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Naslov:Familial hypercholesterolaemia in children and adolescents : a European Atherosclerosis Society consensus statement
Avtorji:ID Wiegman, Albert (Avtor)
ID Bourbon, Mafalda (Avtor)
ID Freiberger, Tomas (Avtor)
ID Gidding, Samuel S. (Avtor)
ID Greber-Platzer, Susanne (Avtor)
ID Grošelj, Urh (Avtor)
ID Holven, Kirsten B. (Avtor)
ID Cooper Hudgins, Lisa (Avtor)
ID Humphries, Steve E. (Avtor), et al.
Datoteke:.pdf PDF - Predstavitvena datoteka, prenos (1,65 MB)
MD5: B606D21CCADD46C233F1195E341B57B7
 
URL URL - Izvorni URL, za dostop obiščite https://academic.oup.com/eurheartj/article/47/26/3324/8691080
 
Jezik:Angleški jezik
Tipologija:1.01 - Izvirni znanstveni članek
Organizacija:Logo UKC LJ - Univerzitetni klinični center Ljubljana
Povzetek:Familial 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.
Ključne besede:familial hypercholesterolaemia, children, lipid-lowering therapy, cumulative lowdensity lipoprotein cholesterol exposure, cardiovascular risk, adolescents
Status publikacije:Objavljeno
Verzija publikacije:Objavljena publikacija
Leto izida:2026
Št. strani:str. 3324-3346
Številčenje:Vol. 47, issue 26
PID:20.500.12556/DiRROS-31305 Novo okno
UDK:61
ISSN pri članku:1522-9645
DOI:10.1093/eurheartj/ehag382 Novo okno
COBISS.SI-ID:280095491 Novo okno
Opomba:Nasl. z nasl. zaslona; Opis vira z dne 2. 6. 2026;
Datum objave v DiRROS:27.07.2026
Število ogledov:59
Število prenosov:45
Metapodatki:XML DC-XML DC-RDF
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Gradivo je del revije

Naslov:European heart journal
Skrajšan naslov:Eur. heart j.
Založnik:Harcourt, Oxford University Press
ISSN:1522-9645
COBISS.SI-ID:515374105 Novo okno

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Licenca:CC BY-NC 4.0, Creative Commons Priznanje avtorstva-Nekomercialno 4.0 Mednarodna
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