Xenosterolemia in clinical practice: What is in a name?

Wann Jia Loh; Gerald F. Watts

doi:10.1097/MED.0000000000000795

Xenosterolemia in clinical practice: What is in a name?

Wann Jia Loh, Gerald F. Watts

Internal Medicine

Research output: Contribution to journal › Review article › peer-review

2 Citations (Web of Science)

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 findingsRecent 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.SummaryMeasurement 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.

Original language	English
Pages (from-to)	123-127
Number of pages	5
Journal	Current Opinion in Endocrinology, Diabetes and Obesity
Volume	30
Issue number	2
DOIs	https://doi.org/10.1097/MED.0000000000000795
Publication status	Published - 1 Apr 2023

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title = "Xenosterolemia in clinical practice: What is in a name?",

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 findingsRecent 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.SummaryMeasurement 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.",

keywords = "cholesterol absorption, familial hypercholesterolemia, phytosterolemia, sitosterol, sitosterolemia, xenosterolemia",

author = "Loh, {Wann Jia} and Watts, {Gerald F.}",

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publisher = "Lippincott Williams & Wilkins",

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TY - JOUR

T1 - Xenosterolemia in clinical practice

T2 - What is in a name?

AU - Loh, Wann Jia

AU - Watts, Gerald F.

PY - 2023/4/1

Y1 - 2023/4/1

N2 - 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 findingsRecent 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.SummaryMeasurement 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.

AB - 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 findingsRecent 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.SummaryMeasurement 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.

KW - cholesterol absorption

KW - familial hypercholesterolemia

KW - phytosterolemia

KW - sitosterol

KW - sitosterolemia

KW - xenosterolemia

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U2 - 10.1097/MED.0000000000000795

DO - 10.1097/MED.0000000000000795

M3 - Review article

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AN - SCOPUS:85148679155

SN - 1752-296X

VL - 30

SP - 123

EP - 127

JO - Current Opinion in Endocrinology, Diabetes and Obesity

JF - Current Opinion in Endocrinology, Diabetes and Obesity

IS - 2

ER -

Xenosterolemia in clinical practice: What is in a name?

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