Homozygous Familial Hypercholesterolemia

What Is Homozygous Familial Hypercholesterolemia?

Homozygous familial hypercholesterolemia is a disorder where it is hard 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.

If that's not enough, there are special treatments including one 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.

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:

• Chest pain (angina)
• Rapid heartbeat
• Shortness of breath

Getting a Diagnosis

Your doctor will do a physical exam and also take some blood tests. To help make a diagnosis, they 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.

Treatment

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

You will likely be referred to a doctor that specializes in treating people with cholesterol or lipid disorders. Your doctor will probably recommend that you stick to a diet that's low in saturated fat, cholesterol, and sugar.

They may need to try different combinations of drugs and treatments until they find one that works best for you.

Taking Care of Yourself

Practice smart lifestyle habits to lower your risk of heart disease. If you smoke, stop. You should limit alcohol consumption, try to reduce stress, treat/ manage high blood pressure and diabetes and aim for a healthy weight.

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.

Read more on: cholesterol management