Phenotypes, Genotypes, Treatment, and Outcomes of 14 Children with Sitosterolemia at Vietnam National Children's Hospital.

ABSTRACT: Background: Sitosterolemia is a rare autosomal recessive disorder characterized by diverse clinical manifestations ranging from asymptomatic cases to the development of xanthomas, hypercholesterolemia, premature atherosclerosis, or even sudden death during childhood. It results from homozygous or compound heterozygous pathogenic variants in the ABCG5 or ABCG8 genes. Prompt detection and intervention are essential to managing this condition and preventing severe outcomes. Methods: This study aims to retrospectively analyze the phenotype, genotype, treatment, and outcomes of 14 children-seven boys and seven girls-all of Vietnamese origin, diagnosed with sitosterolemia at the Vietnam National Children's Hospital between March 2015 and July 2024. Results: The

SUBMITTER: Do TTM 

PROVIDER: S-EPMC11765834 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature