sitosterolemia
Sign in to saveAlso known as phytosterolemia, Stsl, Plant sterol storage disease, Retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body, Macrothrombocytopenia/Stomatocytosis, Mediterranean
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. It's named after the most abundant phytosterol in the diet, sitosterol, though other phytosterols are also involved. The phytosterol campesterol is more readily absorbed than sitos
Wikidata facts
- Instance of
- rare disease
Show 6 more facts
- health specialty
- endocrinology
- exact match
- www.orpha.net/ORDO/Orphanet_2882
- NCI Thesaurus ID
- C125694
- genetic association
- ABCG5
- external data available at URL
- www.nanbyou.or.jp/entry/4856
- on focus list of Wikimedia project
- WikiProject Medicine
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Encyclopedic overview
9 sectionsContents
- Signs and symptoms
- Pathogenesis
- Diagnosis
- Treatment
- Epidemiology
- See also
- Notes
- References
- External links
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. It's named after the most abundant phytosterol in the diet, sitosterol, though other phytosterols are also involved. The phytosterol campesterol is more readily absorbed than sitosterol.
Sitosterolemia patients develop hypercholesterolemia, tendon and tuberous xanthomas, premature development of atherosclerosis, and abnormal hematologic and liver function test results.
Excerpted from Wikipedia’s “sitosterolemia” article, available under the CC BY-SA 4.0 licence.