Miriam Larouche, Gerald F Watts, Christie Ballantyne, Daniel Gaudet
{"title":"持续性乳糜微粒血症的概述：远比眼睛看到的要多。","authors":"Miriam Larouche, Gerald F Watts, Christie Ballantyne, Daniel Gaudet","doi":"10.1097/MED.0000000000000903","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose of review: </strong>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.</p><p><strong>Recent findings: </strong>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.</p><p><strong>Summary: </strong>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.</p>","PeriodicalId":10964,"journal":{"name":"Current Opinion in Endocrinology & Diabetes and Obesity","volume":" ","pages":"75-88"},"PeriodicalIF":2.6000,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11872273/pdf/","citationCount":"0","resultStr":"{\"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\":\"<p><strong>Purpose of review: </strong>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.</p><p><strong>Recent findings: </strong>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.</p><p><strong>Summary: </strong>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.</p>\",\"PeriodicalId\":10964,\"journal\":{\"name\":\"Current Opinion in Endocrinology & Diabetes and Obesity\",\"volume\":\" \",\"pages\":\"75-88\"},\"PeriodicalIF\":2.6000,\"publicationDate\":\"2025-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11872273/pdf/\",\"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\":\"2025/2/10 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","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":"2025/2/10 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
An overview of persistent chylomicronemia: much more than meets the eye.
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.
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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