Meet Jeff

A person living with FCS. In this new video, Jeff talks about his health challenges, the benefits of getting a diagnosis, the strength he derives from his family, and the reality that not everyone clinically diagnosed with FCS receives a positive genetic confirmation.

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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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