Roundtable on etiology of familial chylomicronemia syndrome
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
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 [3]
Familial chylomicronemia syndrome causes many physical and cognitive complications from sustained chylomicronemia, but recurrent and potentially fatal acute pancreatitis is the most feared complication.
“Although patients with familial chylomicronemia syndrome have many physical and cognitive complications from sustained chylomicronemia, 3,11,28,29 potentially recurrent and even fatal acute pancreatitis is the complication that is most feared.”
From Volanesorsen and Triglyceride Levels in Familial Chylomicronemia Syndrome (2019) · cites this paper as [3]
Cites
Lipoprotein lipase: from gene to obesity
Wang, H., & Eckel, R. H. (2009) · American Journal of Physiology-Endocrinology and Metabolism · doi:10.1152/ajpendo.90920.2008 · Cited by 862 · see citing works
Triglyceride-mediated pathways and coronary disease: collaborative analysis of 101 studies
(2010) · The Lancet · doi:10.1016/s0140-6736(10)60545-4 · Cited by 716 · see citing works
Genetic determinants of plasma triglycerides
Johansen, C. T., Kathiresan, S., & Hegele, R. A. (2010) · Journal of Lipid Research · doi:10.1194/jlr.r009720 · Cited by 258 · see citing works
Self-citationMutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia
Surendran, R. P., Visser, M. E., Heemelaar, S., Wang, J., Peter, J., Defesche, J. C., Kuivenhoven, J. A., Hosseini, M., Péterfy, M., Kastelein, J. J. P., et al. (2012) · Journal of Internal Medicine · doi:10.1111/j.1365-2796.2012.02516.x · Cited by 251 · see citing works
Self-citationGene therapy for lipoprotein lipase deficiency
Gaudet, D., Méthot, J., & Kastelein, J. (2012) · Current Opinion in Lipidology · doi:10.1097/mol.0b013e3283555a7e · Cited by 178 · see citing works
Self-citationAPOA5 and triglyceride metabolism, lesson from human APOA5 deficiency
Calandra, S., Oliva, C. P., Tarugi, P., & Bertolini, S. (2006) · Current Opinion in Lipidology · doi:10.1097/01.mol.0000217892.00618.54 · Cited by 103 · see citing works
Johansen, C. T., Wang, J., Lanktree, M. B., McIntyre, A. D., Ban, M. R., Martins, R. A., Kennedy, B. A., Hassell, R. G., Visser, M. E., Schwartz, S. M., et al. (2011) · Arteriosclerosis, Thrombosis, and Vascular Biology · doi:10.1161/atvbaha.111.226365 · Cited by 97 · see citing works
Self-citationLipase maturation factor 1: A lipase chaperone involved in lipid metabolism
Péterfy, M. (2011) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2011.10.006 · Cited by 85 · see citing works
Dorfmeister, B., Zeng, W. W., Dichlberger, A., Nilsson, S., Schaap, F. G., Hubacek, J. A., Merkel, M., Cooper, J. A., Lõokene, A., Putt, W., et al. (2008) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.108.172866 · Cited by 60 · see citing works
Evans, D., Arzer, J., Aberle, J., & Beil, F. U. (2010) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2010.11.026 · Cited by 40 · see citing works
Apolipoprotein A-V dependent modulation of plasma triacylglycerol: A puzzlement
Sharma, V., Ryan, R. O., & Forte, T. M. (2011) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2011.12.002 · Cited by 35 · see citing works
Hypertriglyceridaemia, LPL deficiency and pancreatitis -pathogenesis and therapeutic options
Munigoti, S. P., & Rees, A. (2011) · The British Journal of Diabetes · doi:10.1177/1474651411413192 · Cited by 7 · see citing works
Flagged first, then by citations
1 of the 13 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Volanesorsen and Triglyceride Levels in Familial Chylomicronemia Syndrome
Witztum, J. L., Gaudet, D., Freedman, S. D., Alexander, V. J., Digenio, A., Williams, K. R., Yang, Q., Hughes, S. G., Geary, R. S., Arca, M., et al. (2019) · New England Journal of Medicine · doi:10.1056/nejmoa1715944 · Cited by 669 · see citing works
“Platelet count decreased 1 (3) 11 (33)”
Self-citationMoulin, P., Dufour, R., Averna, M., Arca, M., Cefalù, A. B., Noto, D., D'Erasmo, L., Di Costanzo, A., Marçais, C., Alvarez-Sala Walther, L. A., et al. (2018) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2018.06.814 · Cited by 247 · see citing works
“Indeed, the condition is very rare and high levels of TGs are more often due to multifactorial chylomicronaemia syndrome (MCS) [8,15].”
