The 20 Best Sitosterolemia Doctors Near Me in Tennessee, US

Sitosterolemia is a rare inherited condition in which plant sterols accumulate in the blood and tissues. Plant sterols, including sitosterol, stigmasterol, and campesterol, are fatty substances found in vegetable oils and nuts. Individuals with Sitosterolemia have extremely high levels of sitosterol (30 to 100 times higher than normal), along with mildly to moderately elevated levels of cholesterol in their blood. These plant sterols and cholesterol build up in the arteries, leading to premature thickening of the artery walls and early heart disease. Affected individuals may also develop small yellowish growths called xanthomas on or under the skin and in the tendons. Sitosterolemia is caused by genetic changes in the ABCG5 or ABCG8 gene. The condition is inherited in an autosomal recessive pattern.