We have evaluated dietary recommendations for people diagnosed with familial hypercholesterolaemia (FH), a genetic condition in which increased low-density lipoprotein cholesterol (LDL-C) is associated with an increased risk for coronary heart disease (CHD). Recommendations for FH individuals have emphasised a low saturated fat, low cholesterol diet to reduce their LDL-C levels. The basis of this recommendation is the ‘diet-heart hypothesis’, which postulates that consumption of food rich in saturated fat increases serum cholesterol levels, which increases risk of CHD. We have challenged the rationale for FH dietary recommendations based on the absence of support for the diet-heart hypothesis, and the lack of evidence that a low saturated fat, low cholesterol diet reduces coronary events in FH individuals. As an alternative approach, we have summarised research which has shown that the subset of FH individuals that develop CHD exhibit risk factors associated with an insulin-resistant phenotype (elevated triglycerides, blood glucose, haemoglobin A1c (HbA1c), obesity, hyperinsulinaemia, high‐sensitivity C reactive protein, hypertension) or increased susceptibility to develop coagulopathy. The insulin-resistant phenotype, also referred to as the metabolic syndrome, manifests as carbohydrate intolerance, which is most effectively managed by a low carbohydrate diet (LCD). Therefore, we propose that FH individuals with signs of insulin resistance should be made aware of the benefits of an LCD. Our assessment of the literature provides the rationale for clinical trials to be conducted to determine if an LCD would prove to be effective in reducing the incidence of coronary events in FH individuals which exhibit an insulin-resistant phenotype or hypercoagulation risk.
- nutritional sciences
- cardiovascular diseases
- disease management
- evidence-based practice
- integrative medicine
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Contributors DMD wrote the first draft of this manuscript. All other authors provided critical reviews, commentaries and corrections.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors. The open access publication cost was provided by the Western Vascular Institute, LTD., a not for profit organization and CrossFit, Inc.
Competing interests DMD is a member of the science advisory board for Anutra and has received honoraria from Pruvit. ZH receives royalties for books/content on diet and health. MK receives royalties for books on cholesterol and related medical issues. AAA donates royalties from his diet book to charity. UR receives royalties for books on diet and cholesterol. JV receives royalties for low-carbohydrate nutrition books. He is founder, consultant, and stockholder of Virta Health; a member of the advisory boards for Atkins Nutritionals Inc., UCAN, Ketone Sciences, and Axcess Global; and has received honoraria from Metagenics and Pruvit.
Patient consent for publication Not required.
Provenance and peer review Not commissioned; externally peer reviewed.
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