Compound heterozygous low-density lipoprotein receptor variants causing homozygous of familial hypercholesterolemia in two sisters: a case report.

ABSTRACT:

Background

Familial hypercholesterolemia (FH) is a severe hereditary lipid metabolism disorder. Homozygous FH (HoFH) in particular was marked by rapid disease progression, with afflicted children at risk of developing coronary heart disease or even suffering from fatal myocardial infarction in their teenage years. This case report is aim to deepen understanding of HoFH's complexity and provide a scientific foundation for early diagnosis, personalized therapy to improve treatment protocols and reduce the burden on patients and families.

Case description

We report two Chinese sisters presenting with multiple xanthomas from early childhood. Laboratory results showed markedly elevated total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) levels. Genetic testing

SUBMITTER: Li C 

PROVIDER: S-EPMC12597207 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature