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Article

The Spectrum of Genetic Causes of Familial Hypercholesterolemia Phenotype.

Current atherosclerosis reports - 4 Jul 2026

Bourbon M, Alves A C, Chora J R, Hooper A J, Abifadel M

Abstract excerpt

PURPOSE OF REVIEW: This paper reviews the genetic spectrum underlying the Familial Hypercholesterolemia (FH) phenotype, aiming to improve diagnosis, awareness and understanding of these inherited lipid disorders. RECENT FINDINGS: Although genetic testing for FH has traditionally targeted LDLR, APOB, and PCSK9, the adoption of an expanded eight-gene sequencing panel is now recommended. This broader approach...

Topics

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APOB gene
FH gene
Genetic Predisposition to Disease
Genetic Testing
Hyperlipoproteinemia Type II

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Proprotein Convertase 9

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Open in PubMed Open full text

Identifiers

PMID: 42400862
DOI: 10.1007/s11883-026-01435-x
PMCID: PMC13332989

Genes

FH
LDLR
APOB
PCSK9
APOE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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