A disorder in which affected individuals absorb cholesterol and all other sterols from the intestine. The major plant sterol, sitosterol, is found at very high levels in the plasma and leads to the development of tendon and tuberous xanthomas, accelerated atherosclerosis, and premature coronary artery disease. Dietary reduction in sterol-rich foods reduces the symptoms. It is caused by a defect in ABC transporters (ABCG8 or ABCG5) that normally cooperate to limit intestinal absorption and to promote biliary excretion of sterols.
Subjects: Medicine and Health.