影像学检查在遗传性出血性毛细血管扩张症中的诊断价值探讨  

Exploration of diagnostic value of imaging examination in hereditary hemorrhagic telangiectasia

作　　者：赵青[1] 万钧 肖瑶[2] 张爽[1] Zhao Qing;Wan Jun;Xiao Yao;Zhang Shuang(Department of Comprehensive Ultrasound,Beijing Anzhen Hospital,Capital Medical University,Beijing 100029,China;Department of Respiratory and Critical Care Medicine,Beijing Anzhen Hospital,Capital Medical University,Beijing 100029,China)

机构地区：[1]首都医科大学附属北京安贞医院综合超声科,北京100029 [2]首都医科大学附属北京安贞医院呼吸与危重症医学科,北京100029

出　　处：《中国医药》2024年第7期1033-1037,共5页China Medicine

基　　金：首都卫生发展科研专项(首发2024-2-2067)。

摘　　要：目的探讨影像学检查在遗传性出血性毛细血管扩张症(HHT)中的诊断价值。方法回顾性分析2019年10月至2024年3月在首都医科大学附属北京安贞医院经临床明确诊断的累及肝脏的7例HHT患者的临床资料。收集患者的临床表现、影像学检查结果[包括超声、CT血管造影(CTA)及右心导管],并总结HHT在不同影像学方法中的诊断特征。结果7例HHT患者中鼻出血6例、贫血5例、皮肤和黏膜的毛细血管扩张3例、咯血和消化道出血各2例,下肢水肿5例、盆腔积液和腹胀各2例。7例患者均有肺动脉高压表现,3例患者合并心房颤动,3例出现肝功能异常,2例患者合并右心衰竭,1例患者合并结缔组织病。所有患者均接受腹部彩色多普勒超声检查,均呈肝脏受累表现,7例患者均探及肝内外动脉明显迂曲扩张,血流速度明显增快;其中4例患者肝内见异常迂曲血管环;4例多发分支血管团;5例患者有肝脏动静脉畸形。经肺血管CTA检查提示合并肺动静脉瘘5例,3例患者呈多发肺动静脉瘘表现;所有患者均接受右心导管检查并呈现不同程度的肺动脉高压。6例患者接受肺动脉高压靶向治疗,2例患者接受基因检测呈阳性。结论HHT女性患者多见,HHT累及肝脏的超声表现具有特异性,CTA和右心导管检查可以及时评估患者肺血管受累情况及肺动脉压力,为靶向治疗的开展提供有效证据。Objective To explore the diagnostic value of imaging examination in hereditary hemorrhagic telangiectasia(HHT).Methods Clinical data of 7 HHT patients diagnosed clinically with liver involvement at Beijing Anzhen Hospital,Capital Medical University from October 2019 to March 2024 were collected for retrospective analysis.The clinical manifestations,imaging examination results[including ultrasound,CT angiography(CTA)and right heart catheterization]of the patients were collected,and the diagnostic characteristics of HHT in different imaging methods were summarized.Results Among the 7 HHT patients,there were 6 cases of nasal bleeding,5 cases of anemia,3 cases of skin and mucosal capillary dilation,2 cases of hemoptysis and gastrointestinal bleeding,5 cases of lower limb edema,and 2 cases of pelvic fluid accumulation and abdominal distension.All 7 patients showed signs of pulmonary arterial hypertension,with 3 patients complicated with atrial fibrillation,3 patients with abnormal liver function,2 patients with right heart failure,and 1 patient with connective tissue disease.All patients underwent abdominal color Doppler ultrasound examination,which showed liver involvement.In all 7 patients,significant tortuous and dilated intrahepatic and extrahepatic arteries were detected,with significantly increased blood flow velocity.Among them,4 patients showed abnormal tortuous vascular rings in the liver;4 cases of multiple branching vascular clusters;5 patients had hepatic arteriovenous malformations.Five cases of pulmonary arteriovenous fistula were detected by pulmonary vascular CTA examination,and 3 patients presented with multiple pulmonary arteriovenous fistulas.All patients underwent right heart catheterization examination and presented with varying degrees of pulmonary arterial hypertension.Six patients received targeted treatment for pulmonary arterial hypertension,and 2 patients tested positive for genetic testing.Conclusions HHT is more common in female patients.The ultrasound manifestations of HHT involving the l

关 键 词：遗传性出血性毛细血管扩张症 肝脏血管畸形 超声 影像 诊断特征 

分 类 号：R543.7[医药卫生—心血管疾病]