Yating;OUYANG Ruoyun(Department of Respiratory and Critical Care Medicine,Second Xiangya Hospital,Central South University,Changsha 410011;Research Institute of Respiratory Diseases,Central South University,Changsha 410011;Hunan Clinical Research Center for Respiratory and Critical Diseases,Changsha 410011;Respiratory Disease Diagnosis and Treatment Center,Central South University,Changsha 410011,China)

机构地区：[1]中南大学湘雅二医院呼吸与危重症医学科,长沙410011 [2]中南大学呼吸疾病研究所,长沙410011 [3]湖南省呼吸与危重症疾病临床医学研究中心,长沙410011 [4]中南大学呼吸疾病诊疗中心,长沙410011

出　　处：《中南大学学报(医学版)》2025年第1期149-154,共6页Journal of Central South University :Medical Science

基　　金：国家自然科学基金(81970086)。

摘　　要：遗传性出血性毛细血管扩张症(hereditary hemorrhagic telangiectasia,HHT),又称Rendu-Osler-Weber综合征,是一种罕见的常染色体显性遗传疾病,可引起多系统血管畸形,包括黏膜皮肤毛细血管扩张和动静脉畸形。本文报告1例就诊于中南大学湘雅二医院的男性HHT病例,主要症状为咯血,这在HHT患者中非常少见,影像学检查发现双侧支气管动脉增粗、迂曲,双侧肺动脉增粗,完善单基因遗传病临床全外显子组检测,最终诊断为ACVRL1基因突变引起的HHT2型。HHT的诊断以临床症状、影像学表现和家族史为主,基因检测能帮助明确诊断及分型。抗血管生成疗法是治疗HHT的有效治疗方法,对治疗咯血、鼻出血和胃肠道出血也非常有效和安全。此病例强调了对于疑似患者,建议尽早行基因筛查以明确病因、早期干预。Hereditary hemorrhagic telangiectasia(HHT),also known as Rendu-Osler-Weber syndrome,is a rare autosomal dominant hereditary disorder characterized by multisystem vascular malformations,including mucocutaneous telangiectasia and arteriovenous malformations.This paper reports a case of a male patient with HHT admitted to the Second Xiangya Hospital of Central South University who presented with hemoptysis,an uncommon manifestation in HHT.Imaging revealed bilateral bronchial artery dilatation and tortuosity,as well as bilateral pulmonary artery enlargement.Whole-exome sequencing for monogenic disorders ultimately identified an ACVRL1 gene mutation,confirming a diagnosis of HHT type 2.Diagnosis of HHT is primarily based on clinical manifestations,imaging findings,and family history,while genetic testing facilitates definitive diagnosis and subtyping.Anti-angiogenic therapy has proven to be an effective and safe treatment approach for controlling hemoptysis,epistaxis,and gastrointestinal bleeding in HHT patients.This case highlights the importance of early genetic screening in suspected cases to enable timely etiological clarification and intervention.

关 键 词：遗传性出血性毛细血管扩张症 常染色体显性遗传疾病 咯血 ACVRL1基因突变 抗血管生成疗法 

分 类 号：R543[医药卫生—心血管疾病]