Evaluations of metabolic and innate immunity profiles in subjects with familial hypercholesterolemia with or without subclinical atherosclerosis

• Published in: European journal of internal medicine Vol. 132; pp. 118 - 126
• Main Authors: Bosco, Giosiana, Di Giacomo Barbagallo, Francesco, Di Marco, Maurizio, Scilletta, Sabrina, Miano, Nicoletta, Capuccio, Stefania, Musmeci, Marco, Di Mauro, Stefania, Filippello, Agnese, Scamporrino, Alessandra, Di Pino, Antonino, Masana, Luis, Purrello, Francesco, Piro, Salvatore, Scicali, Roberto
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.02.2025
• Subjects: Adult; Atherosclerosis - blood; Atherosclerosis - complications; Atherosclerosis - immunology; Cardiovascular Risk; Cholesterol, LDL - blood; Cross-Sectional Studies; Familial hypercholesterolemia; Female; Humans; Hyperlipoproteinemia Type II - blood; Hyperlipoproteinemia Type II - complications; Hyperlipoproteinemia Type II - immunology; Hyperlipoproteinemia Type II - metabolism; Immunity, Innate; Inflammation; Innate Immunity; Leukocyte Count; Linear Models; Logistic Models; Male; Middle Aged; Multivariate Analysis; Subclinical atherosclerosis; Inflammation; Subclinical atherosclerosis; Familial hypercholesterolemia; Cardiovascular Risk; Innate Immunity
• ISSN: 0953-6205; 1879-0828; 1879-0828
• DOI: 10.1016/j.ejim.2024.12.002

•The SA group had higher LDL-C at diagnosis and LCB than the NSA group.•The SA group had higher WBCC, NC and MC than the NSA group.•LCB, WBCC, NC and MC were associated with subclinical atherosclerosis.•LCB was associated with WBCC, NC and MC.•LCB could modulate the innate immunity profile. Familial hypercholesterolemia (FH) is a genetic condition characterized by high low-density lipoprotein cholesterol (LDL-C). The presence of risk modifiers could promote the atherosclerotic injury beyond LDL-C. Our aim was to evaluate metabolic and innate immunity profiles in FH subjects with or without subclinical atherosclerosis. In this cross-sectional observational study, we evaluated 211 genetically confirmed FH subjects on LDL-C target and without cardiovascular diseases. Biochemical analyses, LDL-C burden (LCB) calculation and vascular profile evaluation were obtained from all subjects. Study population was divided into two groups according to subclinical atherosclerosis: the subclinical atherosclerosis (SA) group and non-subclinical atherosclerosis (NSA) group. SA group had higher LDL-C at diagnosis (288.35 ± 24.52 vs 267.92 ± 23.86, p < 0.05) and LCB (13,465.84 ± 3617.46 vs 10,872.63 ± 3594.7, p < 0.001) than NSA group. SA group had higher white blood cell count (WBCC, 6.9 ± 1.66 vs 6.1 ± 1.16), neutrophil count (NC, 4.2 ± 1.3 vs 3.6 ± 1.11), monocyte count (MC, 0.8 ± 0.2 vs 0.4 ± 0.1), triglyceride to high-density lipoprotein ratio (TG/HDL, 1.73 ± 0.72 vs 1.45 ± 0.69), triglyceride-glucose index (TyG, 8.29 ± 0.35 vs 8.01 ± 0.33) than NSA group (p value for all < 0.01). Multivariate logistic regression analysis showed that LCB (p < 0.01), WBCC (p < 0.01), NC (p < 0.05), MC (p < 0.05) were associated with subclinical atherosclerosis. Simple linear regression analyses showed that LCB was associated with WBCC, NC, MC (p value for all < 0.01). An increased LCB and an impaired innate immunity profile were found in FH subjects with subclinical atherosclerosis and they were independently associated with atherosclerotic injury. LCB could modulate the innate immunity profile.