Health Library

Familial Hypercholesterolemia

Definition

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

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
IMAGE
Copyright © Nucleus Medical Media, Inc.

These problems are caused by a gene mutation. 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 very young age. People with a severe form of this condition usually die at a young age.

Risk Factors

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

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

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, joints, tendons, knees, hands, feet, and buttocks
  • Xanthelasmas—fatty deposits on the eyelids
  • Eye problems—fatty deposits on the cornea

Diagnosis

The doctor will ask about your symptoms and medical history. A physical exam will be done.

Tests may include:

  • Blood tests for cholesterol levels
  • Heart function tests
  • Genetic testing to look for the gene mutation

Treatment

Once the diagnosis is made, you or your child will need life-long treatment. The main treatment goal is lower you or your child's risk of developing heart disease, strokes 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. The doctor may recommend that you or your child work with a lipid specialist.

Treatment for FH Inherited From One Parent

If you or your child has FH from one parent, treatment typically includes:

Lifestyle Changes
  • Alow-fat, low-cholesterol diet may be recommended. You may need to work with a dietitian.
  • Regular exercise is very 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.
Medication

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 for both children and adults. 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 you or your child has inherited the gene mutation 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

FH is an inherited condition. It cannot be prevented.

Resources

National Heart, Lung, and Blood Institute
http://www.nhlbi.nih.gov
National Organization for Rare Disorders
http://www.rarediseases.org

Canadian Resources

Canadian Cardiovascular Society
http://www.ccs.ca

References

Familial hypercholesterolemia. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/what.php. Updated April 12, 2013. Accessed May 8, 2013.
Genetics Home Reference. Hypercholesterolemia. Genetics Home Reference website. Available at: http://ghr.nlm.nih.gov/condition=hypercholesterolemia. Updated May 6, 2013. Accessed May 8, 2013.
National Institutes of Health. Familial hypercholesterolemia. National Institutes of Health website. Available at: http://history.nih.gov/exhibits/genetics/sect2b.htm. Accessed May 8, 2013
National Organization of Rare Disorders. Familial hypercholesterolemia. National Organization of Rare Disorders website. Available at: http://www.rarediseases.org/search/rdbdetail%5Fabstract.html?disname=Familial%20Hypercholesterolemia. Accessed May 8, 2013.