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

Xanthoma is a hallmark clinical feature in pediatric sitosterolemia, with most cases linked to variants in the <i>ABCG5</i> gene. Genetic testing and serum phytosterol profiling are essential for diagnosis. Dietary modification alone can achieve favorable outcomes in a substantial number of patients. Furthermore, ezetimibe and cholestyramine have proven effective in managing sitosterolemia in children, contributing to significant clinical improvement.