Determination of selected oxysterol levels, oxidative stress, and macrophage activation indicators in children and adolescents with familial hypercholesterolemia

• Published in: Lipids in health and disease 2024-11, Vol.23 (1), p.374-16, Article 374
• Main Authors: Canbay, Erhan, Canda, Ebru, Yazıcı, Havva, Kasıkcı, Gulcin Kayan, Durmaz, Burak, Copur, Oznur, Tahhan, Begüm, Düzgün, Dilek, Koru, Zeynep Elçim, Sezer, Ebru, Aydın, Derya, Levent, Resit Erturk, Ucar, Sema Kalkan, Coker, Mahmut, Sozmen, Eser Yıldırım
• Format: Article
• Language: English
• Subjects: Adolescent; Aryldialkylphosphatase - blood; Aryldialkylphosphatase - genetics; Atherosclerosis; Atherosclerosis - blood; Atorvastatin - therapeutic use; Carotid Intima-Media Thickness; Case-Control Studies; Catalase - blood; Child; Cholestanols; Cholesterol metabolism; Cholesterol, LDL - blood; CIMT; Complications and side effects; Development and progression; Female; Health aspects; Hexosaminidases; Humans; Hydroxycholesterols - blood; Hypercholesterolemia; Hyperlipoproteinemia Type II - blood; Hyperlipoproteinemia Type II - drug therapy; Hyperlipoproteinemia Type II - genetics; Ketocholesterols - blood; Macrophage activation indicators; Macrophages; Male; Malondialdehyde - blood; Oxidative Stress; Oxysterol; Oxysterols - blood; Pediatric research; Physiological aspects; Receptors, LDL - genetics; Risk factors
• ISSN: 1476-511X; 1476-511X
• DOI: 10.1186/s12944-024-02371-y

Elevated levels of cholesterol in the bloodstream, also referred to as hypercholesterolemia, pose a significant risk for the onset of cardiovascular and cerebrovascular diseases. Oxysterols, cholesterol-derived oxidized compounds that form enzymatically or non-enzymatically, contribute to the development of atherosclerosis and coronary artery disease. This study aimed to examine the critical oxysterol levels in children and adolescents with hypercholesterolemia and explore the correlation between these levels, oxidative stress, and atherosclerosis progression. The study included 20 patients with familial hypercholesterolemia (FH) and 20 healthy individuals aged between 6 and 18 years. Participants were categorized into children (6-9 years) and adolescents (10-18 years). Pediatric and adolescent patients were selected from among subjects with LDL-C ≥ 130 mg/dL and diagnosed with heterozygous familial hypercholesterolemia (HeFH) based on the presence of mutations in the LDL receptor (LDL-R) gene. Patients with HeFH who were receiving regular atorvastatin therapy were included in the study. There were no notable differences in catalase and paraoxonase (PON1) activities among the groups. However, the patient group displayed substantially higher levels of malondialdehyde (MDA) (P = 0.0108) and superoxide dismutase (SOD) activity (P = 0.0103). Compared to the healthy control group, serum chitotriosidase (CHITO) activity (P = 0.037) and chitinase 3-like protein 1 (YKL-40) levels (P = 0.0027) were significantly elevated in the patient group. Furthermore, the carotid intima-media thickness (CIMT) measurements of the patient group were significantly greater than those of the healthy group (**P