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Monogenic Versus Polygenic Forms of Hypercholesterolemia and Cardiovascular Risk: Are There Any Differences?

Authors :
Jacob, Erin
Hegele, Robert A.
Source :
Current Atherosclerosis Reports; Jun2022, Vol. 24 Issue 6, p419-426, 8p
Publication Year :
2022

Abstract

Purpose of Review: Common DNA variants with small effects work together to create susceptibility to polygenic hypercholesterolemia. Some clinicians wonder whether patients with polygenic hypercholesterolemia have less severe clinical features compared to patients with monogenic familial hypercholesterolemia (FH) caused by rare deleterious variants. Recent Findings: Studies performed in cohorts of patients with both monogenic and polygenic hypercholesterolemia have assessed lipid levels, non-invasive markers of atherosclerosis, and clinical end points, including major adverse cardiovascular events. The totality of data suggests a gradient across genotypes. Specifically, individuals with polygenic hypercholesterolemia have deleterious phenotypes that are intermediate in severity between those in patients with monogenic hypercholesterolemia and in control subjects. Summary: Although clinical variables in patients with polygenic hypercholesterolemia are less severe than in those with monogenic hypercholesterolemia, cardiovascular risk is still very high in these patients compared to controls. Patients with polygenic hypercholesterolemia must be treated assertively. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
15233804
Volume :
24
Issue :
6
Database :
Complementary Index
Journal :
Current Atherosclerosis Reports
Publication Type :
Academic Journal
Accession number :
157279257
Full Text :
https://doi.org/10.1007/s11883-022-01018-6