Familial chylomicronemia syndrome: an under‐recognized cause of severe hypertriglyceridaemia
Abstract
Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder of chylomicron metabolism causing severe elevation of triglyceride (TG) levels (>10 mmol L -1 ). This condition is associated with a significant risk of recurrent acute pancreatitis (AP). AP caused by hypertriglyceridaemia (HTG) has been associated with a worse prognosis and higher mortality rates compared to pancreatitis of other aetiology. Despite its association with poor quality of life and increased lifelong risk of HTG-AP, few healthcare providers are familiar with FCS. Because this condition is under-recognized, the majority of FCS patients are diagnosed after age 20 often after consulting several physicians. Although other forms of severe HTG such as multifactorial chylomicronemia have been associated with high atherosclerotic cardiovascular disease (ASCVD) risk and metabolic abnormalities, ASCVD and metabolic syndrome are not usually observed in FCS patients. Because FCS is a genetic condition, the optimal diagnosis strategy remains genetic testing. The presence of bi-allelic pathogenic mutations in LPL, APOC2, GPIHBP1, APOA5 or LMF1 genes confirms the diagnosis. However, some cases of FCS caused by autoantibodies against LPL or GPIHBP1 proteins have also been reported. Furthermore, a clinical score for the diagnosis of FCS has been proposed but needs further validation. Available treatment options to lower triglycerides such as fibrates or omega-3 fatty acids are not efficacious in FCS pa…
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These guideline-recommended approaches have shown limited efficacy in reducing triglyceride levels and preventing acute pancreatitis in clinical trials.
“However, these approaches have shown limited efficacy in reducing triglyceride levels and preventing acute pancreatitis in clinical trials [8, 36, 37].”
From The Efficacy and Safety of Plozasiran on Lipid Profile in Dyslipidemic Disorders: A Systematic Review and Meta-Analysis (2026) · cites this paper as [36]
Cites
Evaluation and Treatment of Hypertriglyceridemia: An Endocrine Society Clinical Practice Guideline
Berglund, L., Brunzell, J. D., Goldberg, A. C., Goldberg, I. J., Sacks, F., Murad, M. H., & Stalenhoef, A. F. H. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-3213 · Cited by 887 · see citing works
Hypertriglyceridemia: its etiology, effects and treatment
Yuan, G., Al-Shali, K. Z., & Hegele, R. A. (2007) · Canadian Medical Association Journal · doi:10.1503/cmaj.060963 · Cited by 624 · see citing works
Current knowledge of hypertriglyceridemic pancreatitis
Valdivielso, P., Ramírez-Bueno, A., & Ewald, N. (2014) · European Journal of Internal Medicine · doi:10.1016/j.ejim.2014.08.008 · Cited by 439 · see citing works
Chylomicronaemia–current diagnosis and future therapies
Brahm, A. J., & Hegele, R. A. (2015) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2015.26 · Cited by 356 · see citing works
Self-citationNonfasting mild-to-moderate hypertriglyceridemia and risk of acute pancreatitis
Pedersen, S. B., Langsted, A., & Nordestgaard, B. G. (2016) · JAMA Internal Medicine · doi:10.1001/jamainternmed.2016.6875 · Cited by 270 · see citing works
Severe hypertriglyceridemia is primarily polygenic
Dron, J. S., Wang, J., Cao, H., McIntyre, A. D., Iacocca, M. A., Menard, J. R., Movsesyan, I., Malloy, M. J., Pullinger, C. R., Kane, J. P., et al. (2019) · Journal of Clinical Lipidology · doi:10.1016/j.jacl.2018.10.006 · Cited by 222 · see citing works
Self-citationHypertriglyceridemia in the genomic era: a new paradigm
Lewis, G. F., Xiao, C., & Hegele, R. A. (2015) · Endocrine Reviews · doi:10.1210/er.2014-1062 · Cited by 152 · see citing works
Self-citationConservative management in hypertriglyceridemia-associated pancreatitis
Berberich, A. J., Ziada, A., Zou, G. Y., & Hegele, R. A. (2019) · Journal of Internal Medicine · doi:10.1111/joim.12925 · Cited by 67 · see citing works
Self-citationThe burden of familial chylomicronemia syndrome: interim results from the IN-FOCUS study
Davidson, M., Stevenson, M., Hsieh, A., Ahmad, Z., Crowson, C., & Witztum, J. L. (2017) · Expert Review of Cardiovascular Therapy · doi:10.1080/14779072.2017.1311786 · Cited by 54 · see citing works
Roundtable on etiology of familial chylomicronemia syndrome
Brown, W. V., Gaudet, D., Goldberg, I., & Hegele, R. (2018) · Journal of Clinical Lipidology · doi:10.1016/j.jacl.2017.12.015 · Cited by 18 · see citing works
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Metabolism of triglyceride-rich lipoproteins in health and dyslipidaemia
Borén, J., Taskinen, M.-R., Björnson, E., & Packard, C. J. (2022) · Nature Reviews Cardiology · doi:10.1038/s41569-022-00676-y · Cited by 315 · see citing works
Genetics of hypertriglyceridemia
Dron, J. S., & Hegele, R. A. (2020) · Frontiers in Endocrinology · doi:10.3389/fendo.2020.00455 · Cited by 244 · see citing works
Self-citationPlozasiran for Managing Persistent Chylomicronemia and Pancreatitis Risk
Watts, G. F., Rosenson, R. S., Hegele, R. A., Goldberg, I. J., Gallo, A., Mertens, A., Baass, A., Zhou, R., Muhsin, M., Hellawell, J., et al. (2025) · New England Journal of Medicine · doi:10.1056/nejmoa2409368 · Cited by 178 · see citing works
Self-citationSydhom, P., Al-Quraishi, B., Gohar, A., El-Shawaf, M., Shehata, N., Ataya, M., Sydhom, M., Awwad, N., Motawade, H., Naji, N., et al. (2026) · Cardiovascular Drugs and Therapy · doi:10.1007/s10557-025-07798-8 · Cited by 5 · see citing works
- Authors
- Baass, A., Paquette, M., Bernard, S., & Hegele, R. A.
- Affiliations
- Montreal Clinical Research Institute (CA)
- Western University (CA)
- Corresponding author
- Baass, A.
- Venue
- Journal of Internal Medicine
- Publisher
- Wiley
- Published
- 2020-01-08
- Volume
- 287
- Issue
- 4
- Pages
- 340-348
- ISSN
- 0954-6820 (ISSN-L)
- 1365-2796
- OpenAlex
- W2995595339
- Cited by
- 144
- References
- 10
- Citations by year
- 2026: 23 · 2025: 23 · 2024: 29 · 2023: 29 · 2022: 17 · 2021: 15 · 2020: 8
- FWCI
- 1.81
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Internal Medicine (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Lymphatic Disorders and Treatments
- Health Sciences › Medicine › Surgery › Pancreatitis Pathology and Treatment
- Keywords
- familial chylomicronemia syndrome, recurrent acute pancreatitis, genetic testing, APOC2, GPIHBP1, APOA5, LMF1, autoantibodies, very low-fat diet, fibrates, omega-3 fatty acids, ANGPTL3 inhibitors, under-recognition
- MeSH terms
- Acute Disease, Humans, Hyperlipoproteinemia Type I, Pancreatitis, Hypertriglyceridemia
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