Familial hypercholesterolemia is a genetic condition that causes very high cholesterol levels from birth. People who have this disorder often do not know it, because it usually does not cause symptoms until later in life.
However, the condition can lead to early heart disease, heart attacks, and stroke. Even though effective treatments exist, many people remain undiagnosed and therefore face unnecessary risk.
Heart disease is still the leading cause of death in the United States. It affects millions of people each year and includes coronary artery disease, stroke, and heart failure.
High cholesterol is one of the biggest factors that contributes to these problems. For people with familial hypercholesterolemia, the danger is even greater because their cholesterol levels are extremely high throughout their lives.
A new study from the Mayo Clinic shows that current guidelines for genetic testing are not enough to find most people with this condition.
The study, published in Circulation: Genomic and Precision Medicine, suggests that many cases go completely unnoticed because the guidelines rely mainly on cholesterol levels and family history. These two factors alone often do not reveal who truly carries the genetic risk.
The Mayo Clinic researchers studied more than 84,000 volunteers in Arizona, Florida, and Minnesota. They used a type of DNA testing called exome sequencing, which looks at the parts of the genome most likely to contain disease‑causing mutations.
From this large group, they identified 419 people who had genetic variants known to cause familial hypercholesterolemia.
One of the most surprising findings was that nearly 90% of these people would never have been chosen for genetic testing under today’s standards. About one in five had already developed coronary artery disease by the time their genetic results were discovered. This means the opportunity to treat their condition earlier had already been missed.
Dr. Niloy Jewel Samadder, the study’s lead author, explained that this shows a major gap in current screening recommendations. He said that relying only on cholesterol numbers and family history leaves too many people undiagnosed.
Many families do not know their full medical history, and some people maintain normal cholesterol levels until later in adulthood, even if they carry the harmful mutation. By the time the disease shows up clearly, damage may already be happening.
Familial hypercholesterolemia is actually one of the most common inherited disorders, affecting around 1 in 200 to 250 people worldwide.
Because it begins at birth, early diagnosis is very important. If found early, treatment such as cholesterol‑lowering medications and lifestyle improvements can greatly reduce the risk of serious heart problems.
The researchers argue that making genetic screening a normal part of routine medical care could help catch these hidden cases. Mayo Clinic’s Precure program is working toward this goal by using genetics to predict and prevent disease before symptoms appear. The aim is to shift healthcare toward prevention instead of waiting until disease becomes severe.
Reviewing these findings shows how important early detection is. The study reveals that the majority of people with this dangerous condition are being missed under current guidelines. It also shows that genetic testing can uncover risk long before symptoms or abnormal cholesterol levels occur.
This means that more lives could be protected if screening becomes broader and more routine. The study strongly supports the idea that early genetic testing could become a powerful tool in preventive heart care.
If you care about heart disease, please read studies that herbal supplements could harm your heart rhythm, and how eating eggs can help reduce heart disease risk.
For more health information, please see recent studies that apple juice could benefit your heart health, and results showing yogurt may help lower the death risks in heart disease.
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