Logo do repositório
 
Publicação

Familial Hypercholesterolaemia In Children And Adolescents: A European Atherosclerosis Society Consensus Statement

2026-05-25Artigo científico Acesso aberto
Ver registo simples
datacite.subject.fosCiências Médicas
dc.contributor.authorWiegman, Albert
dc.contributor.authorBourbon, Mafalda
dc.contributor.authorFreiberger, Tomas
dc.contributor.authorGidding, Samuel S
dc.contributor.authorGreber-Platzer, Susanne
dc.contributor.authorGroselj, Urh
dc.contributor.authorHolven, Kirsten B.
dc.contributor.authorHudgins, Lisa C.
dc.contributor.authorHumphries, Steve E.
dc.contributor.authorHutten, Barbara A.
dc.contributor.authorIbarretxe, Daiana
dc.contributor.authorPederiva, Cristina
dc.contributor.authorPeretti, Noel
dc.contributor.authorRaal, Frederick J.
dc.contributor.authorRamaswami, Uma
dc.contributor.authorSanin, Veronika
dc.contributor.authorSantos, Raul D.
dc.contributor.authorSteinhagen-Thiessen, Elisabeth
dc.contributor.authorWatts, Gerald F.
dc.contributor.authorPerkins, Rosie
dc.contributor.authorBenn, Marianne
dc.contributor.authorBinder, Christoph J.
dc.contributor.authorRomeo, Stefano
dc.contributor.authorLennep, Jeanine E. Roeters van
dc.date.accessioned2026-07-06T14:08:22Z
dc.date.available2026-07-06T14:08:22Z
dc.date.issued2026-05-25
dc.description.abstractFamilial hypercholesterolaemia (FH) is a common genetic disorder characterized by lifelong elevated LDL cholesterol (LDL-C) concentrations. FH exists in two forms: heterozygous FH (HeFH), which affects around 1 in 300 people worldwide, and homozygous FH (HoFH), which affects around 1 in 300 000. Individuals with FH are at increased risk of premature atherosclerotic cardiovascular disease (ASCVD) and death, and those with HoFH are, if untreated, at extreme risk of ASCVD manifestations even before adulthood. Early diagnosis and treatment in childhood can extend or normalize life expectancy, but limited awareness, underdiagnosis, and undertreatment remain major challenges. This consensus statement aims to address these challenges, supported by increased knowledge of the pathogenesis of FH and the availability of an increasing range of lipid-lowering therapies (LLTs) that can be used from early ages. To increase the detection rate of FH, all countries are encouraged to establish a paediatric screening programme and, given that current diagnostic criteria often fail to identify children with an FH-causing genetic variant, revised diagnostic criteria are presented. Updated LDL-C treatment goals are proposed, and the importance of starting LLTs before puberty in children with HeFH, and, if needed, from 6 years, is highlighted. Guidance on how to manage FH is provided, including treatment algorithms for use in children with either HeFH or HoFH and a discussion on how to promote a smooth transition to adult care. Early detection and optimal treatment as advocated in this consensus statement are crucial to improving life expectancy for children and adolescents with FH.eng
dc.description.sponsorshipWe acknowledge Chiesi Farmaceutici, Sanofi-Aventis Groupe, and Ultragenyx Europe for their support through unrestricted educational grants to the European Atherosclerosis Society
dc.identifier.citationEur Heart J. 2026 May 25:ehag382. doi: 10.1093/eurheartj/ehag382. Online ahead of print
dc.identifier.doi10.1093/eurheartj/ehag382
dc.identifier.eissn1522-9645
dc.identifier.issn0195-668X
dc.identifier.pmid42179051
dc.identifier.urihttp://hdl.handle.net/10400.18/11333
dc.language.isoeng
dc.peerreviewedyes
dc.publisherOxford University Press
dc.relation.hasversionhttps://academic.oup.com/eurheartj/advance-article/doi/10.1093/eurheartj/ehag382/8691080
dc.relation.ispartofEuropean Heart Journal
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/
dc.subjectAdolescents
dc.subjectCardiovascular Risk
dc.subjectChildren
dc.subjectCumulative Low-Density Lipoprotein Cholesterol Exposure
dc.subjectFamilial Hypercholesterolaemia
dc.subjectLipid-Lowering Therapy
dc.subjectDoenças Cardio e Cérebro-vasculares
dc.titleFamilial Hypercholesterolaemia In Children And Adolescents: A European Atherosclerosis Society Consensus Statementeng
dc.typejournal article
dcterms.referenceshttps://oup.silverchair-cdn.com/oup/backfile/Content_public/Journal/eurheartj/PAP/10.1093_eurheartj_ehag382/1/ehag382_supplementary_data.docx?Expires=1785481434&Signature=XDesfQhfXEyZbaj~sYE1~m62VTJzo6FoegMtF3~r4H14-67Boj2AXmK9DlI8JqEvYoEcVAl3S~BXEcXR8LkwaQuskoBd3AtlQRqkI9L6tnBLeknYeuQih8bIShu557EDf30gYEg-3GzQ-opiV6RZbc98vlf4zN9n0hBb-Lkr87N04YQKFUYc6peWKD4dprqFTDKvZXaCVByyqCd1AmgaTeEsOY74kmPle732gZ7jF6cXm1yijnVmDdkWjctoIwYLEgapcYUj43w1QnNDWZ6C9~cUSolp7yDyuYfAiogSlZsY4O5wAlxs7DSIzI~wpyzDJbyOOZELaOXmUuPjqgZlGQ__&Key-Pair-Id=APKAIE5G5CRDK6RD3PGA
dcterms.referenceshttps://oup.silverchair-cdn.com/oup/backfile/Content_public/Journal/eurheartj/PAP/10.1093_eurheartj_ehag382/1/ehag382_supplementary_data.docx?Expires=1785493771&Signature=YMr-WLHUZ4YzQjd7r5cYY1y9n-gmH-xUvU2pGqwygmEQK5hEvzASnBpAz5xNsE7ks5FzIh0W5qNbA4fvNJ3Uq1OJyYbYYOFG1o1lZvmOkiZybYDHd41zXn0Vu~711R8tjQpkALIO~MPDTEkradoKj56XIA3aLRJHjOn2tOke3scOmFK722rP2wsJNaFs43JwZK9ph497jEXnT29EhMUmkqkOyel5LB8FgKWvDYUqeha20wV0qfF~gvdUwZuQZBKdjk6WzJFrIGa8Volg7lfdNWZHcNRUB8IecdU-adjPZWvgeBsllypU08SiXBodA4zO5gMlyHLkVtdwlKSoBC5KZQ__&Key-Pair-Id=APKAIE5G5CRDK6RD3PGA
dspace.entity.typePublication
oaire.citation.startPageehag382
oaire.citation.titleEuropean Heart Journal
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85

Ficheiros

Principais
A mostrar 1 - 1 de 1
Miniatura indisponível
Nome:
ehag382.pdf
Tamanho:
1.55 MB
Formato:
Adobe Portable Document Format
Ver/Abrir
Licença
A mostrar 1 - 1 de 1
Miniatura indisponível
Nome:
license.txt
Tamanho:
4.03 KB
Formato:
Item-specific license agreed upon to submission
Descrição:
Ver/Abrir

Coleções

DPSPDNT - Artigos em revistas internacionais
INSA - Artigos em revistas internacionais