Ischemic Cholangiopathy: A Rare Manifestation in Hereditary Hemorrhagic Telangiectasia

Résumé

Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by skin and mucosal telangiectasias and visceral arteriovenous malformations (AVMs). We report a case of ischemic cholangiopathy in a 60-year-old female with HHT who initially presented with intermittent biliary colic and no significant medical history. The absence of typical HHT symptoms made imaging crucial for diagnosis. Abdominal ultrasound, CT, and MRI revealed hepatic artery dilatation, hepatic telangiectasias, AVMs, and multiple bilomas. In this setting, the bilomas result from biliary ductal necrosis due to arterial shunting induced by AVMs. Although the patient initially presented without common HHT manifestations such as epistaxis, a subsequent reassessment during the physical exam identified mucocutaneous telangiectasias, and genetic testing later confirmed the diagnosis. This case highlights the importance of recognizing specific imaging features to diagnose and understand the implications of ischemic cholangiopathy, a rare but distinct phenotype in patients with HHT.