Diagnosis and management of sitosterolemia

Sitosterolemia is a rare autosomal recessive disorder, which is caused by increased intestinal absorption and decreased biliary excretion of plant sterols resulting from heterozygous mutations in either ABCG5 or ABCG8 gene.Sitosterolemia is characterized by increased serum plant sterol levels, hypercholesterolemia, xanthomas, accelerated atherosclerosis, and some patients have hematologic manifestations such as stomatocytic hemolysis, macrothrombocytopenia, etc.Early diagnosis can be made by serum plant sterol detection by gas chromatography mass spectrometry or liquid chromatography mass spectrometry, or ABCG5 and ABCG8 gene sequencing.The mainstay of therapy includes dietary restriction of both cholesterol and plant sterols, and the sterol absorption inhibitor or bile acid sequestrants.This article reviewed recent publication of sitosterolemia at home and abroad. Key words: Sitosterolemia; Phytosterolemia; Diagnosis; Management