Homozygous Familial Hypercholesterolemia

What Is Homozygous Familial Hypercholesterolemia?

Homozygous familial hypercholesterolemia makes it harder for your body to remove LDL "bad" cholesterol from your blood. The disease raises your chances of a heart attack at an early age, but drugs and other treatments can lower your risk.

Cholesterol is waxy stuff that's in your cells. LDL's job is to carry cholesterol around your body in your bloodstream.

When you have high levels of LDL, cholesterol builds up in your arteries, the blood vessels that supply oxygen to your heart. The cholesterol can eventually block them and shut off the flow of blood and oxygen to your heart, causing a heart attack.

Homozygous familial hypercholesterolemia is a disease you're born with. You can start developing high cholesterol when you're a child.

It's a serious condition. Without treatment, men with homozygous familial hypercholesterolemia can get heart disease in their 40s, and women can get it in their 50s.

There's no cure, so you'll need to take drugs and follow a heart-healthy diet throughout your life. Your doctor may need to do a bit of "trial and error" until he finds the right drug combination to manage your high cholesterol.

If drugs and diet aren't helping, there's another treatment that takes blood from your body, removes the cholesterol, and then returns the blood back to you.

For some people, this treatment still won't keep cholesterol under control. If that's the case for you, you may need to have a liver transplant. It's major surgery with a lot of recovery time, so it's important to reach out to family and friends to get the emotional support you need.

Causes

When you have homozygous familial hypercholesterolemia, you inherit two copies of a gene that isn't working right, one from each of your parents.

Normally, the liver removes extra LDL cholesterol from the blood using particles called LDL receptors. These receptors attach to LDL cholesterol and play a key role in keeping your cholesterol levels under control. When you have this disease, the faulty gene keeps the LDL receptors from working right. Your cholesterol levels get high.

You may hear the term heterozygous familial hypercholesterolemia. This is a related disease. With it, you inherit the broken gene from only one of your parents. It's not as severe as the homozygous form.

Continued

Symptoms

The main sign that you have this condition is very high levels of total cholesterol and LDL cholesterol. For instance, you may have a total cholesterol level of 600 points or higher. By comparison, the American Heart Association recommends the ideal total cholesterol number be less than 200.

You may have yellow, waxy patches on your skin over the elbows, knees, and buttocks. These are called xanthomas.

Yellowish fat deposits called xanthelasmas can develop in your eyelids. Also, you can get gray or white circles around your cornea, the clear front part of the eye.

Some symptoms of heart disease you may have include:

Getting a Diagnosis

Your doctor will do a physical exam and also take some blood tests. To help make a diagnosis, he may ask you:

  • Have you noticed any yellowish patches on your skin?
  • Do you have any chest pain?
  • Have you ever noticed that you're short of breath?
  • Does your heartbeat ever seem rapid?
  • Do your parents have high cholesterol?

Your doctor will check your cholesterol levels by taking a blood sample and sending it to a lab to be analyzed.

You may have a blood test to look for the abnormal gene that causes this condition. Your doctor might also want to test some of your close relatives to see if they have the disease.

Questions for Your Doctor

  • Do I need to change my diet?
  • Are there drugs that can help lower my cholesterol?
  • How do you check if my treatment is working?
  • If diet and drugs don't lower my cholesterol, are there other treatments that can help?
  • Will my children inherit my condition?

Treatment

The goal is to lower your LDL cholesterol levels, and your risk for heart disease.

Your doctor will probably recommend that you stick to a diet that's low in saturated fat, cholesterol, and sugar.

He may need to try different combinations of drugs and treatments until he finds one that works best for you.

Since homozygous familial hypercholesterolemia raises your cholesterol to extremely high levels, your doctor may start you on high doses of statin drugs. Statins work by stopping your liver from making cholesterol.

Continued

Your doctor may also try combining statins with other drugs that lower the amount of cholesterol that gets into your body from the food you eat. Ezetimibe (Zetia) is one of these drugs.

Statins may also be combined with drugs that help reduce the amount of cholesterol that moves through your blood. Some examples are Colestid, Prevalite, and Welchol.

Two other drugs have been approved for people with homozygous familial hypercholesterolemia: lomitapide (Juxtapid) and mipomersen (Kynamro). You get Kynamro as an injection once a week. Juxtapid comes in a capsule that you can swallow. These drugs lower LDL cholesterol and are meant to be used together with a low-fat diet and other medicines that lower your cholesterol.

If different combinations of medicine aren't doing the job, your doctor may ask you to try a treatment called apheresis. It removes cholesterol from your blood. It's a little bit like dialysis, the treatment that's used for kidney disease. You go to a clinic or hospital where some of your blood is removed through a tube called a catheter. LDL cholesterol is taken out of your blood before it's returned to your body. The procedure takes several hours, and you'll need to do it regularly.

Sometimes, none of the treatments work. In that case, you might need a liver transplant. The new liver will have normal LDL receptors that will remove the bad cholesterol from your blood.

Your doctor will put you on a waiting list for a liver from a donor. A liver transplant is major surgery, and it could take you 6 months to a year before you can return to your regular lifestyle. After your transplant, you'll need to take drugs that prevent your body from rejecting the new liver.

If you're considering a liver transplant, you'll probably need to get some emotional support from family and friends. Support groups can also help by putting you in touch with people who are also getting transplants. Ask your doctor about educational workshops that can help explain what to expect before and after a transplant.

Continued

Taking Care of Yourself

Practice smart lifestyle habits to lower your risk of heart disease.

Eat a diet that's mostly fruits and vegetables, whole grains, nuts, legumes, seafood, lean poultry, and low-fat dairy.

Also, keep the fat in your diet to 30% or less of your daily calories. For example, if you eat 2,000 calories a day, you should eat no more than 65 grams of fat a day. Check food labels to see how much fat is in the food you eat.

Try to avoid or limit sources of saturated fat and cholesterol, such as:

  • Red meat
  • Butter
  • Whole milk
  • Coconut and palm oils
  • Egg yolks

Try to exercise every day, which also will help control your cholesterol levels.

What to Expect

After you've been diagnosed, you'll work closely with a cholesterol specialist called a lipidologist.

While your doctor is trying to find the treatment that works best, you'll probably need to make regular visits to get blood tests to check your cholesterol levels.

It's important to be patient and take the time to get the right treatment plan for you. Sometimes your doctor might need to try several different things before your high cholesterol gets under control.

You'll need to manage your condition throughout your life. Make sure you keep up with the drugs your doctor prescribes, and keep eating a healthy diet.

Sometimes treatments don't work and your heart disease risk remains high. Ask your doctor about joining a clinical trial. These trials test new drugs to see if they're safe and if they work. They often are a way for people to try new medicine that isn't available to everyone.

Make sure you have a support network in place that you can give you an emotional lift when you need it. You can also join a support group to get ideas and help from other people who know what you're going through.

Getting Support

To learn more about homozygous familial hypercholesterolemia, visit the web site of the FH Foundation. It's got information about how to join a clinical trial and where to find specialists.

WebMD Medical Reference Reviewed by Suzanne R. Steinbaum, MD on November 21, 2017

Sources

SOURCES:

National Human Genome Research Institute: "Learning About Familial Hypercholesterolemia."

National Organization for Rare Disorders: "Familial Hypercholesterolemia."

News release, FDA.

Medscape reference: "Familial Hypercholesterolemia."

American Liver Foundation: "Liver Transplant."

FH Foundation: "About FH."

Health.gov: "Choose a diet low in fat, saturated fat, and cholesterol."

© 2017 WebMD, LLC. All rights reserved.

Pagination