Minimal encephalopathy in hereditary hemorrhagic telangiectasia patients with portosystemic vascular malformations

BackgroundHereditary hemorrhagic telangiectasia (HHT) is characterized by telangiectasia and larger vascular malformations. Liver malformations are the most frequent visceral involvement including the presence of portosystemic malformations (PSM) that can cause hepatic encephalopathy. Minimal hepati...

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Autores: Villanueva, Bernat, Cañabate, A., Torres Iglesias, Raquel, Cerdà, Pau, Gamundí, Enric, Ordi, Q., Alba, Esther, Sanz Astier, L. A., Iriarte, Adriana, Ribas, Jesús, Castellote Alonso, José, Pintó Sala, Xavier, Riera Mestre, Antoni
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/218890
Acceso en línea:https://hdl.handle.net/2445/218890
Access Level:acceso abierto
Palabra clave:Telangiectasia hemorràgica hereditària
Encefalopatia hepàtica
Malalties rares
Malformacions Portosistèmiques
Hereditary hemorrhagic telangiectasia
Hepatic encephalopathy
Rare diseases
Portosystemic malformations
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spelling Minimal encephalopathy in hereditary hemorrhagic telangiectasia patients with portosystemic vascular malformationsVillanueva, BernatCañabate, A.Torres Iglesias, RaquelCerdà, PauGamundí, EnricOrdi, Q.Alba, EstherSanz Astier, L. A.Iriarte, AdrianaRibas, JesúsCastellote Alonso, JoséPintó Sala, XavierRiera Mestre, AntoniTelangiectasia hemorràgica hereditàriaEncefalopatia hepàticaMalalties raresMalformacions PortosistèmiquesHereditary hemorrhagic telangiectasiaHepatic encephalopathyRare diseasesPortosystemic malformationsBackgroundHereditary hemorrhagic telangiectasia (HHT) is characterized by telangiectasia and larger vascular malformations. Liver malformations are the most frequent visceral involvement including the presence of portosystemic malformations (PSM) that can cause hepatic encephalopathy. Minimal hepatic encephalopathy (mHE) is characterized by alterations of brain function in neuropsychological or neurophysiological tests and decreases quality of life. The evidence of mHE in HHT patients is scarce. The aim of this study is to assess the prevalence and health impact of mHE in patients with and without PSM.MethodsWe performed a cross-sectional observational study in a cohort of patients from an HHT referral unit. Adult patients with definite HHT and PSM and age and sex matched HHT controls without PSM (1:1) were included. Baseline clinical, imaging and laboratory tests and different neuropsychological tests for the screening of mHE were compared between both groups.ResultsEighteen patients with PSM and 18 controls out of 430 HHT patients were included. Patients with PSM showed higher prevalence of attention disturbances (50% vs. 11.1%, p = 0.027), falls during last 12 months (22.2% vs. 5.6%, p = 0.338), sleep disorders (50% vs. 16.7%, p = 0.075) and a worst performance in s-ANT1 test (14 vs. 19.5 points score, p = 0.739) than HHT controls.ConclusionsHHT patients with PSM showed higher attention difficulties than HHT controls, though both PSM and HHT controls showed findings of mHE. Specific neuropsychological tests for early detection of mHE should be considered in HHT patients.Springer Science and Business Media LLC2025202520242025info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion9 p.application/pdfhttps://hdl.handle.net/2445/218890Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: https://doi.org/10.1186/s13023-024-03493-3Orphanet Journal of Rare Diseases, 2024, vol. 19, issue. 1https://doi.org/10.1186/s13023-024-03493-3cc by (c) Villanueva, Bernat et al, 2024http://creativecommons.org/licenses/by/3.0/es/info:eu-repo/semantics/openAccessoai:recercat.cat:2445/2188902026-05-29T05:05:01Z
dc.title.none.fl_str_mv Minimal encephalopathy in hereditary hemorrhagic telangiectasia patients with portosystemic vascular malformations
title Minimal encephalopathy in hereditary hemorrhagic telangiectasia patients with portosystemic vascular malformations
spellingShingle Minimal encephalopathy in hereditary hemorrhagic telangiectasia patients with portosystemic vascular malformations
Villanueva, Bernat
Telangiectasia hemorràgica hereditària
Encefalopatia hepàtica
Malalties rares
Malformacions Portosistèmiques
Hereditary hemorrhagic telangiectasia
Hepatic encephalopathy
Rare diseases
Portosystemic malformations
