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Cited by 125Lipid metabolism and disordersLymphatic Disorders and TreatmentsClinical Nutrition and Gastroenterology

Familial chylomicronemia syndrome: Bringing to life dietary recommendations throughout the life span

Open access
Williams, Lauren, Rhodes, Katherine S., Karmally, Wahida, Welstead, Lori A., Alexander, Lori, Sutton, Lindsey·2018·Journal of Clinical Lipidology
DOI 10.1016/j.jacl.2018.04.010
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Abstract

BACKGROUND: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder with loss of function mutations of lipoprotein lipase resulting in hypertriglyceridemia and accumulation of chylomicrons in plasma, often leading to acute pancreatitis. The mainstay of treatment is a specialized very-low-fat diet. Even adhering to the diet, some patients may experience high triglycerides and pancreatitis. There currently are no comprehensive dietary guidelines. OBJECTIVE: To report best practices and develop comprehensive dietary guidelines for nutrition therapy in patients with FCS. METHODS: Registered dietitian nutritionists (RDNs) convened to develop this report based on experience treating patients with FCS and a review of current literature on the topic. One author provided a patient perspective of living with FCS. RESULTS: This report provides guidelines and rationales for nutrition therapy associated with FCS across the life span. The top global guidelines are to (1) limit fat to <15 to 20 g per day (<10%-15% of total daily energy intake); (2) meet recommendations for essential fatty acids: α-linolenic acid and linoleic acid; (3) choose complex carbohydrate foods while limiting simple and refined carbohydrate foods; (4) supplement with fat-soluble vitamins, minerals, and medium-chain triglyceride oil, as needed; (5) adjust calories for weight management. Recommended foods include vegetables, whole grains, legumes, lean protein foods, fruits in limited amounts, and fat-free milk products without added sugars. Foods to avoid include alcohol and products high in sugar. CONCLUSIONS: These patient-centered nutrition guidelines provide guidance to help patients adhere to the recommended diet and optimize nutritional needs.

AI snapshot

Written from the paper’s full text.

TL;DR

This expert-panel article provides patient-centered, lifespan dietary guidelines for familial chylomicronemia syndrome (FCS), centered on a very-low-fat diet and multidisciplinary care. It synthesizes literature and clinical experience because no randomized trials exist for this rare disorder.

Key findings

  • The panel recommends a very-low-fat diet of less than 15–20 g fat per day or less than 10%–15% of total daily calories, with fat distributed throughout the day; the target is to maintain triglycerides below 1000 mg/dL, and below 500 mg/dL during pregnancy.
  • Patients should meet essential fatty acid needs at 2%–4% of daily calories, may use medium-chain triglyceride oil to add calories, limit total carbohydrate to no more than 60% of daily calories, avoid added sugars and alcohol, and monitor/supplement fat-soluble vitamins A, D, E, and K as needed.
  • FCS affects 1 to 2 per million people; triglyceride levels may range from 1500 to 15,000 mg/dL or higher, acute pancreatitis was reported by 42% of patients with FCS, and acute pancreatitis risk increases by 4% for every 100 mg/dL rise in triglycerides.
  • Patients report visiting at least 5 physicians (range 1–30) before diagnosis; psychosocial burden includes 22% reporting depressive episodes and only 22% able to sustain full-time employment in an interim analysis.

Methods

  • Design: expert-panel best-practice guidelines developed by registered dietitian nutritionists (RDNs) with experience treating FCS, incorporating the perspective of one patient with FCS.
  • Data/sample: review of current clinical and scientific literature plus personal clinical experience; no randomized controlled trials or meta-analyses were available because of the rarity of FCS.
  • Analysis: consensus recommendations organized across the life span and special populations, including pediatrics, pregnancy, diabetes, acute pancreatitis, and chronic pancreatitis.

Limitations

  • Stated: the guidelines are based on a literature review and expert opinion of RDNs; owing to low FCS prevalence, there are no randomized controlled clinical trials or robust data sets, so recommendations rest on limited observations and clinical experience.
  • Evident from the text: no formal systematic review or prospective validation is described; the patient perspective comes from a single patient; some recommendations are generalized from hypertriglyceridemia rather than FCS-specific (e.g., physical activity); and the work was funded by Akcea Therapeutics, including writing support.

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Integrity signals

Registry

Crossref · 10.1016/j.jacl.2018.04.010

Cites

60 of 60 references verified0 citation errors · 0 not checkable

Statistics

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Claims the paper makes

0 of 79 cited sources checked · 0 supported · 0 flagged

  • Premisecitation
    § Introduction

    Effectiveness of omega-3 fatty acids, routinely used in pharmacologic doses for treatment of severe HTG, has been inconsistent in patients with FCS.

