Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2023 May 24;13(1):8415.
doi: 10.1038/s41598-023-35357-4.

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

Juana Maria Sanz #  1 , Andrea D'Amuri #  2 , Domenico Sergi  3 , Sharon Angelini  3 , Valeria Fortunato  3 , Elda Favari  4 , Giovanni Vigna  5 , Giovanni Zuliani  2   3 , Edoardo Dalla Nora  6 , Angelina Passaro  7   8
Affiliations

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

Juana Maria Sanz et al. Sci Rep. .

Abstract

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.

PubMed Disclaimer

Conflict of interest statement

The authors declare no competing interests.

Figures

Figure 1
Figure 1
Circulating lipid profile in controls and FH subjects. Data are reported as mean ± standard deviation. FH Familial Hypercholesterolemia, Total-C total cholesterol, LDL-C Low Density Lipoprotein Cholesterol, HDL-C High Density Lipoprotein Cholesterol, TG Triglycerides. Means were compared by Student's t-test, whereas the medians of not normally distributed variables (Total-C, LDL-C, TG), were compared using the nonparametric Mann Whitney test§. §§p < 0.01; §§§p < 0.001.
Figure 2
Figure 2
Lipid profile in FH subjects without or with a previous CVD event. Data are reported as mean ± standard deviation. FH Familial Hypercholesterolemia, Total-C total cholesterol, LDL-C Low Density Lipoprotein Cholesterol, HDL-C High Density Lipoprotein Cholesterol, TG Triglycerides, CVD CardioVascular Disease. The medians of not normally distributed variables (Total-C, LDL-C, HDL-C TG), were compared using the nonparametric Mann Whitney test§. FH-CVD−, N = 29; FH-CVD+, N = 11.
Figure 3
Figure 3
Cholesterol Efflux Capacity in controls and FH subjects. Data are reported as mean ± standard deviation. (A) % CEC, (B) LDL-normalized CEC. FH Familial Hypercholesterolemia, aq-CEC aqueous diffusion Cholesterol Efflux Capacity, ABCA1-CEC ATP Binding Cassette Cholesterol Efflux Capacity, LDL-C normalized aq-CEC Low Density Lipoprotein normalized aqueous diffusion Cholesterol Efflux Capacity, LDL-C normalized ABCA1-CEC Low Density Lipoprotein normalized ATP Binding Cassette Cholesterol Efflux Capacity. Means were compared by Student's t-test. **p < 0.01; ***p < 0.001.
Figure 4
Figure 4
Cholesterol Efflux Capacity in FH subjects without or with a previous CVD event. Data are reported as mean ± standard deviation FH Familial Hypercholesterolemia, aq-CEC Aqueous diffusion Cholesterol Efflux Capacity, ABCA1 ATP Binding Cassette A1, CEC Cholesterol Efflux Capacity, CVD CardioVascular Disease, SD Standard Deviation. Means compared by Student's t-test. FH-CVD−, N = 29; FH-CVD+, N = 11.
See this image and copyright information in PMC

References

    1. Marduel M, Carrie A, Sassolas A, Devillers M, Carreau V, Di Filippo M, Erlich D, Abifadel M, Marques-Pinheiro A, Munnich A, et al. Molecular spectrum of autosomal dominant hypercholesterolemia in France. Hum. Mutat. 2010;31:E1811–1824. doi: 10.1002/humu.21348. - DOI - PMC - PubMed
    1. Rubba P, Gentile M, Marotta G, Iannuzzi A, Sodano M, De Simone B, Jossa F, Iannuzzo G, Giacobbe C, Di Taranto MD, et al. Causative mutations and premature cardiovascular disease in patients with heterozygous familial hypercholesterolaemia. Eur. J. Prev. Cardiol. 2017;24:1051–1059. doi: 10.1177/2047487317702040. - DOI - PubMed
    1. Silverman MG, Ference BA, Im K, Wiviott SD, Giugliano RP, Grundy SM, Braunwald E, Sabatine MS. Association between lowering LDL-C and cardiovascular risk reduction among different therapeutic interventions: A systematic review and meta-analysis. JAMA. 2016;316:1289–1297. doi: 10.1001/jama.2016.13985. - DOI - PubMed
    1. Baldassarre S, Scruel O, Deckelbaum RJ, Dupont IE, Ducobu J, Carpentier YA. Beneficial effects of atorvastatin on sd LDL and LDL phenotype B in statin-naive patients and patients previously treated with simvastatin or pravastatin. Int J Cardiol. 2005;104:338–345. doi: 10.1016/j.ijcard.2005.01.006. - DOI - PubMed
    1. Ivanova EA, Myasoedova VA, Melnichenko AA, Grechko AV, Orekhov AN. Small dense low-density lipoprotein as biomarker for atherosclerotic diseases. Oxid. Med. Cell Longev. 2017;2017:1273042. doi: 10.1155/2017/1273042. - DOI - PMC - PubMed

Publication types

Substances