• Posted November 21, 2025

Most People Aren't Aware Of Genetic Risk For Dangerously High Cholesterol

Most folks with genetics that put them at risk for high cholesterol and early heart disease aren’t aware of their danger, a new study says.

Nearly 90% of people carrying genetics that cause dangerously high cholesterol — an inherited condition called familial hypercholesterolemia — were not aware of their risk, researchers recently reported in journal Circulation: Genomic and Precision Medicine.

These folks learned of their condition thanks to DNA testing conducted as part of a Mayo Clinic research study, results show.

Unfortunately, about 1 in 5 people already had developed heart disease related to clogged and hardened arteries, researchers said.

“Our findings expose a blind spot in current national guidelines, which rely on cholesterol levels and family history to determine who should receive genetic testing," lead researcher Dr. Niloy Jewel Samadder, a cancer geneticist at the Mayo Clinic Comprehensive Cancer Center in Phoenix, said in a news release.

"If we can find those at risk of cardiovascular disease early, we can treat it early and change its course and likely save lives,” Samadder said.

Familial hypercholesterolemia is one of the most common genetic conditions, affecting about 1 in every 200 to 250 people worldwide, researchers said in background notes. It causes a person to have very high levels of “bad” LDL cholesterol from birth.

For the new study, researchers analyzed the genetics of more than 84,000 Mayo Clinic patients in Arizona, Florida and Minnesota.

The team identified 419 people with genetic variants known to cause familial hypercholesterolemia. Nine out of 10 didn’t know they had this genetic risk.

Further, nearly 75% of those folks would not have met current clinical criteria for genetic testing, based on their cholesterol levels or their family history, researchers said.

The results indicate that screening guidelines should be updated to make sure more people are tested for genetic risk of high cholesterol, researchers said.

People who test positive can be put on cholesterol-lowering drugs like statins before their high cholesterol can lead to heart disease, heart attacks or strokes.

However, more research is needed to determine the most appropriate people to screen, the team noted.

More information

The American Heart Association has more on familial hypercholesterolemia.

SOURCE: Mayo Clinic, news release, Nov. 19, 2025