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Article

Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?

Journal of the American Heart Association - 18 Jun 2024

Stevens Christophe A T, Vallejo-Vaz Antonio J, Chora Joana R, Barkas Fotis, Brandts Julia, Mahani Alireza, Abar Leila, Sharabiani Mansour T A, Ray Kausik K

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH), while highly prevalent, is a significantly underdiagnosed monogenic disorder. Improved detection could reduce the large number of cardiovascular events attributable to poor case finding. We aimed to assess whether machine learning algorithms outperform clinical diagnostic criteria (signs, history, and biomarkers) and the recommended screening criteria in the United...

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Share to Apolipoprotein B-100
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperlipoproteinemia Type II

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Share to Proprotein Convertase 9

Share to Receptors, LDL

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Identifiers

PMID: 38879446
DOI: 10.1161/JAHA.123.034434
PMCID: PMC11255759

Genes

FH
APOB
LDLR
PCSK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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