Evaluation of the effect of diet therapy on growth, biochemical markers of growth and cardiovascular health in patients with primary familial hypercholesterolemia

This study, which was planned and conducted to determine the effect of dietary treatment on growth, biochemical markers of growth and cardiovascular health in patients with primary familial hypercholesterolaemia (FH), was carried out between February 2022 and May 2023 with 30 children aged 5-10 years with FH who were followed up in the Paediatric Metabolism Department of Çukurova University Hospital. At the beginning of the study (month 0), sociodemographic characteristics, dietary habits, anthropometric measurements were taken and body mass index Z-scores and height Z-scores were calculated. At the beginning of the study, after the data collection process was completed, dietary treatments specific to the subjects were organised and detailed dietary education was given. At the beginning, 3rd month and at the end of the study (6th month), 24-hour food consumption records of all subjects were taken for 3 days and the frequency of consumption of foods containing cholesterol was questioned. The International Physical Activity Questionnaire-Short Form (IPAQ-Short Form) was used to evaluate the general physical activity levels of the subjects. Biochemical parameters, radiological and cardiological examinations evaluated in the follow-up of patients with familial hypercholesterolaemia were recorded by the investigator at the 0th and 6th months of the study. There was a moderate negative correlation between admission IGF-1 Z-score value and carbohydrate coverage percentage (p<0.05). There was a moderate negative correlation between total fat intake and six-month LDL-C levels and a moderate positive correlation between total fat intake and saturated fatty acids (p<0.05). Since diet therapy in children cannot be reduced to standard patterns, organising a diet therapy in which family members are also involved, taking into account the physical, social and cultural characteristics of the individual, and providing frequent follow-up of this therapy will increase the compliance of children with the diet. Keywords: Primary familial hypercholesterolemia, IGF-1, diet therapy, growth