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Ischemic Cholangiopathy: A Rare Manifestation in Hereditary Hemorrhagic Telangiectasia

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Resumo:Abstract 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 AVMs and 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.
Autores principais:Silva,Maria J.
Outros Autores:Ferreira,José M.; Torres,Tiago P.; Simões,Ana M.; Mendes,Hugo T.; Oliveira,Pedro G.
Assunto:Hereditary hemorrhagic telangiectasia Osler-Weber-Rendu Liver Arteriovenous malformations Ischemic cholangiopathy Biloma.
Ano:2025
País:Portugal
Tipo de documento:relatório
Tipo de acesso:acesso aberto
Instituição associada:Fundação para a Ciência e Tecnologia
Idioma:inglês
Origem:SciELO Portugal

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