Sitosterolemia

Sitosterolemia
Other namesPhytosterolemia,[1]: 535  xenosterolemia[2]
Autosomal recessive is the manner in which this condition is inherited.
SpecialtyEndocrinology 

Sitosterolemia, also known as phytosterolemia, is a rare autosomal recessively inherited lipid metabolic disorder. It is characterized by hyperabsorption and decreased biliary excretion of dietary sterols (including the phytosterol beta-sitosterol). Healthy persons absorb only about 5% of dietary plant sterols, but sitosterolemia patients absorb 15% to 60% of ingested sitosterol without excreting much into the bile.[3] It's named after the most abundant phytosterol in the diet, sitosterol, though other phytosterols are also involved.[4] The phytosterol campesterol is more readily absorbed than sitosterol.[5]

Sitosterolemia patients develop hypercholesterolemia, tendon and tuberous xanthomas, premature development of atherosclerosis, and abnormal hematologic and liver function test results.[6]

  1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
  2. ^ Farzam, Khashayar; Morgan, Ryan T. (2025). "Sitosterolemia (Phytosterolemia)". StatPearls. StatPearls Publishing. PMID 34283508.
  3. ^ Berge KE, Tian H, Graf GA, Yu L, Grishin NV, Schultz J, Kwiterovich P, Shan B, Barnes R, Hobbs HH (2000). "Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters". Science. 290 (5497): 1771–1775. Bibcode:2000Sci...290.1771B. doi:10.1126/science.290.5497.1771. PMID 11099417. S2CID 15836675.
  4. ^ Cite error: The named reference lee was invoked but never defined (see the help page).
  5. ^ Lütjohann D, Björkhem I, Beil UF, von Bergmann K (1995). "Sterol absorption and sterol balance in phytosterolemia evaluated by deuterium-labeled sterols: effect of sitostanol treatment". Journal of Lipid Research. 36 (8): 1763–1773. doi:10.1016/S0022-2275(20)41495-6. PMID 7595097.
  6. ^ Cite error: The named reference medscape was invoked but never defined (see the help page).
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