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Article

Update on genetics of familial hypercholesterolemia.

Current opinion in lipidology - 1 Apr 2026

Freiberger Tomas

Abstract excerpt

PURPOSE OF REVIEW: Familial hypercholesterolemia is a monogenic Mendelian disorder characterized by elevated LDL cholesterol and premature atherosclerotic cardiovascular disease. It is caused by pathogenic variants in LDLR , APOB , and PCSK9 , with rarer involvement of LDLRAP1 and APOE . Despite advances in molecular diagnostics, no causative variant is identified in approximately 25-75% of clinically diagnosed...

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Topics

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Share to PCSK9 gene
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Source

Identifiers

PMID: 41703706
DOI: 10.1097/MOL.0000000000001027

Genes

APOB
LDLR
APOE
LDLRAP1
PCSK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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