Evidence map›Paper›PMID 42183182›Full record

ArticleAtherosclerosis plus2026

Parallel screening strategies reveal distinct phenotypic and genotypic profiles of familial hypercholesterolemia in children and adults.

Jaka Sikonja, Urska Intihar, Borut Jug, Neza Salobir, Katarina Trebusak Podkrajsek, Matija Cevc, Nina Dordevic, Jan Kafol, Tevz Gorjanc, Matej Mlinaric and 5 more

Abstract read
In one paragraph

Article in Atherosclerosis plus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

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4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

15 authors.

Jaka SikonjaDepartment of Endocrinology, Diabetes and Metabolic Diseases, Division of Internal Medicine, University Medical Centre Ljubljana, Zaloska 7, Ljubljana, 1000, Slovenia.
Urska IntiharDepartment of Cardiac Surgery, UMC Maribor, Ljubljanska 5, Maribor, 2000, Slovenia.
Borut JugFaculty of Medicine, University of Ljubljana, Vrazov trg 2, Ljubljana, 1000, Slovenia.
Neza SalobirCommunity Health Centre Ljubljana, Derceva ulica 5, Ljubljana, 1000, Slovenia.
Katarina Trebusak PodkrajsekClinical Institute for Special Laboratory Diagnostics, University Children's Hospital, UMC Ljubljana, Vrazov trg 1, Ljubljana, Slovenia.
Matija CevcDepartment of Vascular Diseases, Division of Medicine, UMC Ljubljana, Zaloska 7, Ljubljana, 1000, Slovenia.
Nina DordevicFaculty of Medicine, University of Ljubljana, Vrazov trg 2, Ljubljana, 1000, Slovenia.
Jan KafolFaculty of Medicine, University of Ljubljana, Vrazov trg 2, Ljubljana, 1000, Slovenia.
Tevz GorjancFaculty of Medicine, University of Ljubljana, Vrazov trg 2, Ljubljana, 1000, Slovenia.
Matej MlinaricDepartment of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, UMC Ljubljana, Bohoriceva 20, Ljubljana, Slovenia.
Barbara Cugalj KernFaculty of Medicine, University of Ljubljana, Vrazov trg 2, Ljubljana, 1000, Slovenia.
Jernej KovacFaculty of Medicine, University of Ljubljana, Vrazov trg 2, Ljubljana, 1000, Slovenia.
Tadej BattelinoFaculty of Medicine, University of Ljubljana, Vrazov trg 2, Ljubljana, 1000, Slovenia.
Zlatko FrasFaculty of Medicine, University of Ljubljana, Vrazov trg 2, Ljubljana, 1000, Slovenia.
Urh GroseljFaculty of Medicine, University of Ljubljana, Vrazov trg 2, Ljubljana, 1000, Slovenia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Multiple familial hypercholesterolemia (FH) screening strategies are recommended, but how they work together within a population remains poorly understood. Here, we aimed to compare the characteristics of children diagnosed through a universal screening program with those of adults identified through opportunistic screening. Methods: In this retrospective cross-sectional study, we analyzed the clinical and genetic characteristics of children and adults with genetically confirmed heterozygous FH (HeFH). Results: Out of 442 children and 299 adults with a definite or probable FH based on clinical criteria, 39 (13.0%) adults and 197 (44.6%) children had also a genetic HeFH. FH causative variants were present in low-density lipoprotein receptor ( Conclusions: Our study suggests that opportunistic adult screening identifies more severe FH phenotypes, while universal pediatric screening detects milder cases.

Indexed as

AdultsChildrenFamilial hypercholesterolemiaGeneticsOpportunistic screeningUniversal screening

Identifiers

PMID42183182
PMCPMC13196385

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.