A new study revealed that most people with genes that cause very high cholesterol and early heart disease are unaware of their risks.
According to research published in Circulation: Genomic and Precision Medicine, nearly 90% of people with familial hypercholesterolemia, a hereditary condition that causes dangerously high LDL (bad) cholesterol, were unaware they carried the gene.
Vulnerable populations learned about their risk only because they underwent DNA testing as part of a Mayo Clinic research project.
Nearly 1 in 5 had already developed cardiac disease associated with hardened arteries, atherosclerosis.
Lead researcher Dr. Niloy Jewel Samadder stated current national guidelines miss many vulnerable populations because they entirely depend on cholesterol levels and family history to determine who got gene testing.
He underscored that detecting vulnerable people early could allow for timely treatment and potentially save lives.
Familial hypercholesterolemia affects 1 in 200–250 individuals all across the globe and causes elevated “bad” LDL cholesterol from birth.
In the study, researchers assessed the genomes of over 84,000 Mayo Clinic patients across different states, including Arizona, Florida, and Minnesota.
Researchers discovered 419 people with genetic variants known to cause the condition — and 90% were unaware of their risk.
Nearly three-quarters wouldn’t have qualified for genetic testing under current criteria.
The findings revealed screening guidelines need updating so more people can get themselves tested and receive treatment early with cholesterol-reducing drugs like statins.
