Beyond cholesterol: regression of carotid plaques in an adolescent-a case report

Sitosterolaemia is a rare lipid disorder characterized by massive accumulation of phytosterols. Due to its non-specific clinical features and the lack of routine sterol quantification, diagnostic delays are common, leading to inappropriate dietary interventions that may paradoxically accelerate vascular damage.

We herein describe the case of a 13-year-old boy with sitosterolaemia and early-onset atherosclerosis against a background of a 7-year diagnostic delay. Following the identification of a paradoxical pro-atherogenic effect of a standard lipid-lowering diet, treatment with a plant-oil-restricted diet and cholestyramine resulted in a 51.7% reduction in carotid plaque thickness.

This case highlights the necessity of screening for sitosterolaemia in paediatric patients with unexplained carotid plaque. Plaque resolution was achieved only after replacing conventional lipid-lowering strategies with targeted phytosterol-lowering interventions and specialized dietary modifications.