The Link Between Familial Hypercholesterolemia and Heart Disease
Medically Reviewed By Dr. Disha Arora, M.D. (Pathology), MPH (Family and Community Medicine), University of Toronto.
When you think about heart disease, you might imagine lifestyle factors like an unhealthy diet, lack of exercise, or smoking. While these are important contributors to heart health, some people face a different challenge: a genetic condition known as familial hypercholesterolemia (FH). If you or someone you love has been diagnosed with FH, you may already know that this inherited disorder leads to high levels of LDL cholesterol—often referred to as “bad” cholesterol—in the blood.
What you may not realize is just how closely FH is linked to an increased risk of heart disease. For people with FH, the risk of developing cardiovascular problems is significantly higher than for those without the condition, and it can strike much earlier in life. In fact, without proper treatment, FH can cause serious heart problems like heart attacks, even in young adults or children.
In this blog post, we’ll explore the strong connection between FH and heart disease, why early diagnosis is critical, and how you can manage this risk to protect your heart.
What Is Familial Hypercholesterolemia?
First, let’s briefly explain what FH is. Familial hypercholesterolemia is a genetic condition that causes the body to struggle with processing LDL cholesterol, leading to abnormally high levels of it in the bloodstream. LDL cholesterol is a type of fat that can accumulate in your arteries, causing them to narrow and harden over time—a condition known as atherosclerosis.
In people with FH, these high levels of LDL cholesterol are present from birth. Unlike lifestyle-related high cholesterol, which often develops later in life due to diet or lack of exercise, FH causes cholesterol to build up in the arteries much more rapidly and from a much younger age. As a result, people with FH are at a much higher risk of developing heart disease, including heart attacks and strokes, earlier than the general population.
Genetics and Prevalence of Familial Hypercholesterolemia
FH is caused by mutations in genes like LDLR, APOB, or PCSK9, which prevent the body from effectively removing LDL cholesterol. It is inherited in an autosomal dominant pattern, meaning it runs in families without skipping generations.
- Heterozygous FH (HeFH): Affects about 1 in 200–250 people globally.
- Homozygous FH (HoFH): A much rarer and more severe form, affecting 1 in 300,000–400,000 people.
Learn more about FH genetics, inheritance, and risks here.
Global Perspective: FH is underdiagnosed in many resource-limited settings due to a lack of awareness and access to lipid profiling and genetic testing. Global initiatives like the FH Foundation’s CASCADE Registry aim to improve diagnosis and care worldwide.
How Does FH Increase the Risk of Heart Disease?
The connection between familial hypercholesterolemia (FH) and heart disease is simple but profound: high levels of LDL cholesterol in the blood can lead to plaque buildup in the arteries. Over time, this plaque hardens and narrows the arteries, restricting blood flow to the heart and other vital organs. This process, known as atherosclerosis, is a major cause of heart disease, and for people with FH, it happens much faster and more aggressively than in those without the condition.
Here’s how it works:
- Excess LDL Cholesterol: People with FH can have LDL cholesterol levels that are two to four times higher than normal. The body’s inability to efficiently remove this excess cholesterol leads to its accumulation in the arteries.
- Plaque Formation: Over time, this buildup of LDL cholesterol forms fatty deposits (plaque) inside the arteries. As the plaque hardens, it causes the arteries to narrow, making it more difficult for blood to flow through.
- Reduced Blood Flow: When blood flow is restricted due to narrowed arteries, the heart doesn’t get the oxygen and nutrients it needs to function properly. This can lead to chest pain (angina) and, eventually, a heart attack if the blood supply to part of the heart is completely blocked.
Early Onset of Heart Disease:
Because people with FH are born with high cholesterol, this plaque buildup can begin in childhood or adolescence. While many individuals with untreated heterozygous FH (HeFH) develop cardiovascular disease in their 30s or 40s, this is not universal. Risk varies depending on lifestyle, additional health factors, and the type of FH. For example, individuals with homozygous FH (HoFH)—a rarer and more severe form of the condition—can experience cardiovascular events much earlier, often in childhood or adolescence.
Understanding this variability in risk highlights the importance of early diagnosis and tailored treatment. With regular monitoring and interventions like cholesterol-lowering medications, it is possible to significantly reduce or delay the onset of heart disease.
