What is Familial Hypercholesterolemia? Symptoms, Causes, & Treatment

Familial hypercholesterolemia is a genetic condition that causes your body to have very high cholesterol levels from birth. Unlike cholesterol problems that develop from diet or lifestyle, this condition runs in families and affects how your liver processes cholesterol.

About 1 in 250 people have this condition, though many don't know it. Your cholesterol levels can be 2 to 4 times higher than normal, which puts you at risk for heart disease at a younger age than most people.

What is Familial Hypercholesterolemia?

Familial hypercholesterolemia happens when you inherit faulty genes that control cholesterol metabolism. Your liver can't remove LDL cholesterol (the "bad" cholesterol) from your blood effectively.

Think of it like a traffic jam in your bloodstream. Normal livers have enough "exits" to clear cholesterol, but with this condition, many of those exits are blocked. This causes cholesterol to build up in your blood and eventually in your arteries.

There are two main types. Heterozygous familial hypercholesterolemia means you inherited one faulty gene from one parent. Homozygous familial hypercholesterolemia means you inherited faulty genes from both parents, making it much more severe but also much rarer.

What are the Symptoms of Familial Hypercholesterolemia?

Most people with familial hypercholesterolemia don't feel sick or notice obvious symptoms. The high cholesterol works silently in the background, which is why it's often called a "silent" condition.

However, some physical signs can appear that might give you clues:

• Yellowish bumps or patches around your eyes (called xanthelasma)
• Yellowish bumps on your knuckles, elbows, or knees (tendon xanthomas)
• A grayish-white ring around the colored part of your eye (corneal arcus)
• Chest pain or shortness of breath during physical activity
• Early heart attack or stroke symptoms in family members

These visible signs are more common in people with severe forms of the condition. Many people only discover they have familial hypercholesterolemia during routine blood tests or after a family member is diagnosed.

What are the Types of Familial Hypercholesterolemia?

There are two main types based on how many faulty genes you inherit. The type you have affects how severe your cholesterol levels will be and when problems might start.

Heterozygous familial hypercholesterolemia is the more common form. You inherit one normal gene and one faulty gene, so your liver still works partially. Your total cholesterol is usually between 300-500 mg/dL, and heart problems typically develop in your 40s or 50s.

Homozygous familial hypercholesterolemia is much rarer but more serious. You inherit faulty genes from both parents, so your liver struggles greatly with cholesterol removal. Your cholesterol can reach 600-1000 mg/dL or higher, and heart problems can start in childhood or teenage years.

What Causes Familial Hypercholesterolemia?

Familial hypercholesterolemia is caused by mutations in genes that help your liver remove cholesterol from your blood. The most common gene involved is called LDLR, which makes receptors that grab cholesterol from your bloodstream.

When these genes don't work properly, your liver can't clear cholesterol efficiently. It's like having fewer doorways for cholesterol to exit your bloodstream, so it builds up over time.

This is purely genetic and has nothing to do with your diet, exercise habits, or lifestyle choices. You're born with this condition because you inherited it from one or both parents. If one parent has it, each child has a 50% chance of inheriting it too.

When to See a Doctor for Familial Hypercholesterolemia?

You should see a doctor if you have a family history of high cholesterol, early heart attacks, or strokes. Getting tested is especially important if a parent, sibling, or child has been diagnosed with familial hypercholesterolemia.

Schedule an appointment if you notice yellowish bumps around your eyes or on your joints. These physical signs often indicate very high cholesterol levels that need medical attention.

Don't wait if you experience chest pain, shortness of breath, or other heart-related symptoms. Even if you feel fine, routine cholesterol screening starting in your 20s can catch this condition early when treatment is most effective.

What are the Risk Factors for Familial Hypercholesterolemia?

The main risk factor is having a parent with familial hypercholesterolemia. Since it's genetic, you can't develop this condition without inheriting the faulty genes from your family.

Your risk depends on your family pattern:

• One parent with the condition gives you a 50% chance of having it
• Both parents with the condition means you'll definitely have it
• Siblings or children of affected people have higher chances
• Certain ethnic groups, like French Canadians and Afrikaners, have higher rates
• People with Ashkenazi Jewish heritage may have specific genetic variants

Unlike other cholesterol problems, your diet, weight, or exercise habits don't cause familial hypercholesterolemia. However, these lifestyle factors can still affect how severe your cholesterol levels become and how quickly complications develop.

What are the Possible Complications of Familial Hypercholesterolemia?

The main concern with familial hypercholesterolemia is that it significantly increases your risk of heart disease and stroke at a younger age. Without treatment, people with this condition often develop cardiovascular problems decades earlier than the general population.

