遗传性出血性毛细血管扩张症30例临床特征研究

Clinical Manifestations of 30 Patients with Hereditary Hemorrhagic Telangiectasia

背景遗传性出血性毛细血管扩张症(HHT)是累及血管的罕见遗传病,其表现具有临床异质性,关于其临床特征的相关报道较少。目的通过总结30例确诊HHT患者的临床表现、治疗及转归,分析该病的临床特点,提高临床医生对疾病的认识。方法回顾性分析北京协和医院2012年12月—2023年9月收治的30例HHT病例,分析HHT的临床特点、治疗和转归。结果30例HHT患者中,男8例,女22例;中位起病年龄20.0(10.5,34.0)岁;中位病程19.5(7.8,26.0)年。30例患者均有鼻衄(100.0%),27例(90.0%)有特定部位的皮肤黏膜毛细血管扩张,28例(93.3%)有内脏血管受累,包括肝血管畸形24例(80.0%),肺血管畸形15例(50.0%),消化道血管受累5例(16.7%),脑血管畸形3例(10.0%)。30例患者中,17例(56.7%)合并肺动脉高压,15例(50.0%)出现缺铁性贫血。15例进行了基因检测:单纯ACVRL1突变12例,ENG突变2例,其中1例同时存在ACVRL1突变和ENG突变。除常规对症治疗外,部分患者进行了针对毛细血管扩张的药物或血管内介入治疗,大部分患者病情得到改善。结论HHT可累及全身多脏器,包括皮肤黏膜及内脏血管,内脏血管受累中最常累及肝脏血管,脑血管受累相对较少,较易出现肺动脉高压、缺铁性贫血并发症。对怀疑该病的患者,需要仔细询问病史、查体,进行内脏血管筛查及基因检测,以早期诊断及治疗。

Background Hereditary hemorrhagic telangiectasia(HHT)is a rare genetic disorder that primarily affects the vasculature and exhibits a broad spectrum of clinical manifestations.There is a paucity of detailed literature on its clinical characteristics.Objective This study aims to deepen the understanding of HHT's clinical aspects by documenting the presentations,management,and outcomes of 30 patients diagnosed with the condition,thereby improving recognition and treatment approaches among healthcare professionals.Methods A retrospective review was conducted on 30 HHT cases treated at Peking Union Medical College Hospital from December 2012 to September 2023,focusing on analyzing their clinical features,therapeutic interventions,and follow-up outcomes.Results The study included 8 males and 22 females,with a mean onset age of 20.0 years(range 10.5-34.0 years)and an average disease duration of 19.5 years(range 7.8-26.0 years).Epistaxis was universally present(100.0%),skin and mucosal telangiectasia were noted in 27 patients(90.0%),and 28(93.3%)exhibited involvement of internal organs,including liver in 24(80.0%),lungs in 15(50.0%),gastrointestinal tract in 5(16.7%),and brain in 3(10.0%).Additionally,pulmonary hypertension was observed in 17(56.7%)and iron deficiency anemia in 15(50.0%).Genetic analysis in 15 patients identified ACVRL1 mutations in 12,ENG mutations in 2,and one patient with both.Beyond routine symptomatic care,some patients underwent targeted medical or interventional treatments,with the majority showing clinical improvement.Conclusion HHT is a systemic disorder affecting multiple organs,with frequent liver and occasional brain involvement.It commonly leads to serious complications such as pulmonary hypertension and iron deficiency anemia.Detailed patient history,thorough examinations,targeted screening of visceral vessels,and genetic testing are essential for early diagnosis and effective management in suspected cases.