Early Diagnosis: Why It’s Critical
Given the accelerated risk of heart disease in people with FH, early diagnosis is absolutely critical. The sooner FH is detected, the sooner treatment can begin to lower LDL cholesterol levels and reduce the risk of heart disease. However, FH often goes undiagnosed for years because it doesn’t have obvious symptoms in the early stages. Many people don’t realize they have FH until they experience a serious cardiovascular event, like a heart attack.
Here’s why early diagnosis makes such a big difference:
1. Preventing Heart Disease Before It Starts
When FH is diagnosed early—ideally in childhood or young adulthood—doctors can prescribe treatments to lower LDL cholesterol levels before significant plaque buildup occurs in the arteries. This can prevent the onset of heart disease altogether or greatly delay its progression.
2. Customized Treatment Plans
Once FH is diagnosed, a healthcare provider can create a personalized treatment plan that goes beyond lifestyle changes. While diet and exercise are important, most people with FH will need cholesterol-lowering medications such as statins, PCSK9 inhibitors, or ezetimibe. These treatments are essential in managing cholesterol levels and reducing the risk of cardiovascular disease.
3. Protecting Future Generations
Since FH is an inherited condition, diagnosing one family member often leads to testing other relatives through what’s called cascade screening. This ensures that other at-risk family members can be diagnosed and treated early, preventing heart disease across generations.
Practical Guidelines for Managing FH
Managing familial hypercholesterolemia (FH) can feel overwhelming, but there are steps you can take to stay on top of your health and reduce your risk of heart disease. Here’s how to get started:
- Consider Genetic Testing
Genetic testing can confirm an FH diagnosis and help identify other at-risk family members. Talk to your doctor about testing options and how it might fit into your care plan. - Find the Right Specialist
Working with a specialist like a cardiologist who has experience managing FH is essential. These experts can guide you through the best treatment options, monitor your progress, and meet your specific needs. - Join an FH Registry
Enrolling in FH-specific registries, like the CASCADE FH Registry through the FH Foundation, connects you with valuable resources while contributing to research efforts that improve care for everyone with FH. - Lean on Support Networks
Living with a lifelong condition like FH can be challenging, but you’re not alone. Support groups and organizations, such as FamilyHeart.org, provide practical tools and a sense of community to help you manage FH for the long term.
Mental health resources and support networks are invaluable in managing the stress associated with this lifelong condition.Take these steps and stay proactive about your heart health.
Managing FH to Reduce Heart Disease Risk
While FH can significantly increase the risk of heart disease, the good news is that it’s a manageable condition. With the right combination of medications, lifestyle changes, and regular monitoring, people with FH can live long, healthy lives. Here’s how:
1. Medication to Lower Cholesterol
For most people with FH, medication is essential to keeping cholesterol levels in check. Statins are usually the first line of defense. They work by reducing the amount of cholesterol your liver produces. PCSK9 inhibitors are a newer class of medications that help your body remove LDL cholesterol from the blood. In more severe cases, LDL apheresis, a procedure that physically removes LDL cholesterol from the blood, may be necessary.
2. Heart-Healthy Lifestyle
While medications are crucial, adopting a heart-healthy lifestyle can also make a big difference in managing FH. This includes:
- Eating a balanced diet low in saturated fats and trans fats. Focus on fruits, vegetables, whole grains, lean proteins, and healthy fats like those found in olive oil and nuts.
- Exercising regularly to improve cardiovascular health and help lower cholesterol.
- Avoiding smoking, which significantly raises the risk of heart disease, especially in people with FH.
3. Regular Check-Ups
If you have FH, it’s important to work closely with your healthcare provider to monitor your cholesterol levels and heart health. Regular check-ups, including blood tests to measure LDL cholesterol, and heart tests like electrocardiograms (EKGs) or stress tests, can help ensure your treatment plan is working.
Taking Charge of Your Heart Health
Familial hypercholesterolemia is a serious condition that increases the risk of heart disease, but it doesn’t have to define your future. With early diagnosis, proper treatment, and a commitment to a heart-healthy lifestyle, people with FH can significantly lower their risk of cardiovascular problems and live full, active lives.
If you have a family history of high cholesterol or early heart disease, it’s worth discussing FH with your doctor. The earlier it’s diagnosed, the better your chances of managing your cholesterol and protecting your heart for years to come.
