Phytosterolaemia: diagnosis, characterization and therapeutical approaches

Phytosterolaemia (sitosterolaemia) is a very rare inherited sterol storage disease characterized by tendon and tuberous xanthomas and by a strong predisposition to premature coronary atherosclerosis. In addition to increased or normal serum cholesterol, patients are found to have markedly elevated concentrations of the phytosterols sitosterol and campesterol. These sterols accumulate in all tissues, except the brain. Increased intestinal absorption of plant sterols, impaired biliary excretion, and decreased cholesterol synthesis are suggested as causes for this disease. However, the primary defect has not yet been identified. As well as dietary restrictions of cholesterol and plant sterols, therapeutic approaches based on interruption of the enterohepatic circulation of bile acids by administration of bile acid-binding resins or ileal bypass surgery have been recommended as therapeutic approaches to reduce all serum sterols. Administration of sitostanol, a nonabsorbable saturated plant sterol, showed a significant reduction of serum plant sterols and cholesterol in two patients with phytosterolaemia, presumably by competitive inhibition of sterol absorption.