sitosterolemia


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sitosterolemia

 [si-tos″ter-ol-e´me-ah]
the presence of excessive levels of sitosterols in the blood, especially β-sitosterol, absorbed from dietary vegetables due to an unknown intestinal defect. A rare form is associated with xanthomatosis, with tuberous and tendon xanthomas appearing in childhood.

phy·to·ste·ro·lem·i·a

(fī'tō-stē'ro-lēm'ē-ă),
An inherited disorder in which hyperabsorption of phytosterols and shellfish sterols results in tendon and tuberous xanthomata.
Synonym(s): sitosterolemia

sitosterolemia

(sī-tŏs″tĕr-ōl-ē′mē-ă)
A rare, autosomal recessive disorder in which sitosterols are excessively absorbed from the gastrointestinal tract and stored in the body. The disease produces atherosclerotic vascular disease (esp. premature coronary artery disease and premature death), hemolytic anemia, and arthritis.
References in periodicals archive ?
Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis.
There was no clinical reason to suspect that the patient's plasma contained large amounts of phytosterols (as in patients with sitosterolemia), and the patient was not receiving total parenteral nutrition, both of which are possible confounding factors (1).
It will also not discriminate between FH and non-FH such as secondary hypercholesterolemia, sitosterolemia, or other variants.
In very rare instances, a genetic mutation in the ABCG5 or ABCG8 gene leaves individuals lacking the ability to excrete PS, a condition called sitosterolemia, which looks very similar to FH in many respects.
Also, studies of two rare genetic lipid disorders, Tangier disease and sitosterolemia, have revolutionized our understanding of sterol transport (17,18).
We show the clinical usefulness of the technique by successfully applying it to 4 inherited disorders in lipid metabolism: SLOS, cerebrotendinous xanthomatosis (CTX), sitosterolemia, and Refsum disease.
The patient population consisted of the following: SLOS (OMIM 270400), 3 cases; CTX (OMIM 213700), 3 cases; sitosterolemia (OMIM 210250),1 case; and Refsum disease (OMIM 266500), 1 case.