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Sitosterolemia—a rare disease

Are elevated plant sterols an additional risk factor?

Sitosterinämie—eine seltene Krankheit. Sind erhöhte pflanzliche Sterole ein zusätzlicher Risikofaktor?

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Zusammenfassung

Erhöhte Plasmakonzentrationen pflanzlicher Sterole, Xanthome und eine frühzeitige—häufig letal verlaufende—Atherosklerose in jugendlichem Alter sind die wesentlichen Befunde von Patienten mit homozygoter Sitosterinämie. Verantwortlich hierfür sind Mutationen im Genlokus der ABCG5 oder ABCG8 Cotransporter (STSL) mit der Folge einer erhöhten Resorption und verminderten biliären Elimination aller Sterole, pflanzlicher Sterole wie Cholesterin. Dies führt zu einem 50–200fachen Anstieg der Plasmakonzentrationen pflanzlicher Sterole. Einige kürzlich publizierte Arbeiten deuten an, dass erhöhte Plasmakonzentrationen pflanzlicher Sterole möglicherweise mit einem erhöhten Risiko für Atherosklerose einhergehen könnten und werfen so die Frage auf, ob pflanzliche Sterole an sich atherogen sind oder ob erhöhte Plasmakonzentrationen pflanzlicher Sterole lediglich ein Marker für eine reduzierte ABCG5/G8-Transporteraktivität sind und letztere selbst den eigentlichen Risikofaktor darstellt. Trotz verschiedener Hinweise reichen die zur Zeit vorliegenden Daten nicht aus, um zu beweisen, dass erhöhte Konzentrationen pflanzlicher Sterole ein zusätzlicher Risikofaktor für die koronare Herzkrankheit sind. Allerdings sollten besonders junge Patienten mit Xanthomen und/oder atherosklerostischen Erkrankungen und nur gering bis mäßig erhöhten Plasmacholesterin auf das Vorliegen einer Sitosterinämie mittels Bestimmung der pflanzlichen Sterole im Plasma untersucht werden.

Summary

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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  1. Universitätsklinikum Bonn, Abteilung für Klinische Pharmakologie European Network for inherited Dyslipidaemias—Cerebrotendinous Xanthomatosis & Phytosterolemia, Sigmund-Freud-Str. 25, 53105, Bonn, Germany

    T. Sudhop &  K. von Bergmann

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Sudhop, T., von Bergmann, K. Sitosterolemia—a rare disease. Z Kardiol 93, 921–928 (2004). https://doi.org/10.1007/s00392-004-0165-2

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