Common complications include:

• Coronary artery disease (blocked arteries to your heart)
• Heart attacks, often occurring in the 40s or 50s
• Stroke from blocked arteries to your brain
• Peripheral artery disease (blocked arteries in your legs)
• Aortic valve disease from cholesterol buildup

The good news is that early diagnosis and treatment can dramatically reduce these risks. With proper management, many people with familial hypercholesterolemia live normal, healthy lives without experiencing these serious complications.

How Can Familial Hypercholesterolemia be Prevented?

Since familial hypercholesterolemia is genetic, you can't prevent getting the condition itself. However, you can take steps to prevent or delay its complications once you know you have it.

Early screening is your best prevention strategy. If you have a family history, getting tested in your 20s allows for early treatment before artery damage occurs.

While you can't change your genes, healthy lifestyle choices can help manage your cholesterol levels. Regular exercise, a heart-healthy diet, not smoking, and maintaining a healthy weight all support your treatment and reduce cardiovascular risks.

How is Familial Hypercholesterolemia Diagnosed?

Diagnosis starts with a simple blood test called a lipid panel that measures your cholesterol levels. Your doctor will look for total cholesterol above 300 mg/dL or LDL cholesterol above 190 mg/dL, especially if you're young and healthy.

Your doctor will also ask detailed questions about your family history. They'll want to know if parents, siblings, or children have had high cholesterol, early heart attacks, or strokes.

Genetic testing can confirm the diagnosis by identifying the specific gene mutations. This testing is especially helpful for family screening and determining exactly which type you have. Some people also get specialized tests to check how their liver processes cholesterol.

What is the Treatment for Familial Hypercholesterolemia?

Treatment focuses on lowering your cholesterol levels to reduce your risk of heart disease and stroke. The goal is to get your LDL cholesterol as low as possible, often below 70 mg/dL.

Most people need prescription medications called statins, which help your liver work more efficiently. Common statins include atorvastatin, rosuvastatin, and simvastatin. Your doctor might start with one and adjust the dose or add other medications as needed.

For severe cases or when statins aren't enough, additional treatments include:

• PCSK9 inhibitors (injectable medications given every 2-4 weeks)
• Ezetimibe (blocks cholesterol absorption in your intestines)
• Bile acid sequestrants (help remove cholesterol from your body)
• LDL apheresis (a procedure that filters cholesterol from your blood)

People with homozygous familial hypercholesterolemia might need more intensive treatments like regular apheresis or even liver transplantation in rare cases. The key is working closely with your doctor to find the combination that works best for you.

How to Take Home Treatment During Familial Hypercholesterolemia?

While medications are essential, lifestyle changes can support your treatment and help you feel your best. Think of these as tools that work alongside your prescriptions, not replacements for them.

Focus on heart-healthy eating with plenty of fruits, vegetables, whole grains, and lean proteins. Limit saturated fats, trans fats, and cholesterol-rich foods, though remember that your condition isn't caused by diet.

Regular physical activity helps your cardiovascular system stay strong. Aim for at least 150 minutes of moderate exercise weekly, such as brisk walking, swimming, or cycling. Start slowly and build up gradually if you're new to exercise.

Take your medications exactly as prescribed, even if you feel fine. Set up a routine or use pill organizers to help you remember. Don't stop taking medications without talking to your doctor first, as your cholesterol levels can quickly rise again.

How Should You Prepare for Your Doctor Appointment?

Gather your family medical history before your appointment, focusing on heart disease, high cholesterol, and early deaths. Write down which relatives had these problems and at what ages they occurred.

Bring a list of all medications, supplements, and vitamins you're currently taking. Include the doses and how often you take them. This helps your doctor avoid interactions and plan your treatment safely.

Prepare questions about your condition, treatment options, and what to expect. Ask about target cholesterol levels, potential side effects of medications, and how often you'll need follow-up tests. Don't hesitate to ask for clarification if something doesn't make sense.

What's the Key Takeaway About Familial Hypercholesterolemia?

Familial hypercholesterolemia is a manageable genetic condition that requires lifelong treatment, but with proper care, you can live a full and healthy life. Early diagnosis and treatment are crucial for preventing heart disease and other complications.

The most important thing to remember is that this condition isn't your fault, and it's not something you could have prevented through lifestyle choices. It's simply a genetic variation that affects how your body processes cholesterol.

With today's effective treatments, people with familial hypercholesterolemia can achieve near-normal cholesterol levels and significantly reduce their cardiovascular risks. The key is working closely with your healthcare team and staying committed to your treatment plan.