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Z Kardiol. 2004 Dec;93(12):921-8.

Sitosterolemia--a rare disease. Are elevated plant sterols an additional risk factor?

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Universit├Ątsklinikum Bonn, Abteilung f├╝r Klinische Pharmakologie, European Network for inherited Dyslipidaemias-Cerebrotendinous Xanthomatosis and Phytosterolemia, Sigmund-Freud-Str. 25, 53105 Bonn, Germany.


Elevated plasma plant sterol concentrations, xanthomatosis, and accelerated-often fatal-atherosclerosis at young age are the major findings in patients with homozygous sitosterolemia. A defect in the ABCG5 or ABCG8 co-transporter gene locus (STSL) causes an increased intestinal absorption and a decreased biliary elimination of all sterols, plant sterols as well as cholesterol, leading to a 50 to 200-fold increase in plasma plant sterol concentrations. A few recent publications indicate that even moderately elevated plasma plant sterol levels might be associated with an increased risk of atherosclerosis. This raises the question whether plant sterols themselves might be atherogenic or whether elevated plasma levels are a marker for a decreased ABCG5/G8 transporter activity which itself causes an increased risk for atherosclerosis. However, current data are too few to conclude that elevated plant sterol concentrations in plasma are an additional risk factor for coronary heart disease. But especially young patients suffering from xanthomatosis and/or atherosclerotic diseases with only mildly or moderately elevated plasma cholesterol should be screened for sitosterolemia by measurement of plasma plant sterol levels.

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