    “Effectiveness of omega-3 fatty acids, routinely used in pharmacologic doses for treatment of severe HTG, has been inconsistent in patients with FCS.3,[16][17][18]20”
    Quote in the paperSubstantial claim0 of 6 sources checked
    • cites [3] Brahm, 2015, Chylomicronaemia–current diagnosis and future therapies, Nat Rev Endocrinol source

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    • cites [16] Helk, 2016, Effects of two therapeutic dietary regimens on primary chylomicronemia in paediatric age: a retrospective data analysis, Eur J Clin Nutr source

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    • cites [17] Yuan, 2007, Hypertriglyceridemia: its etiology, effects and treatment, CMAJ source

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    • cites [18] Connor, 1993, N-3 fatty acids from fish oil. Effects on plasma lipoproteins and hypertriglyceridemic patients, Ann NY Acad Sci source

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    • cites [19] Pschierer, 1995, Primary chylomicronemia in patients with severe familial hypertriglyceridemia responds to long-term treatment with (n-3) fatty acids, J Nutr source

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    • cites [20] Brunzell, 2007, Hypertriglyceridemia, N Engl J Med source

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  • Premisecitation
    § Introduction

    Even when patients adhere to the very-low-fat diet and are monitored by a registered dietitian nutritionist, TG levels may remain dangerously high.

    “Even when patients adhere to the very-low-fat diet and are monitored by a registered dietitian nutritionist (RDN), TG levels may remain dangerously high.3,20,21”
    Quote in the paperSubstantial claim0 of 3 sources checked
    • cites [3] Brahm, 2015, Chylomicronaemia–current diagnosis and future therapies, Nat Rev Endocrinol source

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    • cites [20] Brunzell, 2007, Hypertriglyceridemia, N Engl J Med source

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    • cites [21] Bryant, 2013, Lessons learned from the clinical development and market authorization of Glybera, Hum Gene Ther Clin Dev source

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  • Premisecitation
    § Introduction

    A delay in diagnosis may place patients at an increased risk for acute pancreatitis.

    “A delay in diagnosis may place patients at an increased risk for acute pancreatitis.11”
    Quote in the paperSubstantial claim0 of 1 sources checked
    • cites [11] Berglund, 2012, Endocrine society. Evaluation and treatment of hypertriglyceridemia: An Endocrine Society clinical practice guideline, J Clin Endocrinol Metab source

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  • Premisecitation
    § Introduction

    A lack of familiarity with FCS among health care providers may be one reason patients with FCS report visiting at least 5 physicians (range 1-30) before receiving a diagnosis of FCS.

    “A lack of familiarity with FCS among health care providers may be one reason patients with FCS report visiting at least 5 physicians (range 1-30) before receiving a diagnosis of FCS. 13”
    Quote in the paperNot a substantial claim0 of 1 sources checked
    • cites [13] Davidson, 2017, The burden of familial chylomicronemia syndrome: interim results from the IN-FOCUS study, Expert Rev Cardiovasc Ther source

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  • Premisecitation
    § Dietary guidelines for all patients with FCS

    People with FCS cannot metabolize chylomicron-associated TGs.

    “People with FCS cannot metabolize chylomicron-associated TGs. 5”
    Quote in the paperSubstantial claim0 of 1 sources checked
    • cites [5] Hegele, 2014, The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis and management, Lancet Diabetes Endocrinol source

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  • May combine two claims. 19
  • Classified as probably not a substantial claim. 17

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    Premisecitation
    § Introduction

    Other symptoms of FCS are recurrent pancreatitis, severe abdominal pain ranging from mild to incapacitating (with or without pancreatitis), hepatosplenomegaly, lipemic plasma, eruptive xanthomas, lipemia retinalis, and decreased quality of life.

    “Other symptoms of FCS are recurrent pancreatitis, severe abdominal pain ranging from mild to incapacitating (with or without pancreatitis), hepatosplenomegaly, lipemic plasma, eruptive xanthomas, lipemia retinalis, 1,14,15 and decreased quality of life.13”
    Quote in the paperNot a substantial claim0 of 4 sources checked
    • cites [1] Burnett, 1999, Familial lipoprotein lipase deficiency

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    • cites [14] Brunzell, 2001, Familial lipoprotein lipase deficiency, apo C-II deficiency and hepatic lipase deficiency

      Not checked in the free run.

    • cites [15] Ahmad, 2017, Building a better understanding of the burden of disease in familial chylomicronemia syndrome, Expert Rev Clin Pharmacol source

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    • cites [13] Davidson, 2017, The burden of familial chylomicronemia syndrome: interim results from the IN-FOCUS study, Expert Rev Cardiovasc Ther source

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  • May combine two claims.

    Premisecitation
    § Introduction

    Acute pancreatitis can lead to chronic pancreatitis, signs of exocrine or endocrine pancreatic insufficiency, including pancreatic (type 3c) diabetes, and can be fatal.

    “Acute pancreatitis can lead to chronic pancreatitis, 10,11 signs of exocrine or endocrine pancreatic insufficiency, including pancreatic (type 3c) diabetes, 12 and can be fatal.”
    Quote in the paperNot a substantial claim0 of 3 sources checked
    • cites [10] Yang, 2009, The role of free fatty acids, pancreatic lipase and Ca2+ signalling in injury of isolated acinar cells and pancreatitis model in lipoprotein lipase-deficient mice, Acta Physiol (Oxf) source

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    • cites [11] Berglund, 2012, Endocrine society. Evaluation and treatment of hypertriglyceridemia: An Endocrine Society clinical practice guideline, J Clin Endocrinol Metab source

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    • cites [12] Gaudet, 2013, Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPLS447X) gene therapy for lipoprotein lipase deficiency: An open-label trial, Gene Ther source

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  • Classified as probably not a substantial claim.

