The DOI matches its Crossref record; 133 of the 134 references it cites were found in a registry or an index.
Chylomicronaemia–current diagnosis and future therapies
Abstract
This Review discusses new developments in understanding the basis of chylomicronaemia--a challenging metabolic disorder for which there is an unmet clinical need. Chylomicronaemia presents in two distinct primary forms. The first form is very rare monogenic early-onset chylomicronaemia, which presents in childhood or adolescence and is often caused by homozygous mutations in the gene encoding lipoprotein lipase (LPL), its cofactors apolipoprotein C-II or apolipoprotein A-V, the LPL chaperone lipase maturation factor 1 or glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1. The second form, polygenic late-onset chylomicronaemia, which is caused by an accumulation of several genetic variants, can be exacerbated by secondary factors, such as poor diet, obesity, alcohol intake and uncontrolled type 1 or type 2 diabetes mellitus, and is more common than early-onset chylomicronaemia. Both forms of chylomicronaemia are associated with an increased risk of life-threatening pancreatitis; the polygenic form might also be associated with an increased risk of cardiovascular disease. Treatment of chylomicronaemia focuses on restriction of dietary fat and control of secondary factors, as available pharmacological therapies are only minimally effective. Emerging therapies that might prove more effective than existing agents include LPL gene therapy, inhibition of microsomal triglyceride transfer protein and diacylglycerol O-acyltransferase 1, and interference with the production and secretion of apoC-III and angiopoietin-like protein 3.
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In the citing paper
“complete apo C-II deficiency accounts for ∼2% of all FCS cases.93”
From Clinical review on triglycerides (2020) · cites this paper as [93]
In the citing paper
“The APPROACH trial showed that volanesorsenmediated lowering of plasma apolipoprotein C-III levels in patients with familial chylomicronemia syndrome effectively lowered plasma triglycerides below the threshold of 750 to 880 mg per deciliter”
From Volanesorsen and Triglyceride Levels in Familial Chylomicronemia Syndrome (2019) · cites this paper as [6]
In the citing paper
“Effectiveness of omega-3 fatty acids, routinely used in pharmacologic doses for treatment of severe HTG, has been inconsistent in patients with FCS.3,[16][17][18]20”
From Familial chylomicronemia syndrome: Bringing to life dietary recommendations throughout the life span (2018) · cites this paper as [3]
In the citing paper
“Even when patients adhere to the very-low-fat diet and are monitored by a registered dietitian nutritionist (RDN), TG levels may remain dangerously high.3,20,21”
From Familial chylomicronemia syndrome: Bringing to life dietary recommendations throughout the life span (2018) · cites this paper as [3]
In the citing paper
“Of note, prescription omega-3 fatty acids (up to 4 grams per day) have shown inconsistent effectiveness as a treatment for HTG in patients with FCS.3,[16][17][18][19]”
From Familial chylomicronemia syndrome: Bringing to life dietary recommendations throughout the life span (2018) · cites this paper as [3]
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Metadata
- Authors
- Brahm, A. J., & Hegele, R. A.
- Affiliations
- Western University (CA)
- Corresponding author
- Hegele, Robert A.
- ORCID
- Hegele, Robert A.
- Venue
- Nature Reviews Endocrinology
- Published
- 2015-03-03
- Volume
- 11
- Issue
- 6
- Pages
- 352-362
- ISSN
- 1759-5029 (ISSN-L)
- 1759-5037
- OpenAlex
- W2067802636
- Cited by
- 356
- References
- 134
- Citations by year
- 2026: 32 · 2025: 26 · 2024: 37 · 2023: 28 · 2022: 35 · 2021: 33 · 2020: 43 · 2019: 30 · 2018: 36 · 2017: 25 · 2016: 20 · 2015: 9
- FWCI
- 5.15
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Endocrinology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Canadian Institutes of Health Research (MOP‑79533), MOP13430)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Lymphatic Disorders and Treatments
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipoproteins and Cardiovascular Health
- Keywords
- lipoprotein lipase deficiency, apolipoprotein C-II, apolipoprotein A-V, genetic basis, pancreatitis risk, cardiovascular risk, dietary fat restriction, apolipoprotein C-III, ANGPTL3, new drugs
- MeSH terms
- Hypolipidemic Agents, Benzimidazoles, Diet Therapy, Humans, Hyperlipoproteinemia Type V, Hyperlipoproteinemia Type I, Niacin, Plasma Exchange, Plasmapheresis, Genetic Therapy, Hydroxymethylglutaryl-CoA Reductase Inhibitors, Fibric Acids
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