Hereditary hemorrhagic telangiectasia in a 72-year-old woman presenting with recurrent epistaxis and liver cirrhosis: a case report
Rumit Jha, Prasanna Subedi, Amit Sinha, Siddharth ShahIntroduction and importance:
Hereditary hemorrhagic telangiectasia (HHT) is a rare inherited vascular disorder characterized by mucocutaneous telangiectasias and visceral arteriovenous malformations (AVMs). Although epistaxis often begins in childhood, serious complications, particularly hepatic involvement and, rarely, cirrhosis, manifest later. Hepatic AVMs can cause portal hypertension, high-output cardiac failure, and regenerative liver changes mimicking cirrhosis. True cirrhosis is uncommon but may obscure diagnosis, underscoring the need for early recognition and multidisciplinary management.
Case presentation:
A 72 year-old woman with lifelong recurrent epistaxis and melena presented with chronic anemia. Examination revealed pallor, mild hepatosplenomegaly, and mucocutaneous telangiectasias. Viral, autoimmune, and metabolic liver diseases were excluded. Imaging showed cirrhosis-like liver changes with hepatic vascular malformations and intrahepatic arterioportal shunts. Upper gastrointestinal endoscopy revealed multiple gastric and duodenal telangiectasias. Genetic testing was declined; HHT diagnosis was established clinically via Curaçao criteria. Management included blood transfusions, iron supplementation, and argon plasma coagulation (APC), stabilizing hemoglobin and preventing further bleeding.
Clinical discussion:
HHT is frequently underdiagnosed, with hepatic involvement remaining silent for decades. Vascular shunts may cause portal hypertension and, rarely, cirrhosis. Imaging is essential for detecting hepatic AVMs and guiding therapy. In this case, prolonged intrahepatic shunting led to cirrhosis, highlighting a rare but significant outcome. APC effectively controlled gastrointestinal bleeding.
Conclusion:
Long-standing HHT can rarely progress to cirrhosis due to chronic vascular shunting and parenchymal injury. Awareness of this association is critical, as patients with unexplained cirrhosis and recurrent epistaxis may benefit from early diagnosis and multidisciplinary care.