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Diseases

Genetic and Rare Diseases Information Center (GARD)

Sitosterolemia


Other Names for this Disease
  • Retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body
  • Phytosterolemia
  • Plant sterol storage disease
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Overview

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.[1][2] Sitosterolemia is caused by mutations in the ABCG5 or ABCG8 gene. The condition is inherited in an autosomal recessive pattern.[1][2][3] Treatment involves restricting foods that are high in plant and shellfish sterols, and taking medications that decrease the concentration of these products in the blood.[2][3]
Last updated: 4/12/2016

References

  1. Sitosterolemia. Genetics Home Reference (GHR). May 2013; https://ghr.nlm.nih.gov/condition/sitosterolemia.
  2. What is Sitosterolemia?. Sterol & Isoprenoid Research Consortium. 2016; http://www.rarediseasesnetwork.org/cms/stair/Learn-More/Disorder-Definitions.
  3. Merkens LS, Myrie SB, Steiner RD, Mymin D. Sitosterolemia. GeneReviews. April 4, 2013; http://www.ncbi.nlm.nih.gov/books/NBK131810/.
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Basic Information

  • Genetics Home Reference contains information on Sitosterolemia. This website is maintained by the National Library of Medicine.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Sitosterolemia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body
  • Phytosterolemia
  • Plant sterol storage disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.