Imaging features, diagnosis, and clinical management of hepatic involvement in hereditary hemorrhagic telangiectasia: a case series report and literature review.

To explore the clinical characteristics, imaging features, key diagnostic and therapeutic points, and risks of interventional therapy in hereditary hemorrhagic telangiectasia (HHT) with hepatic involvement, so as to improve the ability of clinicians and radiologists in the identification, diagnosis and treatment of this disease. A retrospective analysis was performed on the clinical data of 3 patients with HHT who were admitted to our hospital in the past 5 years and presented with predominant hepatic involvement. Their clinical symptoms, laboratory test results, imaging findings, and treatment outcomes were summarized, and a literature review was conducted for comprehensive analysis. All 3 patients met the Curacao diagnostic criteria for HHT and were found to have diffuse hepatic arteriovenous malformations, mainly presenting as mixed shunts. Computed tomography (CT) and magnetic resonance imaging (MRI) revealed dilated hepatic arteries, early visualization of the portal vein and hepatic vein, diffuse intrahepatic telangiectasias, and abnormal perfusion. One patient was complicated with biloma, and another was associated with portal hypertension and esophagogastric varices. Patient 3 underwent transcatheter hepatic arterial embolization (TAE) due to abdominal pain, and extensive thrombosis of the main portal vein and superior mesenteric vein occurred after the operation. Hepatic involvement in HHT is characterized by diffuse hepatic vascular malformations, with insidious clinical manifestations that are prone to misdiagnosis. Doppler ultrasound is the preferred screening method, while CT/MRI can comprehensively evaluate vascular malformations and related complications. Hepatic arterial embolization has a high risk of inducing portal vein thrombosis, and its routine application should be avoided in strict accordance with international guidelines. Clinicians need to strengthen medical history collection and multimodal imaging evaluation to reduce misdiagnosis and mistreatment.