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What is familial hypercholesterolemia? — Familial hypercholesterolemia is a disorder that causes too much cholesterol and fat to build up in the body. When the cholesterol and fat build up inside the arteries in the heart, they can cause heart attacks. As a result, people with this disorder can have heart attacks at a very young age – sometimes even as children.
Familial hypercholesterolemia, often called "FH," is passed on in families. There are 2 main forms of the condition:
●Heterozygous FH – In this form, a child gets the FH gene from just 1 parent.
●Homozygous FH – In this form, a child gets the FH gene from both parents. This form of FH is much more severe than the other. People with homozygous FH have very high levels of cholesterol. They have a very high risk of having heart attacks and dying young.
What are the symptoms of FH? — The most serious symptom of FH is a heart attack. But thanks to medicines, the rates of heart attacks in people with FH have dropped.
FH can also cause firm, fatty deposits to form under the skin. These deposits are called "xanthomas." 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 to measure cholesterol can show whether a person's cholesterol levels are unusually high. If so, the doctor or nurse can look further for a possible cause and can then find out if FH is the problem.
Children should have 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 signs of FH, such as xanthomas.
How is FH treated? — FH is usually treated with medicines called statins, which lower cholesterol. Some people also get other medicines to lower cholesterol. Plus, people with the most severe forms of FH need other special treatments.
If you have FH, it's very important that you take your medicines every day as directed. If the medicines cause any problems, or if you cannot afford your medicines, talk to your doctor or nurse. They might have possible solutions for you to try. The medicines used to treat FH can keep you from having a heart attack and help you live longer.
Your doctor and other health care providers might also suggest that you make changes to your diet.
What if I want to get pregnant? — Talk to your doctor before you start trying to get pregnant. They will need to check the condition of your heart to make sure pregnancy is safe. Plus, you will need to stop taking your FH medicines for at least 3 months before you start trying to get pregnant. That's because the medicines used to treat FH, including statins, can harm a baby. You should not take your FH medicines while you are pregnant or breastfeeding.
Be aware that there is a good chance you will pass on your disorder 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.
What will my life be like? — If you stay on your medicines, eat right, and do all the things your doctor recommends, you will greatly reduce your chances of having a heart attack. Even so, be aware that you have a high risk of heart attacks and strokes, so you should learn to recognize their symptoms (figure 1 and figure 2).
Patient education: Coronary artery disease (The Basics)
Patient education: Heart attack (The Basics)
Patient education: Stroke (The Basics)
