Roundtable discussion: Familial chylomicronemia syndrome: Diagnosis and management
Abstract
Plasma triglyceride concentrations are normally below 150 mg/dL in the fasting state. However, these lipids can reach values of several thousand mg/dL. Elevations in this range are due to a massive retention of chylomicrons and usually result from multiple genetic variants with superimposed influences such as diabetes and immune disorders. Less commonly, major gene defects in lipoprotein metabolism can be the cause. These may present soon after birth with strong evidence of familial penetrance. The causes of this syndrome have been discussed in a Roundtable published in the most recent issue of this Journal. The polygenic etiology may also have a familial presentation with similar clinical import. The diagnosis and management of these disorders is of importance since they can lead to critical clinical syndromes including death from acute hemorrhagic pancreatitis. The chronic management requires a dedicated medical team and a patient committed to an effective regimen. We are joined in this discussion by Dr P. Barton Duell, University of Oregon Health Sciences Center, and Dr Daniel Gaudet of the Université de Montreal, Montreal, Quebec. All have had extensive personal experience in the diagnosis and management of patients with familial chylomicronemia. This Roundtable was recorded on November 11, 2017, during a meeting of the National Lipid Association in New Orleans, Louisiana.
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The sole long-term treatment is dietary fat restriction to less than 10 to 15% of daily calories (15 to 20 g/day), which frequently fails to prevent chylomicronemia and acute pancreatitis.
“the only current long-term therapy is restriction of total fat intake to less than 10 to 15% of daily calories (15 to 20 g per day), which is often ineffective in preventing chylomicronemia and acute pancreatitis.2,3,11,12”
From Volanesorsen and Triglyceride Levels in Familial Chylomicronemia Syndrome (2019) · cites this paper as [12]
Fibrates, n-3 fatty acids, and statins depend on LPL activity, hepatic VLDL output inhibition, or both, and are largely ineffective in familial chylomicronemia syndrome.
“Because traditional triglyceride-lowering therapies such as fibrates, n-3 fatty acids, and statins depend on LPL activity, inhibition of hepatic VLDL output, or both, they are largely ineffective in familial chylomicronemia syndrome, as evidenced by the fact that half the patients in this trial were receiving one or more of these agents at the time they were recruited.12”
From Volanesorsen and Triglyceride Levels in Familial Chylomicronemia Syndrome (2019) · cites this paper as [12]
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Targeting APOC3 in the familial chylomicronemia syndrome
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Self-citationANGPTL3 inhibition in homozygous familial hypercholesterolemia
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Flagged first, then by citations
- Authors
- Brown, W. V., Goldberg, I., Duell, B., & Gaudet, D.
- Affiliations
- Emory University (US)
- NYU Langone Health (US)
- Université de Montréal (CA)
- Corresponding author
- Brown, William Virgil
- Venue
- Journal of Clinical Lipidology
- Publisher
- Elsevier BV
- Published
- 2018-03
- Volume
- 12
- Issue
- 2
- Pages
- 254-263
- ISSN
- 1876-4789 (ISSN-L)
- 1933-2874
- OpenAlex
- W2787971106
- Cited by
- 21
- References
- 14
- Citations by year
- 2025: 2 · 2023: 1 · 2022: 1 · 2021: 5 · 2020: 3 · 2019: 6 · 2018: 3
- FWCI
- 3.21
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of clinical lipidology (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 › Lipoproteins and Cardiovascular Health
- Keywords
- familial chylomicronemia syndrome, hypertriglyceridemia, chylomicrons, lipoprotein metabolism, genetic variants, hemorrhagic pancreatitis, diagnosis, management, diabetes mellitus, immune disorders
- MeSH terms
- Chylomicrons, Diabetes Mellitus, Humans, Hyperlipoproteinemia Type I, Lipoproteins, Reference Values, Triglycerides, Hypertriglyceridemia
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