Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease

Cholesterol is an essential component of cell barrier formation and signaling transduction involved in many essential physiologic processes. For this reason, cholesterol metabolism must be tightly controlled. Cell cholesterol is mainly acquired from two sources: Dietary cholesterol, which is absorbe...

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Autores: Benito-Vicente, Asier, Uribe, Kepa B., Jebari-Benslaiman, Shifa, Galicia-García, Unai, Ostolaza, Helena, Martín, César
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2018
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/397583
Acceso en línea:http://hdl.handle.net/10261/397583
https://api.elsevier.com/content/abstract/scopus_id/85056043011
Access Level:acceso abierto
Palabra clave:Cholesterol
Familial hypercholesterolemia
Metabolism
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spelling Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused DiseaseBenito-Vicente, AsierUribe, Kepa B.Jebari-Benslaiman, ShifaGalicia-García, UnaiOstolaza, HelenaMartín, CésarCholesterolFamilial hypercholesterolemiaMetabolismCholesterol is an essential component of cell barrier formation and signaling transduction involved in many essential physiologic processes. For this reason, cholesterol metabolism must be tightly controlled. Cell cholesterol is mainly acquired from two sources: Dietary cholesterol, which is absorbed in the intestine and, intracellularly synthesized cholesterol that is mainly synthesized in the liver. Once acquired, both are delivered to peripheral tissues in a lipoprotein dependent mechanism. Malfunctioning of cholesterol metabolism is caused by multiple hereditary diseases, including Familial Hypercholesterolemia, Sitosterolemia Type C and Niemann-Pick Type C1. Of these, familial hypercholesterolemia (FH) is a common inherited autosomal co-dominant disorder characterized by high plasma cholesterol levels. Its frequency is estimated to be 1:200 and, if untreated, increases the risk of premature cardiovascular disease. This review aims to summarize the current knowledge on cholesterol metabolism and the relation of FH to cholesterol homeostasis with special focus on the genetics, diagnosis and treatment.This work was supported by ELKARTEK 2016 and the Basque Government (Grupos Consolidados IT849-13). A.B.-V. and S.J. were supported by a grant PIF (2014–2015) and (2018–2021), Gobierno Vasco respectively.Peer reviewedMultidisciplinary Digital Publishing InstituteEusko JaurlaritzaConsejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]202520252018info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_dcae04bcPublisher's versioninfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/10261/397583https://api.elsevier.com/content/abstract/scopus_id/85056043011reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)Ingléshttps://doi.org/10.3390/ijms19113426Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/3975832026-05-22T06:33:51Z
dc.title.none.fl_str_mv Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease
title Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease
spellingShingle Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease
Benito-Vicente, Asier
Cholesterol
Familial hypercholesterolemia
Metabolism
title_short Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease
title_full Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease
title_fullStr Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease
title_full_unstemmed Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease
title_sort Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease
dc.creator.none.fl_str_mv Benito-Vicente, Asier
Uribe, Kepa B.
Jebari-Benslaiman, Shifa
Galicia-García, Unai
Ostolaza, Helena
Martín, César
author Benito-Vicente, Asier
author_facet Benito-Vicente, Asier
Uribe, Kepa B.
Jebari-Benslaiman, Shifa
Galicia-García, Unai
Ostolaza, Helena
Martín, César
author_role author
author2 Uribe, Kepa B.
Jebari-Benslaiman, Shifa
Galicia-García, Unai
Ostolaza, Helena
Martín, César
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv Eusko Jaurlaritza
Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv Cholesterol
Familial hypercholesterolemia
Metabolism
topic Cholesterol
Familial hypercholesterolemia
Metabolism
description Cholesterol is an essential component of cell barrier formation and signaling transduction involved in many essential physiologic processes. For this reason, cholesterol metabolism must be tightly controlled. Cell cholesterol is mainly acquired from two sources: Dietary cholesterol, which is absorbed in the intestine and, intracellularly synthesized cholesterol that is mainly synthesized in the liver. Once acquired, both are delivered to peripheral tissues in a lipoprotein dependent mechanism. Malfunctioning of cholesterol metabolism is caused by multiple hereditary diseases, including Familial Hypercholesterolemia, Sitosterolemia Type C and Niemann-Pick Type C1. Of these, familial hypercholesterolemia (FH) is a common inherited autosomal co-dominant disorder characterized by high plasma cholesterol levels. Its frequency is estimated to be 1:200 and, if untreated, increases the risk of premature cardiovascular disease. This review aims to summarize the current knowledge on cholesterol metabolism and the relation of FH to cholesterol homeostasis with special focus on the genetics, diagnosis and treatment.
publishDate 2018
dc.date.none.fl_str_mv 2018
2025
2025
dc.type.none.fl_str_mv info:eu-repo/semantics/article
http://purl.org/coar/resource_type/c_dcae04bc
Publisher's version
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/397583
https://api.elsevier.com/content/abstract/scopus_id/85056043011
url http://hdl.handle.net/10261/397583
https://api.elsevier.com/content/abstract/scopus_id/85056043011
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv https://doi.org/10.3390/ijms19113426
Sí
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Multidisciplinary Digital Publishing Institute
publisher.none.fl_str_mv Multidisciplinary Digital Publishing Institute
dc.source.none.fl_str_mv reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC
instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str Consejo Superior de Investigaciones Científicas (CSIC)
reponame_str DIGITAL.CSIC. Repositorio Institucional del CSIC
collection DIGITAL.CSIC. Repositorio Institucional del CSIC
repository.name.fl_str_mv
repository.mail.fl_str_mv
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