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

Treatment

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How might sitosterolemia be treated?

The primary goal of treatment is to reduce the concentration of plant sterols in the blood (to below 1 mg/dl, if possible). Sitosterolemia can be managed by restricting floods that have a high concentration of plant and shellfish sterols, and with the use of medications. Foods with high plant sterols include vegetable oils, margarine, nuts, seeds, avocados, and chocolate. The drug ezetimibe may be used to decrease the plant sterol concentration in blood. Cholestyramine has also been used in some individuals.[1][2] If medications don't work, partial ileal bypass surgery may be considered.[2]

GeneReviews offers additional details about management.
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/.


GARD Video Tutorial

  • Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.

    Finding Treatment Information

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Sitosterolemia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
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.