An overview of persistent chylomicronemia: much more than meets the eye.

IF 2.6 3区医学 Q3 ENDOCRINOLOGY & METABOLISM

Current Opinion in Endocrinology & Diabetes and Obesity Pub Date : 2025-02-10 DOI:10.1097/MED.0000000000000903

Miriam Larouche, Gerald F Watts, Christie Ballantyne, Daniel Gaudet

{"title":"An overview of persistent chylomicronemia: much more than meets the eye.","authors":"Miriam Larouche, Gerald F Watts, Christie Ballantyne, Daniel Gaudet","doi":"10.1097/MED.0000000000000903","DOIUrl":null,"url":null,"abstract":"Purpose of review: The aim of this review is to provide an overview of severe hypertriglyceridemia presenting in the form of chylomicronemia that persists despite treatment of secondary causes and the use of conventional lipid-lowering treatment.Recent findings: Persistent chylomicronemia is a rare syndromic disorder that affects carriers of bi-allelic combinations of pathogenic gene variants impairing lipoprotein lipase (LPL) activity, as well as a significant number of individuals who do not meet this genetic criterion. It is associated with a high risk of acute pancreatitis and other morbidities. Effective innovative treatments for severe hypertriglyceridemia are being developed and are becoming available. Patients with persistent chylomicronemia of any cause respond equally to next-generation therapies with LPL-independent mechanisms of action and do not generally respond to conventional LPL-dependent treatments.Summary: Not all individuals with persistent chylomicronemia carry a proven pathogenic combination of gene variants that impair LPL activity. Documenting the clinical characteristics of people with persistent chylomicronemia and their response to emerging therapies is essential to correctly establish their risk trajectory and ensure equitable access to personalized treatment.","PeriodicalId":10964,"journal":{"name":"Current Opinion in Endocrinology & Diabetes and Obesity","volume":" ","pages":""},"PeriodicalIF":2.6000,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Opinion in Endocrinology & Diabetes and Obesity","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/MED.0000000000000903","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}

引用次数: 0

Abstract

Purpose of review: The aim of this review is to provide an overview of severe hypertriglyceridemia presenting in the form of chylomicronemia that persists despite treatment of secondary causes and the use of conventional lipid-lowering treatment.

Recent findings: Persistent chylomicronemia is a rare syndromic disorder that affects carriers of bi-allelic combinations of pathogenic gene variants impairing lipoprotein lipase (LPL) activity, as well as a significant number of individuals who do not meet this genetic criterion. It is associated with a high risk of acute pancreatitis and other morbidities. Effective innovative treatments for severe hypertriglyceridemia are being developed and are becoming available. Patients with persistent chylomicronemia of any cause respond equally to next-generation therapies with LPL-independent mechanisms of action and do not generally respond to conventional LPL-dependent treatments.

Summary: Not all individuals with persistent chylomicronemia carry a proven pathogenic combination of gene variants that impair LPL activity. Documenting the clinical characteristics of people with persistent chylomicronemia and their response to emerging therapies is essential to correctly establish their risk trajectory and ensure equitable access to personalized treatment.

查看原文本刊更多论文

求助全文

约1分钟内获得全文求助全文

来源期刊

Current Opinion in Endocrinology & Diabetes and Obesity ENDOCRINOLOGY & METABOLISM-

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.