Imagine doing everything “right.” You eat reasonably well, you stay active, you don’t smoke. And yet, your cholesterol stays stubbornly high—sometimes very high. For many people, this isn’t about willpower or lifestyle. It’s about genetics.
One of the most common inherited conditions affecting cholesterol is familial hypercholesterolemia (FH). It causes high LDL (“bad”) cholesterol from birth, increasing the risk of early heart disease. The important thing is this: FH is treatable, and when it’s found early, treatment can be life-changing.
A common condition hiding in plain sight
FH is far more common than most people realize. It affects roughly 1 in 250 people, meaning many communities have thousands of individuals living with it. Yet, only a small number are ever diagnosed.
That gap matters. Without diagnosis and treatment, people with FH may develop heart disease decades earlier than expected. Some experience heart attacks in their 30s or 40s—sometimes before anyone has even mentioned FH as a possibility.
And because FH runs in families, one missed diagnosis can mean multiple missed opportunities. A parent may not know they have FH, their children may inherit it, and the cycle continues silently.
Why genetic testing can change the story
Traditional cholesterol testing can identify high LDL levels, but it doesn’t always explain why cholesterol is high. That’s where genetic testing comes in.
Genetic testing for FH looks for changes (variants) in key genes involved in clearing LDL cholesterol from the bloodstream—most commonly LDLR, APOB, and PCSK9. If a disease-causing variant is found, it can:
- Confirm the diagnosis of FH
- Strengthen the urgency for treatment
- Help doctors tailor monitoring and care
- Enable family cascade testing (testing close relatives who may also have FH)
This family-based approach is powerful. When one person is diagnosed, it can lead to early detection for siblings, children, and even cousins—people who might otherwise go years without knowing they’re at risk.
The human side of FH: “It’s not your fault”
One of the most overlooked benefits of genetic diagnosis is emotional. Many people with FH carry guilt or frustration—wondering if they “failed” at diet or exercise. A genetic diagnosis can reframe the conversation:
You didn’t cause this. You inherited it.
And once you know, you can act. That’s the hopeful part. FH is serious, but it’s also one of the most preventable causes of early heart disease when treated properly.
Whole genome sequencing: going beyond a single answer
Most FH genetic tests focus on a small set of genes. But whole genome sequencing (WGS) reads nearly all of a person’s DNA, which can provide broader insights—sometimes uncovering additional genetic factors influencing cholesterol, heart risk, or related conditions.
Even more exciting, WGS can also support pharmacogenomics—the science of how your genes affect your response to medications.
Statins, side effects, and why one size doesn’t fit all
Statins are a cornerstone of FH treatment. They lower LDL cholesterol effectively and reduce the risk of heart attacks and strokes. But anyone who has taken—or considered taking—a statin knows the experience isn’t identical for everyone.
Some people do very well. Others struggle with side effects such as muscle aches or fatigue, and some may need a different dose or an alternative medication plan.
Pharmacogenomics can offer extra clues. With WGS, clinicians may identify genetic variants that influence:
- How the body processes statins
- Risk of certain side effects
- Which statin may be better tolerated
- Whether additional therapies might be needed earlier
This doesn’t replace medical judgment, and it doesn’t mean genetics can predict everything perfectly. But it can add another layer of personalization—especially important for lifelong conditions like FH.
The takeaway: finding FH can protect entire families
Familial hypercholesterolemia is common, underdiagnosed, and highly treatable. Genetic testing can confirm FH, guide family screening, and help people move from uncertainty to action. Whole genome sequencing may go even further—providing insight not only into cholesterol risk, but into how someone may respond to key medications like statins.
If high cholesterol runs in your family, or if your LDL has always been high despite your best efforts, it may be worth asking a simple question:
Could this be FH?
Because for many families, that question is the beginning of a safer, healthier future—one diagnosis at a time.
References: StatPearls https://www.ncbi.nlm.nih.gov/books/NBK556009/
