Exploration of diagnostic value of imaging examination in hereditary hemorrhagic telangiectasia
Zhao Qing
Wan Jun
Xiao Yao
Zhang Shuang
Abstract：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 liver have a certain specificity.CTA and right heart catheterization can timely assess pulmonary vascular involvement and pulmonary artery pressure,providing effective evidence for targeted therapy.
Keywords：Hereditary hemorrhagic telangiectasiaHepatic vascular malformationsUltrasoundImagingDiagnositic manifestation
Publication Date：2024-07-08
Online Publishing Date：2026-09-14(First online date of this platform, not the publication date of the document)
Pages：5( 1033-1037 )