Familial Hypercholesterolemia
En Español (Spanish Version)

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

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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 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. 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
Hardening of the arteries can lead to:

Diagnosis
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
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 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.
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. 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
FH is an inherited condition. It cannot be prevented.




RESOURCES:
National Heart, Lung, and Blood Institute

National Organization for Rare Disorders

CANADIAN RESOURCES:
Canadian Cardiovascular Society


References:
Familial hypercholesterolemia. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. Updated January 12, 2015. Accessed January 26, 2015.

Familial hypercholesterolemia. National Institutes of Health website. Available at: http://history.nih.gov/exhibits/genetics/sect2b.htm. Accessed January 26, 2015.

Familial hypercholesterolemia. National Organization of Rare Disorders website. Available at: http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Familial%20Hypercholesterolemia. Accessed January 26, 2015.

Hypercholesterolemia. Genetics Home Reference website. Available at: http://ghr.nlm.nih.gov/condition=hypercholesterolemia. Updated March 2007. Accessed January 26, 2015.

Last Reviewed January 2015



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