Familial Hypercholesterolemia

Cardiovascular disease (CVD) in heterozygous familial hypercholesterolemia (HeFH), the most frequent monogenic disorder of human metabolism, is largely driven by low-density lipoprotein (LDL) cholesterol concentrations. Since the CVD rate differs considerably in this population, beyond the lifetime...

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Autores: Pedro Botet Montoya, Juan|||0000-0001-7366-6821, Climent, Elisenda|||0000-0001-6831-8224, Benaiges, David|||0000-0001-5411-364X
Tipo de recurso: artículo
Fecha de publicación:2021
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:293133
Acceso en línea:https://ddd.uab.cat/record/293133
https://dx.doi.org/urn:doi:10.3390/biomedicines9070810
Access Level:acceso abierto
Palabra clave:Cardiovascular disease
Epigenetics
Familial hypercholesterolemia
Genetics
HDL functionality
High density lipoproteins
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spelling Familial HypercholesterolemiaDo HDL Play a Role?Pedro Botet Montoya, Juan|||0000-0001-7366-6821Climent, Elisenda|||0000-0001-6831-8224Benaiges, David|||0000-0001-5411-364XCardiovascular diseaseEpigeneticsFamilial hypercholesterolemiaGeneticsHDL functionalityHigh density lipoproteinsCardiovascular disease (CVD) in heterozygous familial hypercholesterolemia (HeFH), the most frequent monogenic disorder of human metabolism, is largely driven by low-density lipoprotein (LDL) cholesterol concentrations. Since the CVD rate differs considerably in this population, beyond the lifetime LDL cholesterol vascular accumulation, other classical risk factors are involved in the high cardiovascular risk of HeFH. Among other lipoprotein disturbances, alterations in the phenotype and functionality of high-density lipoproteins (HDL) have been described in HeFH patients, contributing to the presence and severity of CVD. In fact, HDL are the first defensive barrier against the burden of high LDL cholesterol levels owing to their contribution to reverse cholesterol transport as well as their antioxidant and anti-inflammatory properties, among others. In this context, the present narrative review aimed to focus on quantitative and qualitative abnormalities in HDL particles in HeFH, encompassing metabolic, genetic and epigenetic aspects.Universitat Autònoma de Barcelona 22021-01-0120212021-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/293133https://dx.doi.org/urn:doi:10.3390/biomedicines9070810reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengopen accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:2931332026-06-06T12:50:31Z
dc.title.none.fl_str_mv Familial Hypercholesterolemia
Do HDL Play a Role?
title Familial Hypercholesterolemia
spellingShingle Familial Hypercholesterolemia
Pedro Botet Montoya, Juan|||0000-0001-7366-6821
Cardiovascular disease
Epigenetics
Familial hypercholesterolemia
Genetics
HDL functionality
High density lipoproteins
title_short Familial Hypercholesterolemia
title_full Familial Hypercholesterolemia
title_fullStr Familial Hypercholesterolemia
title_full_unstemmed Familial Hypercholesterolemia
title_sort Familial Hypercholesterolemia
dc.creator.none.fl_str_mv Pedro Botet Montoya, Juan|||0000-0001-7366-6821
Climent, Elisenda|||0000-0001-6831-8224
Benaiges, David|||0000-0001-5411-364X
author Pedro Botet Montoya, Juan|||0000-0001-7366-6821
author_facet Pedro Botet Montoya, Juan|||0000-0001-7366-6821
Climent, Elisenda|||0000-0001-6831-8224
Benaiges, David|||0000-0001-5411-364X
author_role author
author2 Climent, Elisenda|||0000-0001-6831-8224
Benaiges, David|||0000-0001-5411-364X
author2_role author
author
dc.contributor.none.fl_str_mv Universitat Autònoma de Barcelona
dc.subject.none.fl_str_mv Cardiovascular disease
Epigenetics
Familial hypercholesterolemia
Genetics
HDL functionality
High density lipoproteins
topic Cardiovascular disease
Epigenetics
Familial hypercholesterolemia
Genetics
HDL functionality
High density lipoproteins
description Cardiovascular disease (CVD) in heterozygous familial hypercholesterolemia (HeFH), the most frequent monogenic disorder of human metabolism, is largely driven by low-density lipoprotein (LDL) cholesterol concentrations. Since the CVD rate differs considerably in this population, beyond the lifetime LDL cholesterol vascular accumulation, other classical risk factors are involved in the high cardiovascular risk of HeFH. Among other lipoprotein disturbances, alterations in the phenotype and functionality of high-density lipoproteins (HDL) have been described in HeFH patients, contributing to the presence and severity of CVD. In fact, HDL are the first defensive barrier against the burden of high LDL cholesterol levels owing to their contribution to reverse cholesterol transport as well as their antioxidant and anti-inflammatory properties, among others. In this context, the present narrative review aimed to focus on quantitative and qualitative abnormalities in HDL particles in HeFH, encompassing metabolic, genetic and epigenetic aspects.
publishDate 2021
dc.date.none.fl_str_mv 2
2021-01-01
2021
2021-01-01
dc.type.none.fl_str_mv Article
http://purl.org/coar/resource_type/c_6501
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://ddd.uab.cat/record/293133
https://dx.doi.org/urn:doi:10.3390/biomedicines9070810
url https://ddd.uab.cat/record/293133
https://dx.doi.org/urn:doi:10.3390/biomedicines9070810
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Dipòsit Digital de Documents de la UAB
instname:Universitat Autònoma de Barcelona
instname_str Universitat Autònoma de Barcelona
reponame_str Dipòsit Digital de Documents de la UAB
collection Dipòsit Digital de Documents de la UAB
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