Xenosterolemia in clinical practice: what is in a name?

IF 2.6 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM
Wann Jia Loh, Gerald F Watts
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引用次数: 0

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.

临床实践中的异种固醇血症:名称中有什么?
综述目的:本研究的目的是评估血浆xenosterols(或植物甾醇)浓度测量在临床实践中的潜在价值。最近的发现:最近的遗传学研究表明,由于单基因和多基因变异导致血浆植物甾醇浓度升高的个体患冠状动脉疾病的风险增加。这支持了早期的观察结果,即血浆植物甾醇浓度升高本身会导致动脉粥样硬化。摘要:测定血浆植物甾醇可以鉴别异种甾醇血症(或植物甾醇血症)。这可能在四个方面具有临床价值:建立纯合子植物甾醇血症患者的诊断并告知管理;提供家族性高胆固醇血症的综合鉴别诊断;提供胆固醇吸收指数,为个性化药物治疗提供信息;为更精确的心血管疾病风险评估提供信息。
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来源期刊
CiteScore
5.80
自引率
3.10%
发文量
128
审稿时长
6-12 weeks
期刊介绍: ​​​​​​​​Current Opinion in Endocrinology, Diabetes and Obesity delivers a broad-based perspective on the most recent and exciting developments in the field from across the world. Published bimonthly and featuring twelve key topics – including androgens, gastrointestinal hormones, diabetes and the endocrine pancreas, and neuroendocrinology – the journal’s renowned team of guest editors ensure a balanced, expert assessment of the recently published literature in each respective field with insightful editorials and on-the-mark invited reviews.
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