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Article

Diagnosis of Familial Hypercholesterolemia in Children: From Clinical Features Through Gene Variants to Polygenic Score.

Genes - 26 Feb 2026

Buganza Raffaele, Nobili Cecilia, Massini Giulia, Cardiero Giovanna, Di Taranto Maria Donata, de Sanctis Luisa, Guardamagna Ornella

Abstract excerpt

BACKGROUND: Early diagnosis of familial hypercholesterolemia (FH) is crucial to improve long-term outcomes. FH diagnosis relies on elevated low-density lipoprotein cholesterol (LDL-C) levels, familial clinical characteristics, and identification of pathogenic variants in FH-related genes. Secondary factors, such as overweight and obesity, are known to influence lipid profiles in the general population. More...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41898801
DOI: 10.3390/genes17030267
PMCID: PMC13025718

Genes

FH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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