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Article

A case of autosomal recessive hypercholesterolemia responsive to proprotein convertase subtilisin/kexin 9 inhibition.

Journal of clinical lipidology - 1 Jan 2000

Fahy Eoin Francis, McCarthy Elaine, Steinhagen-Thiessen Elisabeth, Vaughan Carl J

Abstract excerpt

We report the first case of hypercholesterolemia due to autosomal recessive hyperlipidemia caused by LDLRAP1 mutation responding favorably to PCSK9 inhibition.

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Source

Identifiers

PMID: 28391897
DOI: 10.1016/j.jacl.2016.10.002

Genes

LDLRAP1
PCSK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Autosomal recessive hypercholesterolemia: update for 2020.Semantic proximity Read ↗

Living the PCSK9 adventure: from the identification of a new gene in familial hypercholesterolemia towards a potential new class of anticholesterol drugs.Semantic proximity Read ↗

Proprotein convertase subtilisin kexin 9: the third locus implicated in autosomal dominant hypercholesterolemia.Semantic proximity Read ↗

PCSK9 Mutations in Familial Hypercholesterolemia: from a Groundbreaking Discovery to Anti-PCSK9 Therapies.Semantic proximity Read ↗

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