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

ABSTRACT:

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 hospital and was performed with pedigree whole exome sequencing (WES) at 20 + 3 weeks gestation of the mother's second pregnancy.

Diagnoses

Based on the clinical features and genetic analysis, the pedigree was diagnosed with familial hypercholesterolemia.

Interventions

After genetic counseling, the couple opted to continue the pregnancy. Treatment advice and

SUBMITTER: Han Y 

PROVIDER: S-EPMC10419407 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature