What Is Heterozygous Familial Hypercholesterolemia?
You've probably heard that you need to watch your cholesterol to keep heart disease away. That's also true of heterozygous familial hypercholesterolemia. The disease can cause your cholesterol numbers to go way up. If your doctor tells you that you have it, it's important to get treatment to cut your chances of a heart attack or stroke.
You don't catch HeFH the way you might pick up a cold. It's a condition you're born with that was passed down to you from genes you got from your parents. Over time, your high cholesterol levels can damage your arteries, which carry blood and oxygen from your heart to the rest of your body. That raises your chances of a heart attack at a young age.
Diet, exercise, and, most important, medicine can bring down your levels of cholesterol. Learn your risk for HeFH and get treated early to cut your chances of heart disease.
Causes
HeFH is caused by a change in a gene that makes it harder for your body to remove LDL cholesterol from your bloodstream.
Cholesterol is a fatty, waxy substance in your blood and cells. It travels through your body in two forms: HDL and LDL.
HDL helps carry cholesterol to your liver to be removed from your body. It's called "good" cholesterol. LDL is known as "bad" cholesterol because it damages arteries and can lead to heart disease.
If you have HeFH, you inherit a faulty gene from one of your parents. If you're a parent and you have the gene, you've got a 50-50 chance of passing it to each of your children.
HeFH affects about 1 out of every 500 people. In white people whose families came from Europe, the rate may be as high as 1 in every 200 people.
You may hear about a disease with a similar name called homozygous familial hypercholesterolemia (HoFH). It differs from HeFH in the way it's passed down from your parents. Instead of getting a faulty gene from just one of your parents, you get HoFH when you inherit one faulty gene from each parent.
HoFH is more severe than HeFH, but it's rare. Only about 1 out of every 1 million people have it.
Symptoms
Without treatment, HeFH will cause your LDL and total cholesterol levels to go extremely high.
Extra LDL cholesterol can form clumps called plaque in the walls of your arteries. The plaque narrows the arteries so less blood can flow through them. This is called hardening of the arteries.
When this happens, your heart has to work harder to push blood through your body. Over time, your heart can get damaged, and you can get heart disease. If that happens, one of the main symptoms is chest pain called angina. Without any treatment, it can lead to a heart attack or stroke.
Narrowed blood vessels can prevent enough blood from reaching your heart. Or a piece of plaque can break off and get stuck in a blood vessel that supplies blood to your heart or your brain.
If blood flow to your heart gets blocked, you'll have a heart attack and parts of your heart muscle can die. If you're a man and you don't get treatment, you can have a heart attack as early as your 40s or 50s. If you're a woman, you're also at a higher risk for a heart attack, but it can often happen later in your life, possibly in your 60s.
Get medical help right away if you have symptoms of a heart attack:
- Pressure, squeezing, or pain in your chest
- Pain in your upper back or neck
- Pain that radiates down the arms
- Nausea or vomiting
- Shortness of breath
- Fatigue
Get emergency medical help right away if you have warning signs of a stroke, including:
- Trouble speaking
- Weakness in your arm or leg
- Drooping of your face on one side
- Loss of balance
High cholesterol in your blood can also cause other symptoms.
Xanthomas
These are bumps under your skin that form when extra cholesterol in your blood clumps together. They're usually yellow or orange.
You're most likely to see them in your tendons, especially in the Achilles tendon in the back of your heel and in the joints of your hands.
Sometimes, these growths can also form on your:
- Hands
- Elbows
- Knees
- Feet
- Buttocks
Some xanthomas may be very small. Others may grow as large as 3 inches. Smaller bumps can join together to form larger growths. They don't necessarily cause pain, but it depends on their location.
Xanthelasmas
These are xanthomas that grow on your eyelids. They're yellow and form near the inner corner of your eye, often on the upper lid. You'll usually see the same-shaped growth on both the left and right eyelids. They can get larger over time and may be permanent.