title_short Minimal encephalopathy in hereditary hemorrhagic telangiectasia patients with portosystemic vascular malformations
title_full Minimal encephalopathy in hereditary hemorrhagic telangiectasia patients with portosystemic vascular malformations
title_fullStr Minimal encephalopathy in hereditary hemorrhagic telangiectasia patients with portosystemic vascular malformations
title_full_unstemmed Minimal encephalopathy in hereditary hemorrhagic telangiectasia patients with portosystemic vascular malformations
title_sort Minimal encephalopathy in hereditary hemorrhagic telangiectasia patients with portosystemic vascular malformations
dc.creator.none.fl_str_mv Villanueva, Bernat
Cañabate, A.
Torres Iglesias, Raquel
Cerdà, Pau
Gamundí, Enric
Ordi, Q.
Alba, Esther
Sanz Astier, L. A.
Iriarte, Adriana
Ribas, Jesús
Castellote Alonso, José
Pintó Sala, Xavier
Riera Mestre, Antoni
author Villanueva, Bernat
author_facet Villanueva, Bernat
Cañabate, A.
Torres Iglesias, Raquel
Cerdà, Pau
Gamundí, Enric
Ordi, Q.
Alba, Esther
Sanz Astier, L. A.
Iriarte, Adriana
Ribas, Jesús
Castellote Alonso, José
Pintó Sala, Xavier
Riera Mestre, Antoni
author_role author
author2 Cañabate, A.
Torres Iglesias, Raquel
Cerdà, Pau
Gamundí, Enric
Ordi, Q.
Alba, Esther
Sanz Astier, L. A.
Iriarte, Adriana
Ribas, Jesús
Castellote Alonso, José
Pintó Sala, Xavier
Riera Mestre, Antoni
author2_role author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Telangiectasia hemorràgica hereditària
Encefalopatia hepàtica
Malalties rares
Malformacions Portosistèmiques
Hereditary hemorrhagic telangiectasia
Hepatic encephalopathy
Rare diseases
Portosystemic malformations
topic Telangiectasia hemorràgica hereditària
Encefalopatia hepàtica
Malalties rares
Malformacions Portosistèmiques
Hereditary hemorrhagic telangiectasia
Hepatic encephalopathy
Rare diseases
Portosystemic malformations
description BackgroundHereditary hemorrhagic telangiectasia (HHT) is characterized by telangiectasia and larger vascular malformations. Liver malformations are the most frequent visceral involvement including the presence of portosystemic malformations (PSM) that can cause hepatic encephalopathy. Minimal hepatic encephalopathy (mHE) is characterized by alterations of brain function in neuropsychological or neurophysiological tests and decreases quality of life. The evidence of mHE in HHT patients is scarce. The aim of this study is to assess the prevalence and health impact of mHE in patients with and without PSM.MethodsWe performed a cross-sectional observational study in a cohort of patients from an HHT referral unit. Adult patients with definite HHT and PSM and age and sex matched HHT controls without PSM (1:1) were included. Baseline clinical, imaging and laboratory tests and different neuropsychological tests for the screening of mHE were compared between both groups.ResultsEighteen patients with PSM and 18 controls out of 430 HHT patients were included. Patients with PSM showed higher prevalence of attention disturbances (50% vs. 11.1%, p = 0.027), falls during last 12 months (22.2% vs. 5.6%, p = 0.338), sleep disorders (50% vs. 16.7%, p = 0.075) and a worst performance in s-ANT1 test (14 vs. 19.5 points score, p = 0.739) than HHT controls.ConclusionsHHT patients with PSM showed higher attention difficulties than HHT controls, though both PSM and HHT controls showed findings of mHE. Specific neuropsychological tests for early detection of mHE should be considered in HHT patients.
publishDate 2024
dc.date.none.fl_str_mv 2024
2025
2025
2025
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/218890
url https://hdl.handle.net/2445/218890
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1186/s13023-024-03493-3
Orphanet Journal of Rare Diseases, 2024, vol. 19, issue. 1
https://doi.org/10.1186/s13023-024-03493-3
dc.rights.none.fl_str_mv cc by (c) Villanueva, Bernat et al, 2024
http://creativecommons.org/licenses/by/3.0/es/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc by (c) Villanueva, Bernat et al, 2024
http://creativecommons.org/licenses/by/3.0/es/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 9 p.
application/pdf
dc.publisher.none.fl_str_mv Springer Science and Business Media LLC
publisher.none.fl_str_mv Springer Science and Business Media LLC
dc.source.none.fl_str_mv Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,812429

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