Meet Eli

Meet Eli and his parents, Ann Marie and Ron. Eli and his brother Ethan were both diagnosed with FCS as children.

Ann Marie and Ron realized something was different when they saw blood in Eli’s stool as a six-month-old baby. Years later, Ann Marie received the call she had been dreading for 18 years when Eli experienced his first episode of pancreatitis.

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Laufs U, Parhofer KG, Ginsberg HN, Hegele RA. Clinical review on triglycerides. Eur Heart J. 2020;4(1):99-109c.
Ginsberg HN, Packard CJ, Chapman MJ, et al. Triglyceride-rich lipoproteins and their remnants: metabolic insights, role in atherosclerotic cardiovascular disease, and emerging therapeutic strategies-a consensus statement from the European Atherosclerosis Society. Eur Heart J. 2021;42(47):4791-806.
Virani SS, Morris PB, Agarwala A, et al. 2021 ACC expert consensus decision pathway on the management of ASCVD risk reduction in patients with persistent hypertriglyceridemia: A report of the American College of Cardiology solution set oversight committee. J Am Coll Cardiol. 2021.
Nordestgaard BG, Varbo A. Triglycerides and cardiovascular disease. Lancet. 2014;384(9943):626-35.
Packard CJ. Remnants, LDL, and the quantification of lipoprotein-associated risk in atherosclerotic cardiovascular eisease. Curr Atheroscler Rep. 2022;24(1534-6242 (Electronic)):133-42.
Wang Y. Higher fasting triglyceride predicts higher risks of diabetes mortality in US adults. Lipids Health Dis. 2021;20(1):181.
Grundy SM, Stone NJ, Bailey AL, et al. 2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA guideline on the management of blood cholesterol: A report of the American College of Cardiology/American Heart Association task force on clinical practice guidelines. J Am Coll Cardiol. 2019;73(24):e285-e350.
Chyzhyk V, Brown AS. Familial chylomicronemia syndrome: A rare but devastating autosomal recessive disorder characterized by refractory hypertriglyceridemia and recurrent pancreatitis. Trends Cardiovasc Med. 2020;30(2):80-5.
Lifestyle changes to reduce triglycerides: Advice from the National Lipid Association clinician’s lifestyle modification toolbox. In: Association NL, editor.
Santos-Baez LS, Ginsberg HN. Hypertriglyceridemia-causes, significance, and approaches to therapy. Front Endocrinol (Lausanne). 2020;11:616.
Sandesara PB, Virani SS, Fazio S, Shapiro MD. The forgotten lipids: Triglycerides, remnant cholesterol, and atherosclerotic cardiovascular disease risk. Endocr Rev. 2019;40(2):537-57.
Carrasquilla GD, Christiansen MR, Kilpeläinen TO. The Genetic Basis of Hypertriglyceridemia. Curr Atheroscler Rep. 2021;23(8):39.
Dron JS, Dilliott AA, Lawson A, et al. Loss-of-function CREB3L3 variants in patients with severe hypertriglyceridemia. Arterioscler Thromb Vasc Biol. 2020;40(8):1935-41.
Javvaji A, Can AS, Sharma S. Dysbetalipoproteinemia. In: StatPearls. Treasure Island (FL): StatPearls Publishing; February 2, 2024.
Moulin P, Dufour R, Averna M, et al. Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an “FCS score”. Atherosclerosis. 2018;275:265-72.
Nawaz H, Koutroumpakis E, Easler J, et al. Elevated serum triglycerides are independently associated with persistent organ failure in acute pancreatitis. Am J Gastroenterol. 2015;110(10):1497-503.
Stroes E, Moulin P, Parhofer KG, Rebours V, Löhr JM, Averna M. Diagnostic algorithm for familial chylomicronemia syndrome. Atheroscler Suppl. 2017;23:1-7.
Bedogni G, Bellentani S, Miglioli L, et al. The Fatty Liver Index: a simple and accurate predictor of hepatic steatosis in the general population. BMC Gastroenterol. 2006;6:33.
Koehler EM, Schouten JN, Hansen BE, Hofman A, Stricker BH, Janssen HL. External validation of the fatty liver index for identifying nonalcoholic fatty liver disease in a population-based study. Clin Gastroenterol Hepatol. 2013;11(9):1201-4.