Achilles tendinitis
When xanthomas form in your Achilles tendon, they can cause Achilles tendinitis: pain, stiffness, and swelling in the back of the heel.
Corneal arcus
It's a condition you get when cholesterol forms deposits around the outside of your cornea, the clear cover over the front of your eye.
It looks like a white or gray ring around the iris, the colored part of your eye. It won't affect your vision.
Getting a Diagnosis
Some simple exams can help your doctor figure out if you or your child has HeFH. It's important to get the right diagnosis, as early as you can, to start treatment to bring your cholesterol levels down.
Although kids may not be at risk for a heart attack, their high cholesterol levels put them at risk for heart disease later on. Early treatment or lifestyle changes can help your child lower their cholesterol and stay healthy.
If you or your child has any of these signs, talk to your doctor to see if you need to get checked for HeFH:
- High LDL cholesterol on a blood test that won't go down with changes in diet. High means above 190 milligrams per deciliter (mg/dL) in adults and 160 mg/dL in kids under 16.
- Family history of high cholesterol
- Male relatives who had a heart attack or heart disease before 60, or female relatives who had either before 70
- Xanthomas
- Swollen Achilles tendons
- Sore, swollen feet
- Yellow or white patches on your eyes
- Chest pain
Your doctor or your child's pediatrician will also do a physical exam to look for signs of the disease.
Tests
Your doctor will also do one or more tests to check you or your child for HeFH.
Blood tests. If your doctor thinks you have HeFH, they’ll do a blood test to check your cholesterol level. With HeFH, your:
- Total cholesterol level will be over 300 mg/dL
- LDL cholesterol level will be over 200 mg/dL
Heart tests. An abnormal stress test may be a clue that you have heart disease. This exam shows how well your ticker works when you rev it up. You'll walk on a treadmill while your doctor tracks your heartbeat.
Genetic test. The most common genetic sign of HeFH is a mutation, or change, in your LDLR gene. That's the gene that affects your cholesterol levels.
Changes in these other genes could also suggest you have HeFH:
- Apolipoprotein B-100
- PCSK9
- LDLRAP1
You'll need to give a small sample of tissue for this test. You can swab the inside of your cheek to scrape off a few cells, which get sent to a lab to see what gene changes you may have. Babies can get a small skin prick on the heel to collect a little blood instead of a cheek swab.
If high cholesterol or heart attacks run in your family, everyone can be tested for these gene problems.
Questions for Your Doctor
- Which medicines are best for me?
- Do the medications have side effects?
- What new symptoms should I watch for?
- How often should I see you?
- Do I need to see any other specialists? Which ones?
- Do I need to lose weight?
- Which foods should I avoid?
- How much exercise should I do, and what types are best?
Treatment
If you've been diagnosed with heterozygous familial hypercholesterolemia (HeFH), your doctor will work with you to figure out the best way to treat the disease. Whatever you decide, the goal is to lower your levels of LDL "bad" cholesterol and cut your risk for heart disease. Often, it can take a combo of drugs -- along with diet and exercise -- to get your cholesterol numbers down.
Lifestyle changes
Studies with people who have HeFH show that the healthier your lifestyle, the less likely you are to get heart disease in the future.
Try to maintain a healthy weight, keep your blood pressure under control, and stay away from tobacco. Talk to your doctor about how to make these changes in the safest way for you. Here are some more tips for healthier habits:
Eat a low-fat diet. Avoid foods high in saturated and trans fats, like beef, pork, coconut oil, egg yolks, and whole milk. Instead, eat more veggies, fruits, whole grains, nuts, seafood, lean poultry, and low-fat dairy.
You can track what you eat by keeping a journal or working with a nutritionist. Once you learn some easy tips on what foods to avoid or substitute, the diet will become second nature. Some ways to get started:
- Stay away from prepackaged, highly processed, and deep-fried foods.
- Avoid butter, margarine, salad dressing, and mayonnaise. Try vegetable oil instead.
- Choose lean meat like chicken, fish, and turkey, and avoid red or fatty meat like beef and bacon.
- Limit drinks with alcohol or a lot of sugar.
- Eat a wide variety of fruits, veggies, and whole grains.
Exercise. Walk, swim, dance, bike, climb stairs, and do other activities that make your heart pump harder. Even if you eat an ideal diet and are at a healthy weight, it's important to stay active. Do some aerobic exercise -- activity that gets your heart pumping -- for at least 30 minutes, four or more times a week, to help lower the levels of fats and cholesterol in your blood.
Set a goal for how much you want to exercise, and start slowly. Then slowly increase the number of times per week you work out and the length of time you do it.
Lose extra weight. If you're overweight, drop some pounds with diet and exercise.
If you smoke, stop. Ask your doctor for ways to quit. Cigarettes raise your risk for heart disease.
Medical treatment
Lifestyle changes are usually not enough to treat HeFH. You'll take medicine, too, to lower your cholesterol levels.
Statins. The first type of drug that your doctor may prescribe is called a statin. It blocks one of the compounds your body needs to make cholesterol and helps it absorb cholesterol that's in your blood. Because HeFH can send your cholesterol levels way up, your doctor may suggest high doses of statins.
Studies show that taking the maximum amounts of rosuvastatin or atorvastatin -- the strongest statin drugs -- can lower your LDL levels by more than 50%. Other statins include:
PCSK9 inhibitors. Alirocumab (Praluent) and evolocumab (Repatha) are drugs in this group. They make it easier for your liver to remove LDL cholesterol from your blood. Your doctor may recommend these medications if you take the maximum dose of statins but still have high LDL levels. Evolocumab has been approved for treatment in preventing heart attacks or strokes in people with cardiovascular disease.
Ezetimibe (Zetia). This is a drug that stops your body from absorbing all the cholesterol you eat. It often works well when combined with statins. Your doctor may suggest Liptruzet, which contains atorvastatin and ezetimibe, or Vytorin, a medication that's a combo of ezetimibe and a statin called simvastatin.
Other drugs. It's not uncommon for people with HeFH to take two, three, or even four drugs to lower cholesterol. Your doctor may also prescribe bile acid sequestrants (colesevelam, WelChol), fibrates (fenofibrate, gemfibrozil), and nicotinic acid (Niaspan, Slo-Niacin).
Procedures
If medication and lifestyle changes aren't enough to lower your LDL levels, your doctor may suggest other methods to help prevent heart disease.
LDL apheresis. This is a safe and effective way to remove all the LDL from your blood by filtering it. You'll relax in a hospital bed while your blood is slowly drawn through a machine and sent back into your body. Some people feel light-headed, flushed, or nauseated while it's going on. To have the most benefit, you'll probably have to repeat the procedure every few weeks to continue removing LDL from your blood.
Liver transplant. You may hear people talk about liver transplants as a possible treatment, but they're rarely used for HeFH. They're more commonly used to treat homozygous familial hypercholesterolemia (HoFH).
What to Expect
To protect your heart and prevent heart disease, you'll need to manage HeFH throughout your life. You'll probably need to keep up a good diet, exercise, and take statins and other drugs to control your cholesterol.
Tests can find out if your other family members have HeFH. Close relatives like your siblings or children may want to get them so they can take steps to lower their LDL cholesterol and prevent heart problems.
If you plan to start a family, ask your doctor if you should have genetic testing before you get pregnant to find out if your baby could be at risk.
Getting Support
Talk to your doctor about finding ways to meet others who have HeFH. They can share with you tips for diet and exercise that have helped them.
Also reach out to family and friends to get their backing and support -- especially for the diet and lifestyle changes that are an important part of HeFH treatment.
You can get information on resources from the FH Foundation. The organization helps people understand their diagnosis and better manage their health.
