中国全科医学2024，Vol.27Issue(36)：4609-4614,6.DOI:10.12114/j.issn.1007-9572.2024.0076
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
摘要
Abstract
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.关键词
遗传性出血性毛细血管扩张症/临床特征/血管畸形/并发症/治疗Key words
Hereditary hemorrhagic telangiectasia/Clinical manifestations/Vascular malformations/Complication/Treatment分类
医药卫生引用本文复制引用
王士洪,李菁..遗传性出血性毛细血管扩张症30例临床特征研究[J].中国全科医学,2024,27(36):4609-4614,6.基金项目
中央高水平医院临床研究基金(2022-PUMCH-A-006,2022-PUMCH-C-068) （2022-PUMCH-A-006,2022-PUMCH-C-068）
