Clinical, genetic characteristics and long-term follow-up of sitosterolemia in children.

ABSTRACT:

Background

Sitosterolemia is a rare lipid disorder characterized by elevated phytosterols and low-density lipoprotein cholesterol (LDL-C), resulting from pathogenic variants in the ABCG5 and/or ABCG8 genes. To enhance the understanding of this condition, we systematically summarized the clinical manifestations, laboratory findings, gene variations, and treatment effect outcomes in 12 pediatric patients diagnosed with sitosterolemia.

Methods

The clinical features, laboratory profiles, and gene variations of 12 children diagnosed with sitosterolemia were analyzed. Long-term follow-up was conducted, with the longest observation period exceeding 8 years.

Results

A total of 12 patients with sitosterolemia were diagnosed at our center. The age at diagnosis ran

SUBMITTER: Huang S 

PROVIDER: S-EPMC11921316 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature