Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

Newline Maker

How is sitosterolemia diagnosed?

Sitosterolemia is diagnosed by measuring the levels of plant sterols in the blood, including sitosterol, campesterol, and stigmasterol. Normal cholesterol studies will not diagnosed sitosterolemia because they cannot distinguish among the different sterols. DNA analysis of the ABCG5 and ABCG8 genes can be helpful in detecting mutations and confirming the diagnosis.[1][2]
Last updated: 4/12/2016

References
  1. What is Sitosterolemia?. Sterol & Isoprenoid Research Consortium. 2016; http://www.rarediseasesnetwork.org/cms/stair/Learn-More/Disorder-Definitions.
  2. Merkens LS, Myrie SB, Steiner RD, Mymin D. Sitosterolemia. GeneReviews. April 4, 2013; http://www.ncbi.nlm.nih.gov/books/NBK131810/.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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.