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Article

Management of autosomal recessive hypercholesterolemia in a patient with an LDLRAP1 mutation.

Journal of clinical lipidology - 1 Aug 2026

Ugoala Onyinye, Monene Brandilyn, Tavanaei Neeka, Kulkarni Anandita

Abstract excerpt

Familial hypercholesterolemia (FH) is characterized by a lifelong elevation of low-density lipoprotein cholesterol (LDL-C), conferring an increased risk of premature atherosclerotic disease and its associated burden of morbidity and mortality. Autosomal recessive hypercholesterolemia (ARH) is a rare form of homozygous FH (HoFH) and is a distinct subset caused by mutations in the low-density lipoprotein receptor...

Topics

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Adaptor Proteins, Signal Transducing
Antibodies, Monoclonal
Cholesterol, LDL
FH gene
Hydroxymethylglutaryl-CoA Reductase Inhibitors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hyperlipoproteinemia Type II

Source

Identifiers

PMID: 42336686
DOI: 10.1016/j.jacl.2026.05.243

Genes

LDLRAP1
FH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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