Eur Heart J Case Rep. 2026 Aug 18;10(9):ytag603. doi: 10.1093/ehjcr/ytag603. eCollection 2026 Sep.

ABSTRACT

BACKGROUND: 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.

CASE SUMMARY: 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.

DISCUSSION: 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.

PMID:42695094 | PMC:PMC13541107 | DOI:10.1093/ehjcr/ytag603