Sitosterol xanthomatosis.
BACKGROUND: Sitosterolaemia is a lipid disorder in which plasma plant sterol levels are extremely elevated. Sitosterolaemia is clinically characterized by tuberous and tendon xanthomas, premature vascular disease and arthritis. OBJECTIVE: To report a case of sitosterolaemia diagnosed by cutaneous manifestations and to review this rare disease. METHODS: We report the case of a 60-year-old woman who presented with cutaneous xanthomas, arterial hypertension and polyarthralgias. The patient had had hypercholesterolaemia for many years without reduction of serum cholesterol, despite treatment with fenofibrate. RESULTS: Ezetimibe therapy was started, decreasing sitosterol plasmatic levels and tuberous xanthomas after 3 months of treatment. CONCLUSION: It is important to detect levels of sitosterol in plasma in patients with premature vascular disease, presence of xanthomas, and uncontrolled hypercholesterolaemia. Ezetimibe therapy is effective.