Abstract

Abstract Familial hypercholesterolemia is one of the most common genetic diseases that leads to premature atherosclerosis. We investigated endothelial function in children with heterozygous familial hypercholesterolemia in order to detect the first signs of endothelial inflammation in non-invasive ways. In 57 children with heterozygous familial hypercholesterolemia (Group 1), endothelial function was studied by measuring levels of nitric oxide (NO), endothelin and hypersensitive C-reactive protein (hsCRP). All secondary causes that could lead to a change in these indicators were excluded. Children from Group 1 had no Clinical or ultrasound signs of atherosclerosis. No children from Group 1 were ever treated by statins or other lipid-lowering therapy. Results were compared with a group of children comparable in age and sex (Group 2). Average age of Group 1 was 9 years old ±2 months, Group 2 is 9 years old ±3 months. Average lipid values in Group 1: total cholesterol (TH) – 7.2±0.9 mmol/L, low density lipoproteins (LDL) – 4.7±0.7 mmol/L, triglycerides and high density lipoproteins (HDL) corresponded to normal. Group 2 average lipids: TH – 4.2±0.7 mmol/L, LDL – 2.3±0.4 mmol/L, the level of triglycerides and (HDL) corresponded to normal. Results The results in Group 1 were: NO 66.15±1.19 μmol/L, endothelin 0.418±0.121 pmol/L, hsCRP 0.25±0.1 mg/dl. They showed in Group 2: NO 39.15±0.15 μmol/L, endothelin 0.231±0.05 pmol/L, hsCRP 0.11±0.2 mg/dl. The results in group 1 were significantly higher (endothelin and hypersensitive reactive protein) and lower (NO) in terms of indicators. Conclusions There is significant difference in the levels of vasodilators, vasoconstrictors and hsCRP between Group 1 and Group 2, that means there are the signs of inflammation in the Children with no clinics of peripheral or coronary atherosclerosis. It can be used as biomarkers of premature atherosclerosis and can help to avoid it. Funding Acknowledgement Type of funding source: None

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