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Article

The severe hypercholesterolemia phenotype: clinical diagnosis, management, and emerging therapies.

Journal of the American College of Cardiology - 20 May 2014

Sniderman Allan D, Tsimikas Sotirios, Fazio Sergio

Abstract excerpt

The severe hypercholesterolemia phenotype includes all patients with marked elevation of low-density lipoprotein cholesterol (LDL-C) levels. The most common cause is autosomal dominant hypercholesterolemia, an inherited disorder caused by mutations either in LDL receptor, apolipoprotein B (APOB), or proprotein convertase subtilisin kexin type 9 (PCSK9) genes. However, it is now known that many subjects with...

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Source

Identifiers

PMID: 24632267
DOI: 10.1016/j.jacc.2014.01.060

Genes

APOB
CAD
PCSK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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