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Sitosterolemia Medication

  • Author: Robert D Steiner, MD; Chief Editor: Luis O Rohena, MD  more...
Updated: Oct 29, 2015

Medication Summary

The goals of pharmacotherapy are to reduce morbidity and prevent complications.


Bile acid-binding resins

Class Summary

These agents are used as lipid-regulating drugs to modify blood lipid concentrations. They are used in the management of hyperlipidemias and for the reduction of cardiovascular risk. They lower cholesterol by combining with bile acids in the gastrointestinal tract, thus preventing their reabsorption. This leads to increased cholesterol oxidation to replace the lost bile acids and increased hepatocyte low-density lipoprotein (LDL)-receptor synthesis, which results in reduced LDL-cholesterol levels.

Reductions of approximately 45% in cholesterol and plant sterols have been achieved with administration of bile acid-binding resins. Three of five Chinese patients received cholestyramine with a very good response initially, but all discontinued therapy due to poor compliance.[5]

Cholestyramine (Prevalite, Questran)


Bile acid sequestrant shown to lower plasma sterol levels in sitosterolemia. Dosage is, in part, determined by clinical and biochemical response. Pediatric doses up to 12 g/d have been used in sitosterolemia.

Start with low dose; administer PO as slurry in water, juice, or milk before meals; chewable bars are also available.


Antilipemic Agent, 2-Azetidinone

Class Summary

These agents inhibit dietary cholesterol absorption from the small intestine.

Ezetimibe (Zetia)


First in new class of cholesterol-lowering agents that inhibits intestinal absorption of cholesterol. Targets the sterol transporter, Niemann-Pick C1-Like 1 (NPC1L1), which is involved in the intestinal uptake of cholesterol and phytosterols.

Contributor Information and Disclosures

Robert D Steiner, MD Chief Medical Officer, Acer Therapeutics; Clinical Professor, University of Wisconsin School of Medicine and Public Health

Robert D Steiner, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Medical Genetics and Genomics, American Society of Human Genetics, Society for Inherited Metabolic Disorders, Society for Pediatric Research, Society for the Study of Inborn Errors of Metabolism

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Acer Therapeutics; Retrophin; Raptor Pharma; Veritas Genetics; Censa Pharma<br/>Received income in an amount equal to or greater than $250 from: Acer Therapeutics; Retrophin; Raptor Pharma; Censa Pharma.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Luis O Rohena, MD Chief, Medical Genetics, San Antonio Military Medical Center; Assistant Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Assistant Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.


The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author Patricia Campbell, MD, to the original writing and development of this article.

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Tuberous xanthomas. Courtesy of Duke University Medical Center.
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