Introduction. Familial hypercholesterolemia (FH) is a genetically determined disease characterized by elevated low-density lipoprotein levels since birth and predisposes a person to develop atherosclerosis-induced cardiovascular disease. Healthcare providers should monitor the health status and physical activity level in pediatric patients with FH, as a high-risk group for cardiovascular disease. Purpose - to investigate the self-reported health-related quality of life (HRQoL) and physical activity energy expenditure based on the questionnaire data (PAEEq) in children with heterozygous FH compared with healthy peers to assess the health status. Materials and methods. The HRQoL scores were assessed using the KINDLR questionnaire in 15 patients with FH and 21 healthy peers. The physical activity level was evaluated using the C(Y)PAQ questionnaire. The KINDLR data together with other variables such as age, weight, height, sex, BMI and the PAEEq scores were analyzed in SAS® OnDemand for Academics. Results. HRQoL scores in FH children were similar to those of the control group (p>0.05). There was no association between PAEEq and the HRQoL scores in the FH (r=0.37, p=0.29) and the control group (r=0.43, p=0.20). The KINDLR Physical well-being score in the 5-9 years age group was significantly higher for FH children than for controls (p<0.01), while the total HRQoL score was not significantly different between FH children and controls. The group of FH children aged 5-9 with an intermediate level of PAEEq was the most physically active among the surveyed children. The controls aged 15-18 with low levels of PAEEq was the least active. All other age groups were characterized by a low intermediate level of PAEEq. Conclusions. Children with FH have HRQoL scores that are comparable to those of healthy peers. The FH and control groups were relatively satisfied with their quality of life. Thus, FH children consider themselves to be healthy, and from this underestimation of their cardiovascular risk they may have low adherence. Most FH children were found to have the low intermediate levels of PAEEq, which may indicate a lack of exercise and poor quality of life later on. Children with FH may have significant health problems in adulthood if they are not treated early and appropriately. In a similar manner, low PAEEq levels were demonstrated by the controls, so they should be also informed about the significance of regular physical activity and properly motivated. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of the participating institution. The informed consent of the patients was obtained for conducting the studies. No conflict of interests was declared by the authors.
Background. Hypercholesterolemia is a risk factor for atherosclerosis and cardiovascular disease; it is also a significant contributor to mortality from major adverse cardiovascular events. Medical nutrition therapy and proper physical activity level are all important parts of prevention strategy for patients with familial hypercholesterolemia (FH). The aim of our study was to determine the impact of the Cardiovascular Health Integrated Lifestyle Diet (CHILD-1) on the nutritional profile of patients with FH compared to the healthy peers and to identify possible deviations from the required daily nutrient intake. Materials and methods. Fifteen patients with FH included in the study were interviewed using an adapted Food Frequency Questionnaire. Their nutritional status was assessed with Anthro+ WHO software. The average daily intake of FETA nutrients and its possible correlation with other parameters were analyzed using SAS OnDemand for Academics software. Results. The results suggest a lack of complete dietary compliance in all age groups of patients. Patients with FH aged 5–9 years consumed more fat than recommended daily intake level. There was a significant deficit in vitamin D. Children with FH aged 10–14 years consumed less carbohydrates and fats per day, showed the deficiencies in protein, calcium, iron, iodine, zinc, vitamin D. Patients with FH aged 15–18 years had a slightly increased daily intake of cholesterol and vitamin D deficiency. This age group was the only to exceed the recommended daily cholesterol intake level. Age and gender had no effect on nutrient intake (p > 0.05). A statistically significant gender difference in intake of certain nutrients was recorded at ages 5–9 and 10–14 years only in the group of patients with FH, with higher levels in male patients. Conclusions. The diets of patients with FH and healthy children in all age groups were unbalanced, containing little protein and many non-recommended ingredients. Non-adherence to dietary treatment in patients with FH is associated with a lack of motivation, inadequate education of children and parents and a general lack of medical attention. Treatment of these patients requires a multidisciplinary team with a family-oriented approach that is focused on self-management skills development in a child. The FH management guidelines should include provision of medical nutrition therapy and step-by-step monitoring of growth and development.
Atherosclerotic changes in the vascular walls begin early in childhood, especially in association with familial hypercholesterolemia (FH). The process may be subclinical, which nevertheless requires therapeutic and preventive measures. Purpose - to evaluate baseline lipid profiles, the thickness of carotid intima-media complexes, blood pressure indices and the association with concentration changes of dephosphorylated-uncarboxylated matrix Gla protein (dp-uc MGP) as a marker of subclinical arterial lesions in different age groups of pediatric patients with FH. Materials and methods. Children with heterozygous FH (n=15), stratified by age and sex, were included in the study. The control group consisted of healthy peers (n=21). Blood samples were analyzed to determine levels of total (TC), low-density (LDL-C), very-low-density (VLDL-C), high-density (HDL-C), remnant (rC) and non-high-density (non-HDL-C) cholesterol, triglycerides (TG), apolipoproteins A1 (apoA1) and B (apoB), lipoprotein (a), and dp-uc MGP. The intima-media complex thickness of the common carotid artery and blood pressure were measured in all study subjects. The obtained data were processed using the accepted methods of medical statistics and SAS® OnDemand for Academics. Results. Lipid profile changes in pediatric patients with FH were characterized by high levels of LDL-C, non-HDL-C and lipoprotein (a) in the 5-9 years age group; in the 10-14 years age group - high levels of LDL-C, TG, rC, non-HDL-C and lipoprotein (a); in the 15-18 years age group - high levels of LDL-C, TG, non-HDL-C and lipoprotein (a). At the same time, the most marked dyslipidemia changes were evident in children aged 10-14 years in the FH group. apoA1 levels were significantly decreased in all FH children. Elevated levels of lipoprotein (a) (>30 mg/dL) in FH children were found in all age groups, suggesting that elevated lipoprotein (a) levels can be used as a factor for cardiovascular risk stratification. Dp-uc MGP levels were significantly elevated in all age groups of FH children compared to healthy peers. Conclusions. A lipid profile examination is necessary to diagnose FH in children, along with family health history and cascade screening. As atherosclerotic changes at 5-18 years of age remain subclinical, and the instrumental tests available in routine medical practice are not sensitive enough to detect them, therefore, preventive or therapeutic measures cannot be initiated promptly. The evaluation of circulating matrix Gla protein in pediatric patients with FH can be used as a marker of vascular wall calcification, which may allow early preventive measures against microcalcification to be developed. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of the participating institution. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.
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