Objective:

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, aiming to improve the ability of clinicians and radiologists in the identification, diagnosis, and treatment of this disease.

Approach:

• Patient Analysis: A retrospective analysis of clinical data from 3 patients with HHT and hepatic involvement admitted to our hospital over the past 5 years was performed, summarizing symptoms, lab results, imaging findings, and treatment outcomes.
• Literature Review: A comprehensive literature review was conducted to analyze existing knowledge on HHT with hepatic involvement.

Key Findings:

• All patients met the Curacao diagnostic criteria for HHT and exhibited diffuse hepatic arteriovenous malformations, primarily as mixed shunts.
• Imaging findings included dilated hepatic arteries, early visualization of the portal vein and hepatic vein, diffuse intrahepatic telangiectasias, and abnormal perfusion.
• One patient developed biloma, and another had portal hypertension with esophagogastric varices.
• Transcatheter hepatic arterial embolization (TAE) was performed on one patient, leading to extensive thrombosis of the main portal vein and superior mesenteric vein.

Interpretation:

Hepatic involvement in HHT is characterized by diffuse vascular malformations with insidious clinical manifestations, often leading to misdiagnosis. Doppler ultrasound is recommended for screening, while CT/MRI are essential for comprehensive evaluation.

Limitations:

• The study is based on a small sample size of only 3 patients.
• The retrospective nature may limit the generalizability of findings.

Conclusion:

Hepatic involvement in HHT requires careful imaging evaluation to avoid misdiagnosis and inappropriate treatment, with a high risk of complications from interventional procedures.