[Sitosterolemia (phytosterolemia)]

Internist (Berl). 2019 Aug;60(8):871-877. doi: 10.1007/s00108-019-0635-2.
[Article in German]

Abstract

Sitosterolemia or phytosterolemia is a rare autosomal recessive hereditary lipid storage disorder. It is caused by homozygous or compound heterozygous mutations in one of the two ABCG5 and ABCG8 genes encoding the intestinal and hepatic heterodimer ABCG5 (sterolin 1)/ABCG8 (sterolin 2) efflux transporters. These mutations lead to intestinal hyperabsorption and reduced hepatic secretion of cholesterol and plant sterols with subsequent accumulation of phytosterols and cholesterol in plasma and deposition in tissue (xanthoma). Phytosterols are found mainly in vegetable oils, margarine, nuts, grains, soybeans and avocados. Patients with sitosterolemia show extreme phenotypic heterogeneity from almost asymptomatic individuals to those with combined severe hypercholesterolemia at a young age, leading to increased atherosclerosis and premature cardiac death. Early abnormalities include hemolytic anemia with stomatocytosis, macrothrombocytopenia and splenomegaly. In addition to strict avoidance of phytosterol-containing foods, the use of the sterol absorption inhibitor ezetimibe, possibly in combination with the bile acid-binding resin cholestyramine, is the most effective treatment option.

Keywords: Biliary sterol secretion; Cholesterol metabolism; Phytosterols; Sterol absorption; Xanthomatosis.

Publication types

  • Review

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily G, Member 5
  • ATP Binding Cassette Transporter, Subfamily G, Member 8
  • ATP-Binding Cassette Transporters / genetics*
  • Humans
  • Hypercholesterolemia / blood
  • Hypercholesterolemia / pathology*
  • Intestinal Diseases / pathology*
  • Lipid Metabolism, Inborn Errors / complications
  • Lipid Metabolism, Inborn Errors / genetics*
  • Lipid Metabolism, Inborn Errors / pathology
  • Mutation / genetics*
  • Phytosterols / adverse effects*
  • Phytosterols / blood*

Substances

  • ABCG8 protein, human
  • ATP Binding Cassette Transporter, Subfamily G, Member 5
  • ATP Binding Cassette Transporter, Subfamily G, Member 8
  • ATP-Binding Cassette Transporters
  • Phytosterols

Supplementary concepts

  • Sitosterolemia