    Premisecitation
    § Dietary guidelines for all patients with FCS

    The very-low-fat diet is recommended to reduce TG levels below 1000 mg/dL.

    “The very-low-fat diet is recommended to reduce TG levels below 1000 mg/dL.18”
    Quote in the paperSubstantial claim0 of 1 sources checked
    • cites [18] Connor, 1993, N-3 fatty acids from fish oil. Effects on plasma lipoproteins and hypertriglyceridemic patients, Ann NY Acad Sci source

      Not checked in the free run.

  • May combine two claims.

    Premisecitation
    § Introduction

    Accumulating TGs may impair pancreatic blood flow and activate inflammatory processes, resulting in acute pancreatitis.

    “Accumulating TGs may impair pancreatic blood flow and activate inflammatory processes, resulting in acute pancreatitis. [6][7]7][8]”
    Quote in the paperSubstantial claim0 of 1 sources checked
    • cites [6][7]7][8]

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    Premisecitation
    § Introduction

    Patients with FCS need to avoid drugs known to increase TG levels, including diuretics, systemic steroids, oral estrogens, antihypertensive drugs, retinoids, isotretinoin, bile acid sequestrants, protease inhibitors, immunosuppressants, antidepressants (sertraline), and beta-adrenergic blocking agents.

    “In addition to a restricted diet, patients with FCS need to avoid drugs known to increase TG levels, including diuretics, systemic steroids, oral estrogens, antihypertensive drugs, retinoids, isotretinoin, bile acid sequestrants, protease inhibitors, immunosuppressants, antidepressants (sertraline), and beta-adrenergic blocking agents. 1”
    Quote in the paperSubstantial claim0 of 1 sources checked
    • cites [1] Burnett, 1999, Familial lipoprotein lipase deficiency

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  • Probably not a substantial claim: may not pass S3 (load-bearing).

    Premisecitation
    § Introduction

    Severe HTG is the cause of 10% of all cases of acute pancreatitis.

    “It is estimated that severe HTG is the cause of 10% of all cases of acute pancreatitis.7”
    Quote in the paperNot a substantial claim0 of 1 sources checked
    • cites [7] Valdivielso, 2014, Current knowledge of hypertriglyceridemic pancreatitis, Eur J Intern Med source

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    Premisecitation
    § Introduction

    Patients with HTG-induced acute pancreatitis may have a more severe course, leading to longer median hospital stays, increased need for intensive care, a higher rate of pancreatic necrosis, more frequent persistent organ failure, and higher rates of mortality.

    “acute pancreatitis may have a more severe course, leading to longer median hospital stays, increased need for intensive care, a higher rate of pancreatic necrosis, more frequent persistent organ failure, and higher rates of mortality.9”
    Quote in the paperNot a substantial claim0 of 1 sources checked
    • cites [9] Nawaz, 2015, Elevated serum triglycerides are independently associated with persistent organ failure in acute pancreatitis, Am J Gastroenterol source

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    Premisecitation
    § Introduction

    Acute pancreatitis was reported by 42% of patients with FCS, making it the most common and potentially severe comorbidity.

    “Acute pancreatitis was reported by 42% of patients with FCS, making it the most common and potentially severe comorbidity.13”
    Quote in the paperNot a substantial claim0 of 1 sources checked
    • cites [13] Davidson, 2017, The burden of familial chylomicronemia syndrome: interim results from the IN-FOCUS study, Expert Rev Cardiovasc Ther source

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  • Classified as probably not a substantial claim.

    Premisecitation
    § Introduction

    When LPL is functioning, it helps metabolize TGs into free fatty acids through the LPL-dependent pathway.

    “When LPL is functioning, it helps metabolize TGs into free fatty acids through the LPL-dependent pathway.5”
    Quote in the paperSubstantial claim0 of 1 sources checked
    • cites [5] Hegele, 2014, The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis and management, Lancet Diabetes Endocrinol source

      Not checked in the free run.

  • May combine two claims.

    Premisecitation
    § Introduction

    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”
    Quote in the paperNot a substantial claim0 of 2 sources checked
    • cites [4] Stroes, 2017, Diagnostic algorithm for familial chylomicronemia syndrome, Atheroscler Suppl source

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    • cites [5] Hegele, 2014, The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis and management, Lancet Diabetes Endocrinol source

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  • Probably not a substantial claim: may not pass S3 (load-bearing). May combine two claims.

    Premisecitation
    § Introduction

    Familial chylomicronemia syndrome (FCS) is a rare, autosomal recessive genetic disorder that affects 1 to 2 per million people.

    “Familial chylomicronemia syndrome (FCS) is a rare, autosomal recessive genetic disorder that affects 1 to 2 per million people.1,2”
    Quote in the paperNot a substantial claim0 of 2 sources checked
    • cites [1] Burnett, 1999, Familial lipoprotein lipase deficiency

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    • cites [2] Pouwels, 2008, Severe hypertriglyceridaemia as a result of familial chylomicronaemia: the Cape Town experience, S Afr Med J

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  • Classified as probably not a substantial claim. May combine two claims.

