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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...

Read the complete abstract on PubMed

Topics

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Share to Adaptor Proteins, Signal Transducing
Share to Antibodies, Monoclonal

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cholesterol, LDL

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Share to Hydroxymethylglutaryl-CoA Reductase Inhibitors

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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 16 Oct 2026.

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