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Adults with familial hypercholesterolaemia have healthier dietary and lifestyle habits compared with their non-affected relatives: the SAFEHEART study

  • Raquel Arroyo-Olivares (a1), Rodrigo Alonso (a1) (a2), Gracia Quintana-Navarro (a3), Francisco Fuentes-Jiménez (a3), Nelva Mata (a1) (a4), Ovidio Muñiz-Grijalvo (a5), José L Díaz-Díaz (a6), Daniel Zambón (a7), Francisco Arrieta (a8), Jesús García-Cruces (a1) (a9), Juan A Garrido-Sanjuan (a10), José R Banegas (a11) and Pedro Mata (a1)...



Healthy lifestyle habits are the cornerstone in the management of familial hypercholesterolaemia (FH). Nevertheless, dietary studies on FH-affected populations are scarce. The present study analyses dietary habits, adherence to a Mediterranean diet pattern and physical activity in an adult population with FH and compares them with their non-affected relatives.


Cross-sectional study.


Data came from SAFEHEART, a nationwide study in Spain.


Individuals (n 3714) aged ≥18 years with a genetic diagnosis of FH (n2736) and their non-affected relatives (n 978). Food consumption was evaluated using a validated FFQ.


Total energy intake was lower in FH patients v. non-affected relatives (P<0·005). Percentage of energy from fats was also lower in the FH population (35 % in men, 36 % in women) v. those non-affected (38 % in both sexes, P<0·005), due to the lower consumption of saturated fats (12·1 % in FH patients, 13·2 % in non-affected, P<0·005). Consumption of sugars was lower in FH patients v. non-affected relatives (P<0·05). Consumption of vegetables, fish and skimmed milk was higher in the FH population (P<0·005). Patients with FH showed greater adherence to a Mediterranean diet pattern v. non-affected relatives (P<0·005). Active smoking was lower and moderate physical activity was higher in people with FH, especially women (P<0·005).


Adult patients with FH report healthier lifestyles than their non-affected family members. They eat a healthier diet, perform more physical activity and smoke less. However, this patient group’s consumption of saturated fats and sugars still exceeds guidelines.


