Diagnosis of Familial Hypercholesterolemia in Children: From Clinical Features Through Gene Variants to Polygenic Score
In children selected by LDL-C ≥ 95th percentile, together with autosomal dominant familial hypercholesterolemia, genetic confirmation of FH is achieved in the vast majority of cases. Variant type (null vs. defective), BMI, and polygenic background contribute to phenotypic heterogeneity, supporting the need to address other factors alongside genetic diagnosis. Further validation is needed before polygenic scores can be implemented in routine clinical practice.
Authors
- Ornella Guardamagna (ORCID: https://orcid.org/0000-0003-3137-5916)
- Maria Donata Di Taranto (ORCID: https://orcid.org/0000-0002-0618-7940)
- Giovanna Cardiero (ORCID: https://orcid.org/0009-0009-5615-298X)
- Raffaele Buganza (ORCID: https://orcid.org/0000-0003-1850-2300)
- Cecilia Nobili (ORCID: https://orcid.org/0009-0001-5112-8982)
- Giulia Massini
Institutions
- CEINGE Biotecnologie Avanzate Franco Salvatore (Italy) (IT)
- Ospedale Regina Margherita (IT)
- University of Naples Federico II (IT)
Publication Details
- Journal
- Genes
- Published
- 2026-02-26
- DOI
- https://doi.org/10.3390/genes17030267
- Primary Topic
- Lipoproteins and Cardiovascular Health
- Type
- article
- Field-Weighted Citation Impact
- 0.00