REVIEWXenosterolemia in clinical practice: what is in a name?Loh, Wann Jiaa,b,c,d; Watts, Gerald F.a,b Author Information aSchool of Medicine, University of Western Australia bDepartment of Cardiology and Internal Medicine, Royal Perth Hospital, Perth, Western Australia, Australia cDepartment of Endocrinology, Changi General Hospital, Changi dDuke-NUS Medical School, Singapore, Singapore Correspondence to Wann Jia Loh, Cardiometabolic Service, Departments of Cardiology and Internal Medicine, Royal Perth Hospital, and School of Medicine, University of Western Australia, WA 6001, Australia. E-mail: [email protected] Current Opinion in Endocrinology & Diabetes and Obesity ():10.1097/MED.0000000000000795, December 30, 2022. | DOI: 10.1097/MED.0000000000000795 Buy PAP Metrics 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. Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.