Heterozygous Familial Hypercholesterolemia Tests

There are some simple exams that can help your doctor figure out if you or your child has heterozygous familial hypercholesterolemia (HeFH), a condition that sends your cholesterol numbers way up.

HeFH runs in families. It causes too much LDL "bad" cholesterol to build up in your blood, which can lead to heart disease.

It's important to get the right diagnosis as early as you can to start treatment to bring your cholesterol levels down.

If you or your child has any of these signs, talk to your doctor to see if you need to get checked for HeFH:

  • High LDL cholesterol on a blood test that won't go down with changes in diet. High means above 190 mg/dL in adults and 160 mg/dL in kids under 16.
  • Family history of high cholesterol
  • You have male relatives who had a heart attack or heart disease before 60, or female relatives who had it before 70.
  • Xanthomas, or bumps under the skin of your elbows, knees, or knuckles
  • Swollen Achilles tendons just above your heels
  • Sore, swollen feet
  • Yellow or white patches on your eyes
  • Chest pain

Medical History and Physical Exam

Your doctor will ask about any medical problems that you or your relatives have. Tell your doctor if any of your parents, grandparents, or other family members have had high cholesterol or heart attacks. Even aunts, uncles, or cousins with these problems could be a sign that HeFH is a concern for your family.

Your doctor or your child's pediatrician will also do a physical exam to look for signs of the disease. He'll check for:

  • Yellowish cholesterol deposits on the skin around your elbows, knees, or knuckles
  • Swollen tendons on the backs of your ankles, above your heels
  • Yellow areas or white spots in your eyes


Blood tests. You or your child may get a blood test called a lipid panel. You'll learn your total cholesterol number and also find out your levels of HDL "good" cholesterol and LDL "bad cholesterol. It also reveals your levels of a blood fat called triglycerides.


If your total cholesterol level is above 300 mg/dL, or your child's is above 250 mg/dL, it's one sign of HeFH. LDL cholesterol levels higher than 200 mg/dL are another sign.

Your doctor can also rule out other causes for your high cholesterol, like your diet, or give you blood tests to check for kidney, liver, or thyroid problems.

Heart tests. An abnormal stress test may be a clue that you have heart disease. This exam shows how well your ticker works when you rev it up. You'll walk on a treadmill while your doctor tracks your heartbeat.

Genetic test. The most common genetic sign of HeFH is a mutation, or change, in your LDLR gene. That's the gene that affects your cholesterol levels.

Changes in these other genes could also suggest you have HeFH:

  • Apolipoprotein B-100
  • PCSK9

You'll need to give a small sample of tissue for this test. You can swab the inside of your cheek to scrape off a few cells, which get sent to a lab to see what gene changes you may have. Babies can get a small skin prick on the heel to collect a little blood instead of a cheek swab.

If high cholesterol or heart attacks run in your family, everyone can be tested for these gene problems.

Why Do You Need an Early Diagnosis?

It's important to spot HeFH as early as you can because it can cause heart attacks at a young age. Get the right diagnosis so you can start treatments as soon as possible.

While kids may not be at risk for a heart attack, their high cholesterol levels put them at risk for heart disease later on. Early treatment or lifestyle changes can help your child lower his cholesterol and stay healthy.

WebMD Medical Reference Reviewed by James Beckerman, MD, FACC on November 05, 2018



Familial Hypercholesterolemia Foundation.

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

Close, G. Deutsches Artzeblatt, published online 2014.

National Lipid Association: "Cholesterol Screening in Children, Adolescents, and Young Adults."

American College of Cardiology: "Genetic Testing in a Lipid Clinic."

American Heart Association: "Exercise Stress Test."

National Institutes of Health Genetics Home Reference: "How is genetic testing done?"

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