Comprehensive metabolic analysis reveals novel risk factors for homozygous familial hypercholesterolemia
A comprehensive metabolic analysis of individuals with Homozygous Familial Hypercholesterolemia (HoFH) has revealed a more intricate and multifaceted picture of the disease than previously understood. Beyond the well-known elevated low-density lipoprotein cholesterol (LDL-C) levels associated with HoFH, the study identified various bioactive metabolites in different pathways, particularly those related to inflammation and oxidative stress.
The research not only confirmed the presence of these metabolites in patients with HoFH but also demonstrated their independent association with specific clinical manifestations, such as corneal arcus, xanthomas, and aortic stenosis. Importantly, a panel of metabolites, including high-density lipoprotein cholesterol, lipoprotein(a), apolipoprotein A1, and several proinflammatory and proatherogenic metabolites, showed significant predictive power for the occurrence of first atherosclerotic cardiovascular disease events in patients with HoFH.
The identification of these specific metabolites opens new avenues for understanding and potentially managing the cardiovascular risks in individuals with HoFH, paving the way for more targeted and personalized treatments in the future.
Reference
Du Z, Li F, Jiang L, et al. Metabolic systems approaches update molecular insights of clinical phenotypes and cardiovascular risk in patients with homozygous familial hypercholesterolemia. BMC Med. 2023;21(1):275. doi: 10.1186/s12916-023-02967-8. PMID: 37501168; PMCID: PMC10375787.
