Publicação
Ischemic Cholangiopathy: A Rare Manifestation in Hereditary Hemorrhagic Telangiectasia
| 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 |
| _version_ | 1877792305571692544 |
|---|---|
| author | Silva,Maria J. |
| author2 | Ferreira,José M. Torres,Tiago P. Simões,Ana M. Mendes,Hugo T. Oliveira,Pedro G. |
| author2_role | author author author author author |
| author_facet | Silva,Maria J. Ferreira,José M. Torres,Tiago P. Simões,Ana M. Mendes,Hugo T. Oliveira,Pedro G. |
| author_role | author |
| country_str | PT |
| creators_json_txt | [{\"Person.name\":\"Silva,Maria J.\"},{\"Person.name\":\"Ferreira,José M.\"},{\"Person.name\":\"Torres,Tiago P.\"},{\"Person.name\":\"Simões,Ana M.\"},{\"Person.name\":\"Mendes,Hugo T.\"},{\"Person.name\":\"Oliveira,Pedro G.\"}] |
| datacite.creators.creator.creatorName.fl_str_mv | Silva,Maria J. Ferreira,José M. Torres,Tiago P. Simões,Ana M. Mendes,Hugo T. Oliveira,Pedro G. |
| datacite.rights.fl_str_mv | http://purl.org/coar/access_right/c_abf2 |
| datacite.subjects.subject.fl_str_mv | Hereditary hemorrhagic telangiectasia Osler-Weber-Rendu Liver Arteriovenous malformations Ischemic cholangiopathy Biloma. |
| datacite.titles.title.fl_str_mv | Ischemic Cholangiopathy: A Rare Manifestation in Hereditary Hemorrhagic Telangiectasia |
| dc.creator.none.fl_str_mv | Silva,Maria J. Ferreira,José M. Torres,Tiago P. Simões,Ana M. Mendes,Hugo T. Oliveira,Pedro G. |
| dc.format.none.fl_str_mv | text/html |
| dc.identifier.none.fl_str_mv | http://scielo.pt/scielo.php?script=sci_arttext&pid=S2183-13512025000200027 |
| dc.language.none.fl_str_mv | eng |
| dc.publisher.none.fl_str_mv | Sociedade Portuguesa de Radiologia e Medicina Nuclear |
| dc.rights.none.fl_str_mv | http://purl.org/coar/access_right/c_abf2 |
| dc.source.none.fl_str_mv | Acta Radiológica Portuguesa v.37 n.2 2025 |
| dc.subject.none.fl_str_mv | Hereditary hemorrhagic telangiectasia Osler-Weber-Rendu Liver Arteriovenous malformations Ischemic cholangiopathy Biloma. |
| dc.title.fl_str_mv | Ischemic Cholangiopathy: A Rare Manifestation in Hereditary Hemorrhagic Telangiectasia |
| dc.type.none.fl_str_mv | http://purl.org/coar/resource_type/c_93fc |
| description | 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. |
| dirty | 0 |
| eu_rights_str_mv | openAccess |
| format | report |
| id | scielopt_2e5cf16ed8a588143686fa4843320bcd |
| identifier.url.fl_str_mv | http://scielo.pt/scielo.php?script=sci_arttext&pid=S2183-13512025000200027 |
| inst_facet_str | urn:organizationAcronym:scielo{{{_:::_}}}Fundação para a Ciência e Tecnologia |
| instacron_str | SciELO |
| institution | Fundação para a Ciência e Tecnologia |
| instname_str | Fundação para a Ciência e Tecnologia |
| language | eng |
| network_acronym_str | scielopt |
| network_name_str | SciELO Portugal |
| oai_identifier_str | oai:scielo:S2183-13512025000200027 |
| organization_str_mv | urn:organizationAcronym:scielo |
| person_str_mv | Silva,Maria J. Ferreira,José M. Torres,Tiago P. Simões,Ana M. Mendes,Hugo T. Oliveira,Pedro G. |
| publishDate | 2025 |
| publisher.none.fl_str_mv | Sociedade Portuguesa de Radiologia e Medicina Nuclear |
| repo_facet_str | urn:repositoryAcronym:scielopt{{{_:::_}}}SciELO Portugal |
| reponame_str | SciELO Portugal |
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| spelling | Ischemic Cholangiopathy: A Rare Manifestation in Hereditary Hemorrhagic TelangiectasiaSilva,Maria J.Ferreira,José M.Torres,Tiago P.Simões,Ana M.Mendes,Hugo T.Oliveira,Pedro G.Hereditary hemorrhagic telangiectasiaOsler-Weber-RenduLiverArteriovenous malformationsIschemic cholangiopathyBiloma.open accesshttp://purl.org/coar/access_right/c_abf2http://scielo.pt/scielo.php?script=sci_arttext&pid=S2183-13512025000200027URLhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S2183-13512025000200027URLHasVersion2025-08-01Abstract 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.Sociedade Portuguesa de Radiologia e Medicina NuclearActa Radiológica Portuguesa v.37 n.2 2025text/htmlengreporthttp://purl.org/coar/resource_type/c_93fcother research product |
| spellingShingle | Ischemic Cholangiopathy: A Rare Manifestation in Hereditary Hemorrhagic Telangiectasia Silva,Maria J. Hereditary hemorrhagic telangiectasia Osler-Weber-Rendu Liver Arteriovenous malformations Ischemic cholangiopathy Biloma. |
| status | SINGLETON |
| subject.fl_str_mv | Hereditary hemorrhagic telangiectasia Osler-Weber-Rendu Liver Arteriovenous malformations Ischemic cholangiopathy Biloma. |
| title | Ischemic Cholangiopathy: A Rare Manifestation in Hereditary Hemorrhagic Telangiectasia |
| title_full | Ischemic Cholangiopathy: A Rare Manifestation in Hereditary Hemorrhagic Telangiectasia |
| title_fullStr | Ischemic Cholangiopathy: A Rare Manifestation in Hereditary Hemorrhagic Telangiectasia |
| title_full_unstemmed | Ischemic Cholangiopathy: A Rare Manifestation in Hereditary Hemorrhagic Telangiectasia |
| title_short | Ischemic Cholangiopathy: A Rare Manifestation in Hereditary Hemorrhagic Telangiectasia |
| title_sort | Ischemic Cholangiopathy: A Rare Manifestation in Hereditary Hemorrhagic Telangiectasia |
| topic | Hereditary hemorrhagic telangiectasia Osler-Weber-Rendu Liver Arteriovenous malformations Ischemic cholangiopathy Biloma. |
| topic_facet | Hereditary hemorrhagic telangiectasia Osler-Weber-Rendu Liver Arteriovenous malformations Ischemic cholangiopathy Biloma. |
| url | http://scielo.pt/scielo.php?script=sci_arttext&pid=S2183-13512025000200027 |
| visible | 1 |
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