    Premisecitation
    § Carbohydrates

    Overall carbohydrate intake should be limited to <60% daily caloric intake as excess carbohydrates and simple sugar are metabolized into fat, contributing to increased TG levels.

    “Overall carbohydrate intake should be limited based on an individual's needs, and to balance macronutrient intake in diet to ,60% daily caloric intake as excess carbohydrates and simple sugar are metabolized into fat, contributing to increased TG levels.33”
    Quote in the paperSubstantial claim0 of 1 sources checked
    • cites [33] National Cholesterol Education Program (NCEP) Expert Panel on Detection, 2002, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III), Circulation source

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    Premisecitation
    § Dietary guidelines for all patients with FCS

    Dietary fat retains a pivotal role in provision of adequate calories, preventing EFA deficiency, absorption of fat-soluble vitamins, brain development in infants and children, and increasing satiety.

    “Despite the critical need for a very-low-fat intake, dietary fat retains a pivotal role in provision of adequate calories, preventing EFA deficiency, absorption of fat-soluble vitamins, brain development in infants and children, and increasing satiety.24”
    Quote in the paperSubstantial claim0 of 1 sources checked
    • cites [24] Mahan, 2012

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    Premisecitation
    § Fat

    Adequate provision of EFA is necessary to prevent EFA deficiency, characterized by a triene:tetraene ratio of greater than 0.4 or phenotypic signs, including inadequate growth in pediatric patients, dry or dull hair, dry or scaly skin, skin lesions, soft and brittle nails, and impaired wound healing.

    “Adequate provision of EFA is necessary to prevent EFA deficiency, characterized by a triene: tetraene ratio of greater than 0.4 or phenotypic signs, including inadequate growth in pediatric patients, dry or dull hair, dry or scaly skin, skin lesions, soft and brittle nails, and impaired wound healing.25”
    Quote in the paperSubstantial claim0 of 1 sources checked
    • cites [25] McCray, 2011, Nutritional management of chyle leaks: an update, Pract Gastroenterol

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  • May combine two claims.

    Premisereasoning
    § Limitations

    Owing to the low prevalence of FCS, there are no randomized controlled clinical trials or robust data sets.

    “Owing to the low prevalence of FCS, there are no randomized controlled clinical trials or robust data sets.”
    Quote in the paperSubstantial claim

  • May combine two claims.

    Premisecitation
    § Dietary guidelines for all patients with FCS

    Chylomicron concentrations increase as TG levels rise, and both are known causes of acute pancreatitis.

    “Chylomicron concentrations increase as TG levels rise, and both are known causes of acute pancreatitis.7”
    Quote in the paperSubstantial claim0 of 1 sources checked
    • cites [7] Valdivielso, 2014, Current knowledge of hypertriglyceridemic pancreatitis, Eur J Intern Med source

      Not checked in the free run.

  • May combine two claims.

    Premisecitation
    § Fat-soluble vitamin (A, D, E, K) supplementation should be

    Avoidance of alcohol by patients with FCS is important, as it may cause acute exaggerated TG elevations and exacerbations of acute pancreatitis episodes.

    “Avoidance of alcohol by patients with FCS is important, as it may cause acute exaggerated TG elevations and exacerbations of acute pancreatitis episodes.7,36”
    Quote in the paperSubstantial claim0 of 2 sources checked
    • cites [7] Valdivielso, 2014, Current knowledge of hypertriglyceridemic pancreatitis, Eur J Intern Med source

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    • cites [36] Yadav, 2009, Alcohol consumption, cigarette smoking, and the risk of recurrent acute and chronic pancreatitis, Arch Intern Med source

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    Premisecitation
    § Fat-soluble vitamin (A, D, E, K) supplementation should be

    Pediatric requirements for fluid are calculated using a child's body surface area.

    “Pediatric requirements for fluid are calculated using a child's body surface area.40”
    Quote in the paperNot a substantial claim0 of 1 sources checked
    • cites [40] Mosteller, 1987, Simplified calculation of body surface area, N Engl J Med source

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  • Probably not a substantial claim: may not pass S3 (load-bearing). May combine two claims.

    Premisecitation
    § Fat-soluble vitamin (A, D, E, K) supplementation should be

    These may be due to feelings of isolation or due to tiring of following the strict very-low-fat diet.

    “These may be due to feelings of isolation or due to tiring of following the strict verylow-fat diet.42,43”
    Quote in the paperNot a substantial claim0 of 2 sources checked
    • cites [42] Wells, 1998, Alterations in mood after changing to a low-fat diet, Br J Nutr source

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    • cites [43] Brinkworth, 2009, Long-term effects of a very low-carbohydrate diet and a low-fat diet on mood and cognitive function, Arch Intern Med source

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  • May combine two claims.

    Premisecitation
    § Fat

    MCT oil is used to increase overall caloric intake and adjust the macronutrient distribution of the diet, helping to prevent excessive percentage of overall caloric intake from carbohydrate sources.

