Sitosterolemia

Review
In: Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000.
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Excerpt

Sitosterolemia is a rare autosomal recessive disorder of non-cholesterol sterol metabolism, caused by mutations of the ABCG5 or ABCG8 transporter genes. This results in hyperabsorption and decreased biliary excretion of non-cholesterol sterol, especially sitosterol, from the gastrointestinal tract. Affected individuals have excessive accumulation of plant sterols and 5 alpha-saturated stanols in plasma and tissues, resulting in premature cardiovascular disease. The condition is often clinically confused with familial hypercholesterolemia. This article provided overview of this rare condition, including diagnostic evaluation and treatment. For complete coverage of all related areas of Endocrinology, please visit our on-line FREE web-text, WWW.ENDOTEXT.ORG.

Publication types

  • Review