Xenosterolemia in clinical practice: what is in a name?

Wann Jia Loh, Gerald F Watts

Journal: Current opinion in endocrinology, diabetes, and obesity 2023;30(2):123-127

PMID: 36597814

Abstract

PURPOSE OF REVIEW

The aim of this study was to assess the potential value of the measurement of plasma xenosterols (or phytosterols) concentrations in clinical practice.

RECENT FINDINGS

Recent genetic studies suggest that individuals with elevated plasma phytosterol concentrations due to monogenic and polygenic variants are at an increased risk of coronary artery disease. This supports early observations that elevated plasma phytosterol concentrations are per se atherogenic.

SUMMARY

Measurement of plasma phytosterols can identify individuals with xenosterolemia (or phytosterolemia). This may be clinically useful in four ways: Establishing a diagnosis and informing management of patients with homozygous phytosterolemia; Providing a comprehensive differential diagnosis for familial hypercholesterolemia; Providing an index of cholesterol absorption that may inform personalized pharmacotherapy; and Informing more precise assessment of risk of cardiovascular disease.

Address: School of Medicine, University of Western Australia.; Department of Cardiology and Internal Medicine, Royal Perth Hospital, Perth, Western Australia, Australia.; Department of Endocrinology, Changi General Hospital, Changi.; Duke-NUS Medical School, Singapore, Singapore.

DOI: 10.1097/MED.0000000000000795

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MeSH Terms: Humans, Hypercholesterolemia, Lipid Metabolism, Inborn Errors, Phytosterols, Intestinal Diseases