Cholesterol efflux capacity is increased in subjects with familial hypercholesterolemia in a retrospective case–control study

• Published in: Scientific reports Vol. 13; no. 1; pp. 8415 - 9
• Main Authors: Sanz, Juana Maria, D’Amuri, Andrea, Sergi, Domenico, Angelini, Sharon, Fortunato, Valeria, Favari, Elda, Vigna, Giovanni, Zuliani, Giovanni, Dalla Nora, Edoardo, Passaro, Angelina
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 24.05.2023; Nature Publishing Group; Nature Portfolio
• Subjects: 631/45; 692/699; 692/699/317; 692/699/75; ABCA1 protein; ATP-binding protein; Cardiovascular Diseases; Case studies; Case-Control Studies; Cholesterol; Cholesterol, LDL; High density lipoprotein; Humanities and Social Sciences; Humans; Hypercholesterolemia; Hyperlipoproteinemia Type II; Lipoproteins; Low density lipoprotein; multidisciplinary; Phenotypes; Retrospective Studies; Science; Science (multidisciplinary)
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-023-35357-4

Familial Hypercholesterolemia (FH) is characterized by an increase in Low-Density Lipoprotein Cholesterol (LDL-C) and by premature Cardiovascular Disease (CVD). However, it remains to be fully elucidated if FH impairs cholesterol efflux capacity (CEC), and whether CEC is related to lipoprotein subfraction distribution. This study aimed at comparing FH patients and age, sex and BMI matched controls in terms of LDL and HDL subfraction distribution as well as CEC. Forty FH patients and 80 controls, matched for age, sex and BMI, were enrolled in this case–control study. LDL and HDL subfractions were analyzed using the Quantimetrix Lipoprint System. CEC was evaluated as aq-CEC and ABCA1-CEC. FH subjects showed a significantly higher concentration of all LDL subfractions, and a shift from large to small HDL subfraction pattern relative to controls. FH subjects with previous CVD event had smaller LDL lipoproteins than controls and FH subjects without previous CVD event. Both aq-CEC and ABCA1-CEC were increased in FH patients with respect to controls. To conclude, FH subjects had a metabolic profile characterized not only by higher LDL-C but also by shift from large to small HDL subfraction phenotype. However, FH subjects showed an increase CEC than controls.