    “MCT oil is used to increase overall caloric intake and adjust the macronutrient distribution of the diet, helping to prevent excessive percentage of overall caloric intake from carbohydrate sources.28,29”
    Quote in the paperSubstantial claim0 of 2 sources checked
    • cites [28] Ahmad, 2014, Familial chylomicronemia syndrome and response to medium-chain triglyceride therapy in an infant with novel mutations in GPIHBP1, J Clin Lipidol source

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    • cites [29] Bach, 1982, Medium-chain triglycerides: an update, Am J Clin Nutr source

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    Premisecitation
    § Special populations Pregnancy and FCS

    The high TG levels allow the mother to spare glucose for the fetus and allow placental steroidogenesis.

    “The high TG levels allow the mother to spare glucose for the fetus and allow placental steroidogenesis.47”
    Quote in the paperNot a substantial claim0 of 1 sources checked
    • cites [47] Bolla, 2012, Chylomicronemia syndrome in pregnancy: a case report of an acute necrotizing pancreatitis, Geburtshilfe Frauenheilkd source

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  • Classified as probably not a substantial claim.

    Study design and conductreasoning
    § Limitations

    These guidelines are based on limited observations and clinical experience.

    “Thus, these guidelines are based on limited observations and clinical experience.”
    Quote in the paperSubstantial claim

  • Probably not a substantial claim: may not pass S3 (load-bearing).

    Premisecitation
    § Chronic pancreatitis

    EPI occurs when 90% of the pancreatic enzyme output is diminished.

    “EPI occurs when 90% of the pancreatic enzyme output is diminished, 54 and pancreatic enzyme replacement therapies may be necessary in such cases.”
    Quote in the paperNot a substantial claim0 of 1 sources checked
    • cites [54] Ferrone, 2007, Pancreatic enzyme pharmacotherapy, Pharmacotherapy source

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    Premisecitation
    § Fat

    To prevent EFA deficiency, a minimum intake of 2% to 4% daily caloric intake from LA and ALA is recommended.

    “To prevent EFA deficiency, a minimum intake of 2% to 4% daily caloric intake from LA and ALA is recommended.26”
    Quote in the paperSubstantial claim0 of 1 sources checked
    • cites [26] Elmadfa, 2009, Fats and fatty acid requirements for adults, Ann Nutr Metab source

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  • May combine two claims.

    Premisecitation
    § Fat-soluble vitamin (A, D, E, K) supplementation should be

    Metabolic syndrome and insulin resistance may lead to further elevated TG levels, and should be prevented.

    “Metabolic syndrome and insulin resistance may lead to further elevated TG levels, and should be prevented.35”
    Quote in the paperSubstantial claim0 of 1 sources checked
    • cites [35] Miller, 2011, Triglycerides and cardiovascular disease: a scientific statement from the American Heart Association, Circulation source

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  • Classified as probably not a substantial claim.

    Study design and conductreasoning
    § Limitations

    These best practice guidelines are based on a review of the literature and expert opinion of RDNs with experience providing medical nutrition therapy for patients with FCS.

    “These best practice guidelines (summarized in Table 5) are based on a review of the literature and expert opinion of RDNs with experience providing medical nutrition therapy for patients with FCS.”
    Quote in the paperSubstantial claim

  • Probably not a substantial claim: may not pass S2 (checkable), S3 (load-bearing), S4 (based).

    Interpretationnone given
    § Conclusions

    Many families, caregivers, and patients benefit from communicating and connecting with other people with FCS.

    “Many families, caregivers, and patients benefit from communicating and connecting with other people with FCS, which can occur through the FCS Foundation (www. livingwithfcs.org;www.facebook.com/livingwithfcs).”
    Quote in the paperNot a substantial claim

  • Probably not a substantial claim: may not pass S2 (checkable), S4 (based).

    Interpretationreasoning
    § Conclusions

    The support of the health care team or the FCS Foundation may enable patients with FCS to better adhere to and manage the very-low-fat diet.

    “The support of the health care team or the FCS Foundation may enable patients with FCS to better adhere to and manage the very-low-fat diet.”
    Quote in the paperNot a substantial claim
    • Rests on an assumption: The very-low-fat diet is essential for FCS.

  • Probably not a substantial claim: may not pass S2 (checkable), S4 (based).

    Interpretationreasoning
    § Conclusions

    People with FCS who feel empowered to control and individualize their diet to their own tastes and needs may increase their adherence to the very-low-fat diet.

    “It is possible that people with FCS who feel empowered to control and individualize their diet to their own tastes and needs may increase their adherence to the very-low-fat diet.”
    Quote in the paperNot a substantial claim
    • Rests on an assumption: The very-low-fat diet is essential for FCS.

  • May combine two claims.

    Premisecitation
    § Conclusions

    Patients with FCS are at risk for feelings of isolation, tension, anxiety, and development of eating disorders.

    “It is important to consider and discuss the psychosocial implications of dietary management with FCS patients, including risk for feelings of isolation, tension, anxiety, and development of eating disorders.[41][42][43]”
    Quote in the paperSubstantial claim0 of 1 sources checked
    • cites [41][42][43]

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    Premisecitation
    § Conclusions

    Patients with FCS report cognitive symptoms such as impaired memory, difficulty concentrating, fatigue, and weakness.

