S5840 Cirrhosis and Hepatic Involvement in Hereditary Hemorrhagic Telangiectasia

Introduction: Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant vascular disorder characterized by mucocutaneous telangiectasias and visceral arteriovenous malformations (AVMs). Hepatic involvement is common, though only 8–10% develop clinical manifestations. In rare instances, hepatic AVMs may lead to progressive fibrosis and cirrhosis. We present a case of decompensated cirrhosis and portal hypertension secondary to hepatic AVMs in a patient with HHT. Case Description/Methods: A 55-year-old woman with a history of type 2 diabetes mellitus, asthma, and cerebral palsy, and a family history of HHT, was diagnosed with liver cirrhosis after routine laboratory testing revealed elevated liver enzymes. Hepatitis viral serologies and autoimmune workup were negative. Initially asymptomatic, she progressed over 4 years to decompensated cirrhosis with portal hypertension, manifesting as ascites and esophageal varices. Management included periodic paracentesis and serial esophagogastroduodenoscopies (EGDs) with band ligation. Despite intervention, varices progressed and symptoms worsened. Laboratory testing revealed elevated alkaline phosphatase and mildly elevated aspartate aminotransferase, with low iron studies. Imaging, including MRCP and computed tomography abdomen/pelvis, confirmed a cirrhotic liver with a large hepatic artery-venous shunt and no biliary obstruction. The patient was referred to transplant hepatology and cardiology for further evaluation. Due to the AVM anatomy, she was not a candidate for transjugular intrahepatic portosystemic shunt (TIPS) and is currently being assessed for liver transplantation. Discussion: Liver involvement in HHT may lead to serious complications such as high-output heart failure, biliary disease, and portal hypertension. While most patients remain asymptomatic, a small subset develops progressive liver disease. Management of hepatic complications is supportive and may include diuretics, band ligation, or TIPS, although anatomical variations can limit their feasibility. Liver transplantation remains the definitive treatment in cases of severe hepatic AVM-related complications. In this case, the patient’s cirrhosis and portal hypertension were attributed to intrahepatic AVMs. Due to her complex vascular anatomy, conventional therapies were inadequate, warranting transplant evaluation.