RESUMO
Familial hypercholesterolemia (FH) is a highly atherogenic, genetically based lipid disorder. For patients with FH, dietary modification is the cornerstone of complex lipidlowering therapy. The aim of the research was to assess the actual nutrition in adults with familial hypercholesterolemia. Material and methods. The study included 100 patients over 18 years old (including 46% men) with "probable" or "definite" FH according to the Dutch Lipid Clinic Network or Simon Broome criteria from the GENMOTIV-FH study (ClinicalTrials: NCT04656028) in 2019-2021. Actual nutrition was assessed using the 24-hour dietary recall method. The frequency of the main meal groups' consumption and food-related behavior were assessed using a questionnaire method. The data are presented as the median [Q25; Q75]. Results. The study showed the excess consumption of protein (19.3 [16.7; 24.0] in men and 18.6% [13.6; 24.3] in women, p=0.592), total fat (35.1 [29.4; 41.0] in men vs 39.2% [33.2; 47.5] in women, p=0.018), including saturated fatty acids (9.6 [4.7; 13.0] vs 10.4% [7.5; 14.2], respectively, p=0.151), and cholesterol (265.8 [188.8; 521.9] mg/day in men vs 282.1 [147.2; 542.8] mg/day in women, p=0.936). Consumption of total carbohydrates (44.3 [37.2; 50.0] vs 39.6% [30.1; 48.8], respectively, p=0.100) and fiber (10.7 [7.3; 13.3] g/day in men vs 11.5 [7.9; 13.9] g/day in women, p=0.372) was insufficient. Only 47.9% of patients consumed vegetables daily, 39.1% - fruits and berries. The majority (64.5%) of patients with FH preferred high-fat cheese (>=25%). Cottage cheese of >=5% fat content preferred 52.7% of patients. The daily poultry consumption was more than red meat (19.3 vs 4.3% respectively, p=0.003). Regularly included fish in their meal 53.8% of patients. Conclusion. The actual nutrition in adults with FH does not match international guidelines. The results highlight the importance of dietary interventions for patients with FH.