    “Twenty-two percent of FCS patients reported depressive episodes, and other cognitive symptoms such as impaired memory, difficulty concentrating, fatigue, and weakness.”
    Quote in the paperNot a substantial claim0 of 1 sources checked
    • cites [13] Davidson, 2017, The burden of familial chylomicronemia syndrome: interim results from the IN-FOCUS study, Expert Rev Cardiovasc Ther source

      Not checked in the free run.

  • Probably not a substantial claim: may not pass S2 (checkable), S4 (based).

    Interpretationnone given
    § Conclusions

    Patients with FCS benefit from working with a multidisciplinary team.

    “Patients with FCS benefit from working with a multidisciplinary team.”
    Quote in the paperNot a substantial claim

  • Classified as probably not a substantial claim.

    Premisecitation
    § Conclusions

    This approach empowers patients with FCS to discover and use their own innate ability to gain mastery over their disease.

    “This approach empowers patients with FCS to discover and use their own innate ability to gain mastery over their disease.62”
    Quote in the paperSubstantial claim0 of 1 sources checked
    • cites [62] Anderson, 2010, Patient empowerment: myths and misconceptions, Patient Educ Couns source

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33 of 33

  • The paper relies on this without support.

    FCS is characterized by severe fasting hypertriglyceridemia due to a deficiency in either the enzyme lipoprotein lipase (LPL) or other proteins necessary for proper LPL function.

    “FCS is characterized by severe fasting hypertriglyceridemia (HTG) due to a deficiency in either the enzyme lipoprotein lipase (LPL) or other proteins necessary for proper LPL function.”

  • The paper relies on this without support.

    In FCS, HTG results from the inability to metabolize TGs and other fats.

    “In FCS, HTG results from the inability to metabolize TGs and other fats.”

  • The paper relies on this without support.

    Fats are absorbed through the small intestine, where chylomicrons are formed.

    “Fats are absorbed through the small intestine, where chylomicrons are formed.”

  • The paper relies on this without support.

    Although TGs are also metabolized via the LPL-independent pathway, this pathway cannot compensate for the loss of LPL function.

    “Although TGs are also metabolized via the LPL-independent pathway, this pathway cannot compensate for the loss of LPL function.”

  • The paper relies on this without support.

    In FCS, chylomicrons, chylomicron remnants, and TG-rich lipoproteins cannot be metabolized and accumulate in the plasma.

    “In FCS, chylomicrons, chylomicron remnants, and TGrich lipoproteins cannot be metabolized and accumulate in the plasma.”

  • The paper relies on this without support.

    Acute pancreatitis is one of the severe, debilitating symptoms of FCS.

    “Acute pancreatitis is one of the severe, debilitating symptoms of FCS.”

  • The paper relies on this without support.

    Current medical nutrition therapy for FCS is a very-low-fat diet consisting of total fat intake <10% to 15% daily calories (ie, <15-20 g of fat per day) with limited simple, refined carbohydrates and avoidance of alcohol.

    “Because patients with FCS cannot metabolize TGs and fats, current medical nutrition therapy is a very-low-fat diet consisting of total fat intake ,10% to 15% daily calories (ie, ,15-20 g of fat per day) with limited simple, refined carbohydrates and avoidance of alcohol.”

  • The paper relies on this without support.

    At the present time, there are no Food and Drug Administration-approved treatments for FCS.

    “At the present time, there are no Food and Drug Administration-approved treatments for FCS.”

  • The paper relies on this without support.

    Short-term ingestion of dietary fat, and even limited alcohol consumption, can result in highly exaggerated TG elevations that place patients at high risk for acute pancreatitis, despite otherwise good adherence with the diet.

    “Short-term ingestion of dietary fat, and even limited alcohol consumption, can result in highly exaggerated TG elevations that place patients at high risk for acute pancreatitis, despite otherwise good adherence with the diet.”

  • The paper relies on this without support.

    FCS is diagnosed as severe, refractory HTG in people with a history of acute pancreatitis or recurrent abdominal pain and the absence of other causes (alcoholism, gallstones, uncontrolled diabetes, medications, or medical conditions known to cause HTG).

    “FCS is diagnosed as severe, refractory HTG in people with a history of acute pancreatitis or recurrent abdominal pain and the absence of other causes (alcoholism, gallstones, uncontrolled diabetes, medications, or medical conditions known to cause HTG).”

  • The paper relies on this without support.

    The most distinctive clinical feature of FCS is fasting hyperchylomicronemia, which results in lipemic, milky-appearing plasma samples.

    “The most distinctive clinical feature of FCS is fasting hyperchylomicronemia, which results in lipemic, milkyappearing plasma samples.”

  • The paper relies on this without support.

    There are no randomized controlled trials or meta-analyses, in part due to rareness of the condition.

    “There are also no randomized controlled trials or meta-analyses, in part due to rareness of the condition.”

  • The paper relies on this without support.

    HTG increases the severity of acute pancreatitis.

    “HTG increases the severity of acute pancreatitis.”

