Sitosterolemia [Supplementary Concept]
A hereditary autosomal recessive disorder that is characterized by the unregulated intestinal absorption of both CHOLESTEROL and PHYTOSTEROLS. Patients have very high plasma levels of phytosterols and develop XANTHOMA at tendons and joints (tuberous xanthoma), ATHEROSCLEROSIS, and premature CORONARY ARTERY DISEASE. Mutations in the ABCG5 and ABCG8 genes have been identified. OMIM: 210250
Date introduced: August 25, 2010
MeSH Unique ID: C537345
Heading Mapped to:
Entry Terms:
- Pseudohomozygous familial hypercholesterolemia
- Plant sterol storage disease
- Phytosterolemia
- Macrothrombocytopenia-Stomatocytosis, Mediterranean