Corresponding author

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1. Goldstein, JL, Hobbs, HH & Brown, MS (2001) Familial hypercholesterolemia. In The Metabolic and Molecular Basis of Inherited Disease, vol. II, pp. 28632913 [CR Scriver, AL Beaudet, WS Sly et al., editors]. New York: McGraw-Hill.
2. Alonso, R, Mata, N, Castillo, S et al. (2008) Cardiovascular disease in familial hypercholesterolaemia: influence of low-density lipoprotein receptor mutation type and classic risk factors. Atherosclerosis 200, 315321.
3. Pimstone, SN, Sun, XM, du Souich, C et al. (1998) Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada. Arterioscler Thromb Vasc Biol 18, 309315.
4. Slimane, MN, Lestavel, S, Sun, X et al. (2001) Fh-Souassi: a founder frameshift mutation in exon 10 of the LDL-receptor gene, associated with a mild phenotype in Tunisian families. Atherosclerosis 154, 557565.
5. Jansen, AC, van Wissen, S, Defesche, JC et al. (2002) Phenotypic variability in familial hypercholesterolaemia: an update. Curr Opin Lipidol 13, 165171.
6. Pérez de Isla, L, Alonso, R, Mata, N et al. (2017) Predicting cardiovascular events in familial hypercholesterolemia: the SAFEHEART registry. Circulation 135, 21332144.
7. Estruch, R, Ros, E, Salas-Salvadó, J et al. (2018) Primary prevention of cardiovascular disease with a Mediterranean diet supplemented with extra-virgin olive oil or nuts. N Engl J Med 378, e34.
8. Mente, A, de Koning, L, Shannon, HS et al. (2009) A systematic review of the evidence supporting a causal link between dietary factors and coronary heart disease. Arch Intern Med 169, 659669.
9. Dehghan, M, Mente, A, Zhang, X et al. (2017) Associations of fats and carbohydrate intake with cardiovascular disease and mortality in 18 countries from five continents (PURE): a prospective cohort study. Lancet 390, 20502062.
10. Tonstad, S, Leren, TP, Sivertsen, M et al. (1995) Determinants of lipid levels among children with heterozygous familial hypercholesterolemia in Norway. Arterioscler Thromb Vasc Biol 15, 10091014.
11. Torvik, K, Narverud, I, Ottestad, I et al. (2016) Dietary counseling is associated with an improved lipid profile in children with familial hypercholesterolemia. Atherosclerosis 252, 2127.
12. Mata, P, Alonso, R, Ruiz, A et al. (2015) Diagnóstico y tratamiento de la hipercolesterolemia familiar en España: documento de consenso. Aten Prim 47, 5665.
13. Mata, P, Alonso, R & Pérez-Jiménez, F (2014) Screening for familial hypercholesterolemia: a model for preventive medicine. Rev Esp Cardiol 67, 685688
14. Saltijeral, A, Pérez de Isla, L, Alonso, R et al. (2017) Attainment of LDL cholesterol treatment goals in children and adolescents with familial hypercholesterolemia. The SAFEHEART follow-up registry. Rev Esp Cardiol 70, 444450.
15. Watts, GF, Gidding, S, Wierzbicki, AS et al. (2014) Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. Int J Cardiol 171, 309325.
16. Nordestgaard, BG, Chapman, MJ, Humphries, SE et al. (2013) Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J 34, 3478a3490a.
17. Mata, N, Alonso, R, Badimón, L et al. (2011) Clinical characteristics and evaluation of LDL-cholesterol treatment of the Spanish Familial Hypercholesterolemia Longitudinal Cohort Study (SAFEHEART). Lipids Health Dis 10, 94.
18. Willett, W (2012 ) Nutritional Epidemiology , 3rd ed. New York: Oxford University Press.
19. Vázquez, C, Alonso, R, Garriga, M et al. (2012) Validation of a food frequency questionnaire in Spanish patients with familial hypercholesterolaemia. Nutr Metab Cardiovasc Dis 22, 836842.
20. Schröder, H, Fitó, M, Estruch, R et al. (2011) A short screener is valid for assessing Mediterranean diet adherence among older Spanish men and women. J Nutr 141, 11401145.
21. Estruch, R, Martínez-González, MA, Corella, D et al. (2006) Effects of a Mediterranean-style diet on cardiovascular risk factors: a randomized trial. Ann Intern Med 145, 111.
22. Moreiras, O, Carbajal, A, Cabrera, L et al. (2013) Tablas de Composición de Alimentos y Guía de Prácticas. Madrid: Ediciones Pirámide (Grupo Anaya, SA).
23. Martínez-González, MA, Fernández-Jarne, E, Serrano-Martínez, M et al. (2004) Development of a short dietary intake questionnaire for the quantitative estimation of adherence to a cardioprotective Mediterranean diet. Eur J Clin Nutr 58, 15501552.
24. Rütten, A, Ziemainz, H, Schena, F et al. (2003) Using different physical activity measurements in eight European countries. Results of the European Physical Activity Surveillance System (EUPASS) time series survey. Public Health Nutr 6, 371376.
25. Serra-Majem, L, Aranceta, J & SENC Working Group on Nutritional Objectives for the Spanish Population, Spanish Society of Community Nutrition (2001) Nutritional objectives for the Spanish population. Consensus from the Spanish Society of Community Nutrition. Public Health Nutr 4, 14091413.
26. Sacks, FM, Lichtenstein, AH, Wu, JHY et al. (2017) Dietary fats and cardiovascular disease: a presidential advisory from the American Heart Association. Circulation 136, e1e23.
27. Aranceta-Bartrina, J, Pérez-Rodrigo, C, Alberdi-Aresti, G et al. (2016) Prevalence of general obesity and abdominal obesity in the Spanish adult population (aged 25–64 years) 2014–2015: the ENPE study. Rev Esp Cardiol 69, 579587.
28. Mata, P, Ordovas, JM, Lopez-Miranda, J et al. (1994) ApoA-IV phenotype affects diet-induced plasma LDL cholesterol lowering. Arterioscler Thromb 14, 884891.
29. Ruiz, E, Ávila, JM, Valero, T et al. (2015) Energy intake, profile, and dietary sources in the Spanish population: findings of the ANIBES study. Nutrients 7, 47394762.
30. Banegas, JR, Graciani, A, Guallar-Castillón, P et al. (2011) Estudio de Nutrición y Riesgo Cardiovascular en España (ENRICA). Madrid: Departamento de Medicina Preventiva y Salud Pública, Universidad Autónoma de Madrid.
31. León-Muñoz, LM, Guallar-Castillón, P, Graciani, A et al. (2012) Adherence to the Mediterranean diet pattern has declined in Spanish adults. J Nutr 142, 18431850.
32. Molven, I, Retterstøl, K, Andersen, LF et al. (2013) Children and young adults with familial hypercholesterolaemia (FH) have healthier food choices particularly with respect to dietary fat sources compared with non-FH children. J Nutr Sci 2, e32.
33. Foscolou, A, Georgousopoulou, E, Magriplis, E et al. (2018) The mediating role of Mediterranean diet on the association between Lp(a) levels and cardiovascular disease risk: a 10-year follow-up of the ATTICA study. Clin Biochem 60, 3337.



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