Researchers discover lipid signatures in familial hypercholesterolemia linked to cardiovascular risk

Specific lipid abnormalities in patients with familial hypercholesterolemia (FH) have been identified, which could serve as biomarkers for developing targeted therapies to prevent premature atherosclerotic cardiovascular disease, according to a study.

Researchers investigated lipid abnormalities in the metabolic networks of 36 patients—18 with homozygous FH (HoFH) and 18 with heterozygous FH (HeFH)—and compared them to 20 healthy controls.

The study found significant lipid variations between patients with FH and healthy individuals. Both patients with HoFH and HeFH exhibited lower levels of free fatty acids (FFAs) and higher levels of triacylglycerols (TAGs) compared to the control group. Patients with HoFH also had lower monoacylglycerols and higher free cholesterol levels compared to patients with HeFH and controls. Despite these differences, the total content of cholesterol oxidation products (COPs) did not significantly differ among the groups.

Reference
Ganjali S, Cardenia V, Bonciolini A, et al. Lipidomic profiling in patients with familial hypercholesterolemia: Abnormalities in glycerolipids and oxysterols. Clin Biochem. 2024;110812. doi: 10.1016/j.clinbiochem.2024.110812. Epub ahead of print. PMID: 39197573.