BackgroundGouni-Berthold, I., Alexander, V. J., Yang, Q., Hurh, E., Steinhagen-Thiessen, E., Moriarty, P. M., Hughes, S. G., Gaudet, D., Hegele, R. A., O'Dea, L. S. L., et al. (2021) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(21)00046-2 · Cited by 232 · see citing works
Self-citationFamilial chylomicronemia syndrome: an under‐recognized cause of severe hypertriglyceridaemia
Baass, A., Paquette, M., Bernard, S., & Hegele, R. A. (2020) · Journal of Internal Medicine · doi:10.1111/joim.13016 · Cited by 144 · see citing works
Self-citationEsan, O., & Wierzbicki, A. S. (2020) · Drug Design Development and Therapy · doi:10.2147/dddt.s224771 · Cited by 80 · see citing works
RNA Interference Therapy Targeting Apolipoprotein C-III in Hypertriglyceridemia
Gaudet, D., Clifton, P., Sullivan, D., Baker, J., Schwabe, C., Thackwray, S., Scott, R., Hamilton, J., Given, B., Melquist, S., et al. (2023) · NEJM Evidence · doi:10.1056/evidoa2200325 · Cited by 71 · see citing works
Self-citationCurrent Diagnosis and Management of Primary Chylomicronemia
Okazaki, H., Gotoda, T., Ogura, M., Ishibashi, S., Inagaki, K., Daida, H., Hayashi, T., Hori, M., Masuda, D., Matsuki, K., et al. (2021) · Journal of Atherosclerosis and Thrombosis · doi:10.5551/jat.rv17054 · Cited by 44 · see citing works
Reeskamp, L. F., Tromp, T. R., & Stroes, E. S. G. (2020) · Current Opinion in Lipidology · doi:10.1097/mol.0000000000000679 · Cited by 37 · see citing works
“com mentioned genes, via accumulated common smalleffect variants in multiple genes (polygenic hypertriglyceridemia) [14] to multifactorial causes such as lifestyle related factors (high-fat or high-glycemic diet, alcohol consumption, metabolic syndrome, diabetes mellitus type 2) [12 & ].”
BackgroundSafety and efficacy of therapies for chylomicronemia
Shamsudeen, I., & Hegele, R. A. (2022) · Expert Review of Clinical Pharmacology · doi:10.1080/17512433.2022.2094768 · Cited by 37 · see citing works
“Furthermore, the low levels of smaller atherogenic lipoprotein species in FCS does not raise ASCVD risk [20,24].”
BackgroundInfluentialSelf-citationRoundtable discussion: Familial chylomicronemia syndrome: Diagnosis and management
Brown, W. V., Goldberg, I., Duell, B., & Gaudet, D. (2018) · Journal of Clinical Lipidology · doi:10.1016/j.jacl.2018.02.018 · Cited by 21 · see citing works
Self-citationSantos, R. D., Lorenzatti, A. J., Corral, P., Nogueira, J. P., Cafferata, A., Aimone, D., Lourenço, C. M., Izar, M. C. D. O., Lima, J. G., Lottenberg, A. M., et al. (2021) · Journal of clinical lipidology · doi:10.1016/j.jacl.2021.10.004 · Cited by 10 · see citing works
Clinical Lipidology and the Prevention of Vascular Disease: Time for Personalized Therapy
Brown, W. V. (2018) · Clinical Pharmacology & Therapeutics · doi:10.1002/cpt.1127 · Cited by 7 · see citing works
“The elevation into these very high levels is attributable to the accumulation of chylomicrons due to impaired clearance from the plasma by the LPL system.(86) A small minority of these individuals will have major gene defects that are the fundamental cause of failure in LPL function.”