  • The paper relies on this without support.

    A nutrition facts label may be rounded and not indicate the absolute amount of fat in foods.

    “It is important to note that a nutrition facts label may be rounded and not indicate the absolute amount of fat in foods.”

  • The paper relies on this without support.

    An individual's recommended fat intake varies based on age and caloric needs, and may need to be modified during pregnancy and for special populations (eg, diabetes).

    “An individual's recommended fat intake varies based on age and caloric needs, and may need to be modified during pregnancy and for special populations (eg, diabetes) as is discussed later in this article.”

  • The paper relies on this without support.

    The body can produce all fatty acids except the EFAs, LA, an omega-6 fatty acid, and ALA, an omega-3 fatty acid.

    “The body can produce all fatty acids except the EFAs, LA, an omega-6 fatty acid, and ALA, an omega-3 fatty acid.”

  • The paper relies on this without support.

    As EFAs, LA and ALA must be ingested by individuals of all ages.

    “As EFAs, LA, and ALA must be ingested by individuals of all ages.”

  • The paper relies on this without support.

    Data is limited in humans regarding the minimum requirements of LA and ALA.

    “Data is limited in humans regarding the minimum requirements of LA and ALA.”

  • The paper relies on this without support.

    Over-the-counter omega-3 or fish oil supplements are not recommended due to lack of regulation by the Food and Drug Administration and lower concentration of eicosapentaenoic acid and docosahexaenoic acid in over-the-counter supplements vs prescription.

    “It is important to note that over-the-counter omega-3 or fish oil supplements are not recommended due to lack of regulation by the Food and Drug Administration and lower concentration of eicosapentaenoic acid and docosahexaenoic acid in over-thecounter supplements vs prescription.”

  • The paper relies on this without support.

    MCT oil is a medical food available via prescription and should not be confused with coconut oil, which provides additional long-chain triglyceride (LCT) as well as lauric acid (C12).

    “MCT oil is a medical food available via prescription and should not be confused with coconut oil, which provides additional long-chain triglyceride (LCT) as well as lauric acid (C12).”

  • The paper relies on this without support.

    Much of lauric acid is absorbed via the chylomicron-dependent pathway.

    “It is important to note that much of lauric acid is absorbed via the chylomicron-dependent pathway.”

  • The paper relies on this without support.

    Coconut oil has both medium-chain and long-chain fatty acids, whereas medical grade MCT oil contains only medium-chain fatty acids (ie, C8 and C10).

    “Coconut oil has both medium-chain and long-chain fatty acids, whereas medical grade MCT oil contains only medium-chain fatty acids (ie, C8 and C10).”

  • The paper relies on this without support.

    MCT oils sold over the counter may also contain lauric acid and are not recommended for consumption by patients with FCS.

    “MCT oils sold over the counter may also contain lauric acid and are not recommended for consumption by patients with FCS.”

  • The paper relies on this without support.

    Low-fat or fat-free, protein-rich foods allow individuals to meet their specific protein requirements while maintaining overall recommended fat restriction.

    “Low-fat or fat-free, protein-rich foods allow individuals to meet their specific protein requirements while maintaining overall recommended fat restriction.”

  • The paper relies on this without support.

    Protein-rich foods high in unsaturated fat, such as salmon, nuts, and seeds, would not be appropriate in the recommended diet as long-chain saturated fat, trans fat, and unsaturated fat are all metabolized using the LPL-dependent pathway.

    “It is important to note that protein-rich foods high in unsaturated fat, such as salmon, nuts, and seeds, would not be appropriate in the recommended diet as long-chain saturated fat, transfat, and unsaturated fat are all metabolized using the LPL-dependent pathway.”

  • The paper relies on this without support.

    Alcohol interferes with normal TG metabolism and promotes the accumulation of fat in the liver, which subsequently leads to increase in blood chylomicron levels and HTG.

    “Alcohol interferes with normal TG metabolism and promotes the accumulation of fat in the liver, which subsequently leads to increase in blood chylomicron levels and HTG.”

  • The paper relies on this without support.

    Individuals with FCS must maintain adequate fluid intake to assist in maintaining hydration and proper pancreatic function.

    “Individuals with FCS must maintain adequate fluid intake to assist in maintaining hydration and proper pancreatic function.”

  • The paper relies on this without support.

    Water intake is necessary for digestion.

    “Water intake is necessary for digestion.”

  • The paper relies on this without support.

    Patients with FCS have a higher risk of complications, especially acute pancreatitis during pregnancy.

    “Patients with FCS have a higher risk of complications, especially acute pancreatitis during pregnancy.”

  • The paper relies on this without support.

    This patient population is at risk for malabsorption and impaired insulin and glucagon secretion due to loss of exocrine and endocrine function.

    “This patient population is at risk for malabsorption and impaired insulin and glucagon secretion due to loss of exocrine and endocrine function.”

  • The paper relies on this without support.

    Patients with pancreatogenic diabetes have impaired metabolism of fats, which may result in deficiencies in fat-soluble vitamins, particularly vitamin D.

