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Article

Assessment of LDL receptor-dependent lipid lowering therapies in patients with homozygous familial hypercholesterolemia according to functional genotype.

Atherosclerosis - 1 Mar 2026

Mancini G B John, Ryomoto Arnold, Ruel Isabelle, Iatan Iulia, Genest Jacques, Raal Frederick J, Santos Raul D, Marte Ana Paula, Kennedy Brooke A, Brunham Liam R, Gaudet Daniel, Larouche Miriam, Brisson Diane, Hegele Robert A

Abstract excerpt

BACKGROUND AND AIMS: Patients with homozygous familial hypercholesterolemia (HoFH) respond to standard lipid lowering therapy (LLT) poorly due to biallelic abnormalities affecting low-density lipoprotein receptor (LDLR) function. Relatively little information stratified by functional genotyping is available. METHODS: We evaluated lowering of low-density lipoprotein cholesterol (LDL-C) with statins, statins plus...

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Share to Anticholesteremic Agents
Share to Cholesterol, LDL

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hydroxymethylglutaryl-CoA Reductase Inhibitors

Share to Hyperlipoproteinemia Type II

Share to Proprotein Convertase 9

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Source

Identifiers

PMID: 41643340
DOI: 10.1016/j.atherosclerosis.2026.120646

Genes

LDLR
PCSK9

Provenance

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

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