A new study from the Mayo Clinic has revealed that a large number of Americans who carry a genetic condition responsible for dangerously high cholesterol levels are unaware of their status and remain untreated—an alarming gap in preventive cardiovascular care with nationwide implications. The findings spotlight a persistent blind spot in the healthcare system’s ability to detect familial hypercholesterolemia (FH), a hereditary disorder that drastically increases the risk of early heart disease if left unmanaged.
Familial hypercholesterolemia is a genetic condition characterized by extremely high levels of low-density lipoprotein (LDL) cholesterol, often beginning at birth. This “bad” cholesterol, when elevated over decades, contributes to the early development of atherosclerosis, a narrowing of the arteries that can lead to heart attacks, strokes, and other cardiovascular complications. Despite being one of the most common inherited metabolic disorders—affecting an estimated one in every 300 adults in the United States—it often goes undiagnosed until a serious health event prompts closer evaluation.
In the Mayo Clinic study, researchers analyzed data from over 84,000 participants enrolled in the multi-site Tapestry DNA research project across Mayo Clinic campuses in Arizona, Florida, and Minnesota. Within this population, they identified 419 individuals carrying one or more of the gene variants known to cause FH. Surprisingly, nearly 90 percent of those individuals would not have qualified for genetic testing under current clinical guidelines, which rely heavily on high cholesterol levels or a clear family history of heart disease to trigger screening.
Even more concerning, about 20 percent of the individuals with these genetic variants had already experienced signs of coronary artery disease by the time their genetic status was discovered. This suggests that without broader genetic screening or more comprehensive risk assessments, many people with FH are falling through the cracks—remaining untreated until they suffer potentially preventable cardiovascular events.
The study’s authors argue that current approaches to screening for cholesterol disorders may be too narrow, missing many individuals who do not display the most obvious signs. Many people with FH may have cholesterol levels that do not cross the traditional threshold of concern or may not know enough about their family’s medical history to report relevant details. Because FH can be treated effectively with medications such as statins, PCSK9 inhibitors, and other lipid-lowering therapies, early identification is critical for reducing lifelong risk and preventing premature death.
For clinicians, especially those practicing in primary care and cardiology, the findings offer a clear call to action. The researchers recommend a reevaluation of existing guidelines for genetic testing and greater use of comprehensive cardiovascular risk assessments that include genetic components. This includes not only looking at cholesterol levels but also incorporating factors such as persistent LDL elevation despite treatment, early-onset heart disease in close relatives, and unexplained cardiovascular events in otherwise healthy individuals. Providers in states like Texas, where heart disease remains a leading cause of death, are particularly urged to expand screening practices and integrate genetic testing into routine care where possible.
The implications for patients are equally significant. Many Americans might not be aware that their cholesterol problem could have a genetic basis. The study underscores the importance of regular cholesterol screening, especially for individuals with a family history of cardiovascular disease. It also highlights the value of proactive communication with healthcare providers about any history of early heart attacks, strokes, or high cholesterol in the family. Genetic counseling and testing, once considered niche or cost-prohibitive, are now more accessible and increasingly covered by insurance, making it feasible for more people to understand their inherited health risks.
The Mayo Clinic’s work is part of a broader shift toward the integration of genomics into everyday clinical care. The clinic’s ongoing “Precure” initiative aims to make genetic risk profiling a routine part of preventive medicine. Similar programs are emerging in health systems across the country, spurred by growing recognition that personalized approaches to care—grounded in genetics and family history—can yield better outcomes than one-size-fits-all models.
Nevertheless, challenges remain in implementing these strategies at scale. Many healthcare providers lack training in genetic medicine, and disparities in access to testing persist, particularly in rural and underserved communities. The healthcare infrastructure required to follow up on genetic findings—through specialist referrals, patient education, and long-term monitoring—is still being built. Moreover, there is a need for greater public awareness about conditions like FH, which, while relatively common, are not well understood outside of specialist circles.
One of the most promising aspects of identifying FH is the opportunity it creates for cascade screening—testing close relatives of individuals found to carry the condition. Since FH is inherited in an autosomal dominant pattern, each first-degree relative has a 50 percent chance of also having the condition. This means that a single diagnosis can open the door to preventive care for entire families, potentially preventing serious disease across generations.
As the study authors emphasize, detecting familial hypercholesterolemia early can save lives. With effective treatment available and increasing capabilities for genetic screening, the tools now exist to dramatically reduce the burden of this silent but dangerous condition. However, realizing this potential will require a coordinated effort among clinicians, health systems, policymakers, and the public to ensure that individuals at risk are identified before it’s too late.
In conclusion, the Mayo Clinic’s new findings reveal a critical gap in the early detection of a common and treatable genetic disorder. The study calls for more inclusive screening strategies, broader awareness campaigns, and greater integration of genomics into preventive care. As cardiovascular disease continues to be a leading cause of death in the U.S., leveraging genetic insights to target high-risk individuals could mark a major step forward in public health and clinical practice.
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