    “Patients with pancreatogenic diabetes have impaired metabolism of fats, which may result in deficiencies in fat-soluble vitamins, particularly vitamin D.”

  • The paper relies on this without support.

    Glycemic control is an important part of TG reduction, as well as prevention of diabetes-related complications.

    “Glycemic control is an important part of TG reduction, as well as prevention of diabetes-related complications.”

  • The paper relies on this without support.

    Recurrent acute pancreatitis from persistently elevated TGs increases the risk of chronic pancreatitis due to irreversible damage to the pancreas.

    “Recurrent acute pancreatitis from persistently elevated TGs increases the risk of chronic pancreatitis due to irreversible damage to the pancreas.”

  • The paper relies on this without support.

    Patients exhibiting gastrointestinal symptoms of diarrhea, gas, bloating, and unexplained weight loss may be at risk for exocrine pancreatic insufficiency.

    “Patients exhibiting gastrointestinal symptoms of diarrhea, gas, bloating, and unexplained weight loss may be at risk for exocrine pancreatic insufficiency (EPI).”

  • The paper relies on this without support.

    At this time, the percentage of patients with FCS who develop EPI and chronic pancreatitis is unknown.

    “At this time, the percentage of patients with FCS who develop EPI and chronic pancreatitis is unknown.”

  • The paper relies on this without support.

    Diet and lifestyle are the mainstays of FCS management to decrease TG levels and reduce the likelihood of pancreatitis.

    “Diet and lifestyle are the mainstays of FCS management to decrease TG levels and reduce the likelihood of pancreatitis.”

  • The paper relies on this without support.

    Even with strict diet adherence, some patients still experience acute pancreatitis, elevated TGs, and other complications, and struggle with daily discomfort.

    “Even with strict diet adherence, some patients still experience acute pancreatitis, elevated TGs, and other complications, and struggle with daily discomfort.”

  • The paper relies on this without support.

    TGs below 2000 mg/dL may prevent pain in some patients with FCS.

    “TGs below 2000 mg/dL may prevent pain in some patients, and maintenance of TGs below 1000 mg/dL is the target for patients with FCS.”

  • The paper relies on this without support.

    The very-low-fat diet is essential for FCS.

    “These guidelines are intended to help RDNs, clinicians, patients with FCS, their families, and caregivers manage the very-low-fat dietary pattern essential for FCS.”
39 of 39

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?

  • Severely fat-restricted diets may be useful to reduce chylomicronemia and hypertriglyceridemia but are difficult to maintain in the long term.

    “Severely fat-restricted diets may be useful to reduce chylomicronemia and hypertriglyceridemia but are difficult to maintain in the long term. 16”

    From Olezarsen, Acute Pancreatitis, and Familial Chylomicronemia Syndrome (2024) · cites this paper as [16]

Cites

Flagged first, then by citations

2 of the 62 references couldn’t be matched to a known paper.

Research works printed but not linked: 2

  1. McCray, 2011, Nutritional management of chyle leaks: an update, Pract Gastroenterol, 35, 12
  2. Tenner, 2013, American College of Gastroenterology Guideline: Management of Acute Pancreatitis, Am J Gastroenterol, 22, 433

Cited by

Sorted by citations

Related

Authors
Williams, L., Rhodes, K. S., Karmally, W., Welstead, L. A., Alexander, L., & Sutton, L.
Affiliations
  • Cook Children's Medical Center (US)
  • Michigan Medicine (US)
  • Columbia University (US)
  • University of Chicago (US)
  • Jacksonville Center for Clinical Research (US)
Corresponding author
Williams, Lauren
ORCID
Venue
Journal of Clinical Lipidology
Publisher
Elsevier BV
Published
2018-07
Volume
12
Issue
4
Pages
908-919
ISSN
  • 1876-4789 (ISSN-L)
  • 1933-2874
DOI
10.1016/j.jacl.2018.04.010
OpenAlex
W2802917102
Semantic Scholar
586a80b6c372497b316fad44f6486f8338a7fdf7
Cited by
125
References
62
Citations by year
2026: 15 · 2025: 23 · 2024: 22 · 2023: 19 · 2022: 12 · 2021: 13 · 2020: 9 · 2019: 8 · 2018: 4
FWCI
6.51
Type
journal article
Language
en
Open access
Licence
Locations
  • Journal of clinical lipidology (publishedVersion, cc-by-nc-nd)
  • PubMed (publishedVersion)
Funders
Ionis Pharmaceuticals
Topics
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
  • Health Sciences › Medicine › Surgery › Lymphatic Disorders and Treatments
  • Health Sciences › Nursing › Nutrition and Dietetics › Clinical Nutrition and Gastroenterology
Keywords
familial chylomicronemia syndrome, lipoprotein lipase deficiency, very low-fat diet, nutritional therapy, dietary guidelines, hypertriglyceridemia, pancreatitis, essential fatty acids, medium-chain triglyceride oil, fat-soluble vitamins, carbohydrate intake, weight management, patient-centered care
MeSH terms
Energy Intake, Humans, Life Style, Hyperlipoproteinemia Type I, Longevity, Pancreatitis, Guidelines as Topic, Diet, Fat-Restricted, Nutrition Therapy

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