Endocrine Abstracts

JOINT135

Background: Sitosterolemia is a rare lipid disorder characterized by the elevated of phytosterols and LDL cholesterol, caused by mutations in the ABCG5 and/or ABCG8 genes. To get a better understanding of the disease, we summarized the clinical manifestations, laboratory examination, gene mutations and treatment effect of 12 sitosterolemia children.

Methods: The clinical features, laboratory characteristics and gene mutations of 12 children with sitosterolemia were analysed, followed up for the longest period of more than 8 years.

Results: 12 patients with sitosterolemia were diagnosed in our center. These patients were aged from 4 months to 8. 3 years at diagnosis. the median age was 1. 2 years old. All patients did gene testing. 10 patients found mutations in the ABCG5 gene, 1 patients had mutation in ABCG8, and no variations was found in 1 patient. Serum Sitosterol were completed in 9 patients, and all support the diagnosis of sitosterolemia. 9 patients were managed with low cholesterol and phytosterol diet alone. 3 patient treated with ezetimibe or/and cholestyramine. Long term follow-up showed a decrease in total cholesterol (TC) and low density-lipoprotein cholesterol (LDL-C) in all patients, 3 patients with xanthoma disappearing in 1-2 years treatment and the remaining 4 patients showing significant decrease.

Conclusions: Xanthoma is landmark present of sitosteronism children, most our patients have mutations in the ABCG5 gene. Genetic and plant sterol profiles are of great significance for sitosteronism diagnosis. Most patients can achieve good results through dietary control. Ezetimibe and cholestyramine are effective for sitosteronism children and with relative safety.

Keywords Sitosterolemia; Xanthoma; Hypercholesterolemia; ABCG5; ABCG8