Sitosterolemia.

Abstract

Sitosterolemia is an inherited metabolic disorder characterized by increased levels of plant sterols, such as sitosterol. This disease is caused by loss-of-function genetic mutations in the ATP-binding cassette (ABC) subfamily G member 5 or member 8 (ABCG5 or ABCG8, respectively), both of which play important roles in the selective excretion of plant sterols from the liver and intestine, leading to a failure to excrete plant sterols. Sitosterolemia, which is currently considered a rare genetic disorder, has been described as a phenocopy of homozygous familial hypercholesterolemia (FH). Typical phenotypes of sitosterolemia, including elevated low-density lipoprotein (LDL) cholesterol, tendon xanthomas, and premature coronary artery disease, overlap those of homozygous FH; however, there are substantial differences between these two diseases in terms of treatments and prognoses. Moreover, it is of note that sitosterolemia appears to be quite underdiagnosed, although accurate diagnosis and appropriate interventions will likely to lead to better prognoses compared with homozygous FH. Unlike cases of homozygous FH, dietary counseling is quite effective in reducing the LDL cholesterol as well as sitosterol of patients with sitosterolemia. In this chapter, we summarize the current understandings of this disease and provide useful tips for the diagnosis as well as better treatment of patients with sitosterolemia.

• Authors: Hayato Tada, Nobuko Kojima, Masayuki Takamura, Masa-Aki Kawashiri
• Journal: Advances in clinical chemistry (Adv Clin Chem) Vol. 110 Pg. 145-169 ( 2022) ISSN: 2162-9471 [Electronic] United States
• PMID: 36210074 (Publication Type: Journal Article)
• Copyright: Copyright © 2022 Elsevier Inc. All rights reserved.

Chemical References

• ATP Binding Cassette Transporter, Subfamily G, Member 5
• ATP Binding Cassette Transporter, Subfamily G, Member 8
• Cholesterol, LDL
• Lipoproteins
• Phytosterols
• Sitosterols
• Adenosine Triphosphate
• Cholesterol

Topics

• ATP Binding Cassette Transporter, Subfamily G, Member 5 (genetics)
• ATP Binding Cassette Transporter, Subfamily G, Member 8 (genetics)
• Adenosine Triphosphate
• Cholesterol (metabolism)
• Cholesterol, LDL (metabolism)
• Humans
• Hypercholesterolemia
• Intestinal Diseases
• Lipid Metabolism, Inborn Errors
• Lipoproteins (genetics)
• Phytosterols (adverse effects, genetics)
• Sitosterols (chemistry)