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Article

Genetic analysis and management of a familial hypercholesterolemia pedigree with polygenic variants: Case report.

Medicine - 11 Aug 2023

Han Yu, Zhang Lin, Tao Huimin, Wu Jiebin, Zhai Jingfang

Abstract excerpt

RATIONALE: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder typically caused by low density lipoprotein receptor (LDLR) gene mutation. Herein, we reported a FH pedigree with polygenic variants: LDLR, apolipoprotein B (APOB), and epoxide hydrolase 2 (EPHX2). PATIENT CONCERNS: A 10-year-old boy mainly presented multiple skin xanthomas and hypercholesterolemia. His family visited our...

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Identifiers

PMID: 37565868
DOI: 10.1097/MD.0000000000034534
PMCID: PMC10419407

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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