What is the prevalence of sitosterolemia (phytosterolemia)?

Updated: May 24, 2019
  • Author: Robert D Steiner, MD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Sitosterolemia is thought to be a very rare disorder. Only approximately 40 patients had been identified worldwide by 2000. More than likely, sitosterolemia is significantly underdiagnosed. Many patients are probably misdiagnosed with hyperlipidemia; therefore, assay of plasma sterol levels, the definitive diagnostic test for sitosterolemia, is not performed.

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