Diagnostic algorithm for familial chylomicronemia syndrome
Open accessAbstract
BACKGROUND: Familial chylomicronemia syndrome (FCS) is a rare genetic disease that leads to severe hypertriglyceridemia often associated with recurrent episodes of pancreatitis. The recognition and correct diagnosis of the disease is challenging due to its rarity, and to the lack of specificity of signs and symptoms. Lipid experts, endocrinologists, gastroenterologists, pancreatologists, and general practitioners may encounter patients who potentially have FCS. Therefore, cooperation between experts and improved knowledge of FCS is essential in improving the diagnosis. Currently, a consensus on best practice for the diagnosis of FCS is lacking. METHODS: Aiming to define a diagnostic algorithm for FCS, a board of European experts was instituted. Such an algorithm for FCS is important to guide practitioners in the diagnosis of suspected FCS and to optimize therapeutic strategies. RESULTS: The multidisciplinary views were merged, leading to a diagnostic algorithm, proposed here. CONCLUSION: This diagnostic algorithm represents a potentially useful tool to support primary and secondary care practitioners in the recognition of signs and clinical manifestations in individuals potentially affected by FCS.
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Loss of LPL activity results in a reduced ability to hydrolyze triglycerides in triglyceride-rich lipoproteins, leading to their accumulation in plasma and subsequent severe hypertriglyceridemia.
“Loss of LPL activity results in a reduced ability to hydrolyze triglycerides in triglyceride-rich lipoproteins, such as intestinally derived chylomicrons and hepatically derived very-low-density lipoproteins, leading to their accumulation in plasma and subsequent severe hypertriglyceridemia. 10-12”
From Olezarsen, Acute Pancreatitis, and Familial Chylomicronemia Syndrome (2024) · cites this paper as [12]
Familial chylomicronemia syndrome is caused by biallelic loss-of-function variants in LPL or in related genes needed for LPL activity.
“The condition is caused by biallelic loss-of-function variants in LPL (encoding lipoprotein lipase) or in related genes needed for LPL activity. 10-12”
From Olezarsen, Acute Pancreatitis, and Familial Chylomicronemia Syndrome (2024) · cites this paper as [12]
Triglyceride levels in individuals with FCS are often 10-fold to 100-fold or more above normal (<150 mg/dL) and may range from 1500 to 15,000 mg/dL or higher.
“Triglyceride (TG) levels in individuals with FCS are often 10-fold to 100-fold or more above normal (,150 mg/dL) and may range from 1500 to 15,000 mg/ dL or higher.4,5”
From Familial chylomicronemia syndrome: Bringing to life dietary recommendations throughout the life span (2018) · cites this paper as [4]
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References 32 · Cited by 130
Research works printed but not linked: 4
- Brahm AJ, Hegele R. Chylomicronaemiadcurrent diagnosis and future therapies. Nat Rev Endocrinol 2015;11(6):352e62.
- Fredrickson DS, Lees RS. A system for phenotyping hyper- lipoproteinemia. Circulation 1965;31:321e7.
- Bruno MJ. Gene therapy coming of age e prevention of acute pancreatitis in lipoprotein lipase deficiency through alipogene tipar- vovec. Eur Gastroenterol Hepatol Rev 2010;6:48e53.
- Banks PA, Bollen TL, Dervenis C, et al. Classification of acute pancreatitisd2012: revision of the Atlanta classification and defini- tions by international consensus. Gut 2013;62:102e11.
- Authors
- Stroes, E., Moulin, P., Parhofer, K. G., Rebours, V., Löhr, J.-M., & Averna, M.
- Affiliations
- Amsterdam UMC Location University of Amsterdam (NL)
- Hôpital Louis Pradel (FR)
- LMU Klinikum (DE)
- Inserm (FR)
- Azienda Ospedaliera Universitaria Policlinico "Paolo Giaccone" di Palermo (IT)
- Corresponding author
- Averna, Maurizio
- Venue
- Atherosclerosis Supplements
- Publisher
- Elsevier BV
- Published
- 2017-01
- Volume
- 23
- Pages
- 1-7
- ISSN
- 1567-5688 (ISSN-L)
- OpenAlex
- W2567623183
- Cited by
- 130
- References
- 32
- Citations by year
- 2026: 3 · 2025: 15 · 2024: 10 · 2023: 11 · 2022: 13 · 2021: 16 · 2020: 19 · 2019: 15 · 2018: 20 · 2017: 8
- FWCI
- 11.82
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Atherosclerosis Supplements (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- HAL (submittedVersion)
- Nova Science Publishers (Nova Science Publishers, Inc.) (submittedVersion, other-oa)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Lymphatic Disorders and Treatments
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Keywords
- familial chylomicronemia syndrome, diagnostic algorithm, severe hypertriglyceridemia, recurrent pancreatitis, genetic lipid disorders, expert consensus, multidisciplinary diagnosis, clinical recognition
- MeSH terms
- Algorithms, Decision Support Techniques, DNA Mutational Analysis, Genetic Markers, Humans, Lipids, Lipoprotein Lipase, Hyperlipoproteinemia Type I, Mutation, Phenotype, Predictive Value of Tests, Prognosis, Biomarkers, Practice Guidelines as Topic, Critical Pathways, Genetic Predisposition to Disease
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