BackgroundSelf-citationPosicionamento Brasileiro sobre Síndrome da Quilomicronemia Familiar – 2023
Izar, M. C. D. O., Santos, R. D., Assad, M. H. V., Chagas, A. C. P., Toledo, A. D. O., Nogueira, A. C. C., Souto, A. C. C. F., Lottenberg, A. M., Chacra, A. P. M., Ferreira, C. E. D. S., et al. (2023) · Arquivos Brasileiros de Cardiologia · doi:10.36660/abc.20230203 · Cited by 7 · see citing works
Bardey, F., Rieck, L., Spira, D., März, W., Binner, P., Schwab, S. K., Kleber, M. E., Danyel, M., Barkowski, R., Bobbert, T., et al. (2024) · Journal of Lipid Research · doi:10.1016/j.jlr.2024.100589 · Cited by 4 · see citing works
“Despite advances in genetic testing, studies consistently report a fraction of about 50% of patients with hyperchylomicronaemic phenotype without a detected genetic cause (1, 5, 12, 15, 17 – 19).”
Influentialden Hollander, B., Brands, M. M. M. G., Nijhuis, I. J. M., van Troostwijk, L. J. A. E. D., van Essen, P., Hofsteenge, G. H., Koot, B. G. P., Müller, A. R., Tseng, L. A., Stroes, E. S. G., et al. (2024) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2024.108347 · Cited by 4 · see citing works
Polygenic Architecture of Common Severe Hypertriglyceridemia
Yamamoto, T., & Gotoda, T. (2020) · Journal of Atherosclerosis and Thrombosis · doi:10.5551/jat.ed133 · Cited by 3 · see citing works
Yoo, J. H. (2025) · Cardiovascular Prevention and Pharmacotherapy · doi:10.36011/cpp.2025.7.e19 · Cited by 1 · see citing works
“Familial chylomicronemia syndrome (FCS) is an ultrarare disorder, with a prevalence estimated at approximately one to two cases per million individuals [1,2].”
Síndrome da Quilomicronemia Familiar
Galvão-Alves, J., Galvão-Alves, M., & Souza, B. (2021) · Anais da Academia Nacional de Medicina · doi:10.52130/27639878-aanm2021v192n3p184-190
- Authors
- Brown, W. V., Gaudet, D., Goldberg, I., & Hegele, R.
- Affiliations
- Emory University (US)
- Génome Québec (CA)
- NYU Langone Health (US)
- Western University (CA)
- Corresponding author
- Brown, William Virgil
- Venue
- Journal of Clinical Lipidology
- Publisher
- Elsevier BV
- Published
- 2018-01
- Volume
- 12
- Issue
- 1
- Pages
- 5-11
- ISSN
- 1876-4789 (ISSN-L)
- 1933-2874
- OpenAlex
- W2908761591
- Cited by
- 18
- References
- 13
- Citations by year
- 2025: 1 · 2024: 2 · 2023: 2 · 2022: 1 · 2021: 4 · 2020: 3 · 2019: 2 · 2018: 3
- FWCI
- 1.69
- 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, plasma triglycerides, genetic etiology, genetic disorders, diabetes mellitus, triglyceride transport, lipid metabolism disorders
- MeSH terms
- Humans, Lipoprotein Lipase, Hyperlipoproteinemia Type I, Triglycerides, Polymorphism, Single Nucleotide, Apolipoprotein C-II, Genome-Wide Association Study
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
