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Health Library

Familial Hypercholesterolemia

What Is Familial Hypercholesterolemia?

Familial hypercholesterolemia is a condition that causes very high levels of LDL (“bad”) cholesterol. It’s genetic, which means that babies can be born with it if one of their parents has it.

While people with the condition have a higher risk for developing heart disease or having a heart attack, early diagnosis and treatment lowers their risk.

What Happens in Familial Hypercholesterolemia?

Normally, the liver clears LDL cholesterol from the blood. But in kids with familial hypercholesterolemia (hi-pur-keh-les-ter-eh-LEE-me-uh), the liver has trouble clearing it. This causes high levels of LDL in the blood that don’t go away without treatment.

Who Is at Risk for Familial Hypercholesterolemia?

The gene for familial hypercholesterolemia passes from parent to child. But the condition often goes undiagnosed because symptoms don’t always show up. If you have an immediate family member who has high cholesterol, developed heart disease, or had a heart attack, it’s possible this condition runs in your family. Talk to your doctor if you think your child or anyone else in your family could have it.

Early diagnosis in children can prevent heart disease, and also can help doctors diagnose the condition in you, your partner, your other children, or other family members.

What Are the Signs & Symptoms of Familial Hypercholesterolemia?

Kids with this condition have a high level of LDL cholesterol in the blood. This is typically:

  • over 160 mg/dL if there is a family history of premature heart disease
  • over 190mg/dL with no family history of premature heart disease

It may be diagnosed in some children who have an LDL of 130mg/dL or higher if there’s a strong family history of high cholesterol or early heart disease.

Many kids and teens with familial hypercholesterolemia don’t have any signs or symptoms. If there are signs or symptoms, these can include:

  • soft, yellow bumps (known as cholesterol deposits) under the skin of the hands, elbows, knees, or along the Achilles tendon (the tendon in the back of the ankle)
  • yellow areas around the eyes, or a white or gray ring around the iris

Because symptoms don’t always happen, it’s important to make sure your child has regular checkups, especially if you have a family history of high cholesterol.

How Is Familial Hypercholesterolemia Diagnosed?

Doctors check cholesterol through a simple blood test called a lipid panel. Your doctor may recommend a lipid panel for your child if you have a family history of high cholesterol, heart disease, or heart attacks.

Children can have this test as early as age 2 if there’s a family history of early heart disease. All children should have it when they’re 9–11 years old and again when they’re 17–21 years old. Children who’ve never had lipid testing before age 11 should have at least one lipid test when they’re 12–17 years old.

Doctors can confirm the diagnosis with genetic tests that pinpoint the gene that causes the disorder.

How Is Familial Hypercholesterolemia Treated?

Regular physical activity and eating a healthy, balanced diet are important for maintaining heart health. But a healthy lifestyle is not enough to treat familial hypercholesterolemia.

Your doctor will discuss treatment options, which may include taking cholesterol-lowering medicines like statin drugs. Depending on how severe the condition is, doctors may recommend these for younger kids, but most children with familial hypercholesterolemia won’t need them until they’re at least 8–10 years old.

Statins are safe for kids and teens, but they can cause side effects, such as liver problems and muscle pain. Talk to your doctor if you’re concerned about how this medicine might affect your child, and how you can help.

Many kids and teens with this condition never have it diagnosed. But for those who do, the good news is that it responds well to treatment when diagnosed early.

What Else Should I Know?

Familial hypercholesterolemia can’t be prevented, but heart disease can. If your child has familial hypercholesterolemia, schedule regular checkups with your doctor to keep track of cholesterol levels. Make sure your child follows the treatment plan.

Because you or your child’s other parent also might have it, it’s a good idea for you, your partner, and any other children to get checked by a doctor.

Encourage everyone in your family to be physically active, follow a healthy diet, and regularly see a doctor.