Sitosterolemia (ß-Sitosterolemia)

Aim: Sitosterolemia -also known as phytosterolemia- is a rare autosomal, recessively inherited disease characterized by elevated plasma and tissue plant sterol concentrations. Sitosterolemia is characterized by tendon and tuberous xanthomas and by a strong propensity toward premature coronary atherosclerosis. In this article information concerning sitosterolemia disease are reviewed. Main Main Findings: In contrast to healthy subjects with total plasma plant sterols less than 1 mg/dl, patients with sitosterolemia have plasma phytosterol levels in the range of 12 to 40 mg/dl. The main plant sterols in patients with phytosterolemia are sitosterol and kampesterol but also elevated levels of stigmasterol, avenasterol, brassikasterol, kampestanol, sitostanol are found. Sitosterolemia has been shown to result from mutations in either of the genes for 2 proteins (ABCG5 or ABCG8). These ABC transporters preferentially pump plant sterols out of intestinal cells into the gut lumen, thereby decreasing sterol absorption. Results: We believe that it is important to measure blood sitosterol levels in suspicious patients in order to get correct diagnosis and treatment the sitosterolemia.