What is familial hypercholesterolemia?

Familial hypercholesterolemia, or "FH," is a disorder that causes too much cholesterol and fat to build up in the body. When this happens inside the arteries that supply blood to the heart, it can cause heart attacks. So people with FH can have heart attacks at a young age.

FH is passed on in families. There are 2 main forms:

• Heterozygous FH – The person gets the FH gene from just 1 parent. They have a higher chance of having heart attacks as adults.

• Homozygous FH – The person gets the FH gene from both parents. This is much more severe than heterozygous FH. The person has very high levels of cholesterol. They have a very high risk of having heart attacks as children or young adults, unless they get treatment.

What are the symptoms of FH?

The most serious symptom is a heart attack. But people can take medicines to reduce the risk of heart attack.

FH can also cause firm, fatty deposits called "xanthomas" to form under the skin. They can form on different parts of the body, such as at the heel of the foot, around the knee or elbow, and around the eyes.

Is there a test for FH?

Yes. Routine blood tests can measure cholesterol. If the person's cholesterol levels are unusually high, the doctor or nurse will try to figure out if FH is the cause. They will ask questions and do an exam. They can also order more blood tests.

Children should get routine cholesterol tests once around age 9 to 11 and again around age 17 to 21. Some children get tested younger if they have a parent with FH or if they show symptoms of FH, such as xanthomas.

How is FH treated?

It is usually treated with "statin" medicines, which lower cholesterol. Some people get other medicines to lower cholesterol, too. People with the most severe forms of FH need other special treatments.

If you have FH, it's very important you take your medicines exactly as instructed. This is because the medicines can prevent you from having a heart attack and help you live longer. If the medicines cause any problems, or if you have trouble affording them, talk to your doctor or nurse. They might have ways to help.

Your doctor and other health care providers might also suggest you make diet changes.

Should my family be tested for FH?

If you have FH, your doctor or nurse might recommend your "first-degree" relatives get tested for FH. This includes parents, siblings, and children.

What if I want to get pregnant?

Talk to your doctor before you start trying. They will need to check your heart to make sure pregnancy is safe. You might also need to stop taking your FH medicines before you start trying to get pregnant. This is because certain medicines can increase the chance of pregnancy loss (miscarriage) and giving birth too early.

There is a good chance you will pass on FH to your baby. Before you start trying to get pregnant, you and your partner should meet with your doctor to learn about the possible risks to your baby. If you get pregnant without trying to, talk to your doctor right away.

What will my life be like?

If you take your medicines as instructed, follow your diet plan, and do the other things your doctor recommends, you will greatly reduce your chances of having a heart attack. Even so, you have an increased risk of heart attacks and strokes, so you should learn to recognize their symptoms (figure 1 and figure 2).

Images

figure 1: Heart attack symptoms

This picture shows the main symptoms of a heart attack. People who are having a heart attack often have only some of these symptoms. The pain, pressure, and discomfort caused by a heart attack mostly affect the left side of the body, but can also affect the right.

Women are more likely than men to have symptoms other than chest pain. But chest pain or discomfort is the most common symptom of a heart attack in both women and men.

If you think that you are having a heart attack, call for an ambulance (in the US and Canada, call 9-1-1). Do not try to get yourself to the hospital.

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figure 2: BE FAST to help remember stroke symptoms

One way to help remember stroke symptoms is to think of the words "BE FAST." If a person shows any of these signs, call for an ambulance right away (in the US and Canada, call 9-1-1).

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