Nivukoski U, Niemelä M, Bloigu A, et al. Combined effects of lifestyle risk factors on fatty liver index. BMC Gastroenterol. 2020;20(1):109.
Paquette M, Bernard S. The evolving story of multifactorial chylomicronemia syndrome. Front Cardiovasc Med. 2022;9:886266.
Vincent AM, Hinder LM, Pop-Busui R, Feldman EL. Hyperlipidemia: a new therapeutic target for diabetic neuropathy. J Peripher Nerv Syst. 2009;14(4):257-67.
Benefits of physical activity. Centers for Disease Control and Prevention. Accessed August 2, 2023. https://www.cdc.gov/physicalactivity/basics/pa-health/index.htm.
Tari AR, Nauman J, Zisko N, et al. Temporal changes in cardiorespiratory fitness and risk of dementia incidence and mortality: a population-based prospective cohort study. Lancet Public Health. 2019;4(11):e565-e74.
Whole person health: What you need to know. National Center for Complementary and Integrative Health. Accessed May 19, 2023. https://www.nccih.nih.gov/health/whole-person-health-what-you-need-to-know.
Berglund L, Brunzell J, Sacks FM. Patient information page from The Hormone Foundations. Patient guide to the assessment and treatment of hypertriglyceridemia (high triglycerides). J Clin Endocrinol Metab. 2012;97(9):31a-2a.
Ito MK. Patient-centered care. In: Gogia S, editor. Fundamentals of telemedicine and telehealth: Academic Press; 2020.
Barry MJ, Edgman-Levitan S. Shared decision making–pinnacle of patient-centered care. N Engl J Med. 2012;366(9):780-1.
Elwyn G, Frosch D, Thomson R, et al. Shared decision making: a model for clinical practice. J Gen Intern Med. 2012;27(10):1361-7.
Jacobson TA, Maki KC, Orringer CE, et al. National Lipid Association recommendations for patient-centered management of dyslipidemia: Part 2. J Clin Lipidol. 2015;9(6 Suppl):S1-122.e1.
Banerji A, Anderson J, Johnston DT. Optimal management of hereditary angioedema: Shared decision-making. J Asthma Allergy. 2021;14:119-25.
Zeman H, Cavanaugh E, Metallinos-Katsaras E, Ireland K, Pojednic R. Improved long-term outcomes in high-risk patients receiving registered dietitian nutritionist care. Endo and Metabol Sci. 2021;2:100078.
Morrell J, Wierzbicki T. 10 Steps before you refer for: Lipids. Br J Cardiol. 2009;16:242-5.
How can gene variants affect health and development? MedlinePlus, National Institutes of Health / National Library of Medicine. Accessed April 12, 2024. https://medlineplus.gov/genetics/understanding/mutationsanddisorders/mutationscausedisease/.
Autosomal recessive inheritance. NSW Government Health Centre for Genetics Education. Accessed November 14, 2023. https://www.genetics.edu.au/SitePages/Autosomal-recessive-inheritance.aspx.
Davidson M, Stevenson M, Hsieh A, et al. The burden of familial chylomicronemia syndrome: Results from the global IN-FOCUS study. J Clin Lipidol. 2018;12(4):898-907.e892.
Brahm AJ, Hegele RA. Chylomicronaemia–current diagnosis and future therapies. Nat Rev Endocrinol. 2015;11(6):352-362.
Williams L, Rhodes KS, Karmally W, Welstead LA, Alexander L, Sutton L. Familial chylomicronemia syndrome: Bringing to life dietary recommendations throughout the life span. J Clin Lipidol. 2018;12(4):908-19.
Lipid panel. Cleveland Clinic. Accessed May 7, 2024. https://my.clevelandclinic.org/health/diagnostics/17176-lipid-panel.
Triglycerides. Cleveland Clinic. Accessed May 8, 2024. https://my.clevelandclinic.org/health/articles/11117-triglycerides.
What is a gene? MedlinePlus, National Institutes of Health / National Library of Medicine. Accessed May 7, 2024. https://medlinepus.gov/genetics/understanding/basics/gene/.
Triglycerides. MedlinePlus. Accessed May 8, 2024. https://medlineplus.gov/triglycerides.html.
Genetic testing. Taber’s Online Medical Dictionary. Accessed March 13, 2024. https://www.tabers.com/tabersonline/view/Tabers-Dictionary/737301/all/genetic_testing

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