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Familial Hypercholesterolemia



Familial hypercholesterolemia (FH) is an inherited condition. It causes high levels of total cholesterol. It also increases levels of low density lipoprotein (LDL), or bad cholesterol. These high cholesterol levels increase a person’s risk for developing heart disease.

Causes    TOP

The liver removes LDL cholesterol from the blood. It does this by making receptors that attach to LDL cholesterol. With FH, there are problems with the receptors. There may be too few receptors, or they may not work as they should.

The Liver and Other Organs

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Copyright © Nucleus Medical Media, Inc.

These problems are caused by a genetic mutation on chromosome 19. FH may be inherited from one or both parents.

If inherited from both parents, the condition is severe. Heart disease and heart attacks can occur at a young age. People with a severe form of this condition usually die at a young age.

Risk Factors    TOP

If one of your parents has the gene mutation for FH, you are at higher risk for the condition. If both your parents have the gene mutation, you have an even higher chance of having the condition.

Symptoms    TOP

FH increases the risk of developing atherosclerosis at a young age. This is the hardening of arteries from plaque build-up. The build-up of plaque can also cause:

  • Thick and painful tendons, especially the Achilles tendon.
  • Xanthomas—fatty deposits beneath the skin most commonly found on the elbows, tendons, knees, hands, feet, and buttocks
  • Xanthelasmas—fatty deposits on the eyelids
  • Eye problems—fatty deposits on the cornea

Hardening of the arteries can lead to:

Diagnosis    TOP

You will be asked about your symptoms and medical history. A physical exam will be done.

Your body fluids may be tested. This can be done with blood tests.

Your heart function may also be tested.

Treatment    TOP

After the diagnosis is made, life-long treatment will be needed. The main treatment goal is lower the risk of developing heart disease, stroke, or other problems from atherosclerosis. This can be done not only by lowering your cholesterol levels, but also by decreasing other risk factors for developing heart disease. You may be referred to a lipid specialist.

Treatment for FH Inherited From One Parent

If FH was inherited from one parent, treatment typically includes:

Lifestyle Changes

  • Alow-fat, low-cholesterol diet may be recommended. You may need to work with a registered dietitian.
  • Regular exercise is important. Talk to the doctor before starting an exercise program.
  • If you smoke, talk to the doctor about programs to help you quit.
  • Maintaining a healthy weight is important. If you are overweight, talk to the doctor about how to lose weight.
  • Make sure other medical conditions, such as high blood pressure and diabetes, are being treated and controlled.


Because FH is an inherited condition, diet and exercise is often not enough to lower high cholesterol levels. In most cases, cholesterol-lowering medications called statins are prescribed. Statins may be able to reduce the risk of heart disease and death. In some cases, other cholesterol-lowering medications are also prescribed. These medications are best used as additions to diet and exercise and should not replace healthy lifestyle changes.

Treatment for FH Inherited From Both Parents

If the gene mutation was inherited from both parents, along with cholesterol lowering medications, treatment may also include:

  • Apheresis—a process that uses a special machine to filter LDL from the blood
  • Liver transplant—may be done in severe cases where the condition is getting worse and treatment has been unsuccessful

Prevention    TOP

FH is an inherited condition. It cannot be prevented.


National Heart, Lung, and Blood Institute
NORD—National Organization for Rare Disorders


Dietitians of Canada
Heart and Stroke Foundation of Canada


Familial hypercholesterolemia. EBSCO DynaMed Plus website. Available at: http://www.dynamed.... Updated January 8, 2018. Accessed March 26, 2018.
Familial hypercholesterolemia. National Institutes of Health website. Available at: Accessed March 26, 2018.
Familial hypercholesterolemia. National Organization of Rare Disorders website. Available at: Accessed March 26, 2018.
Hypercholesterolemia. Genetics Home Reference——US National Library of Medicine website. Available at: Updated March 20, 2018. Accessed March 26, 2018.
Last reviewed March 2018 by EBSCO Medical Review Board Marcin Chwistek, MD
Last Updated: 5/1/2014

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This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.

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