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Familial Hypercholesterolemia

(FH)

Definition

Familial hypercholesterolemia (FH) is a special form of high cholesterol. It is passed down through families. FH increases levels of bad cholesterol (LDL).

LDL can add to build up on blood vessels walls called plaque. This can slow or stop vital blood flow. People with FH have a higher risk of heart disease.

Causes

Changes to certain genes cause FH. These genes make it hard for the liver to remove LDL from the blood.

The gene change may come from one or both parents. FH can be severe if both parents have the gene. A severe form can lead to heart attacks and death at an early age.

The Liver and Other Organs
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Risk Factors

The parent will not always pass the changed gene to their child. However, there is an increased risk of having FH if one parent has the gene defect. The risk increases if both parent have the gene defect.

Symptoms

FH itself does not cause symptoms. However, the high levels of LDL can lead to:

  • Thick and painful tendons
  • Xanthomas —fatty deposits under the skin most common on the elbows, tendons, knees, hands, feet, and buttocks
  • Xanthelasmas —fatty deposits on the eyelids
  • Eye problems—due to fatty deposits on the cornea

FH increases the risk of cardiovascular disease at a young age. This can include:

Diagnosis

A physical exam and blood tests will be done. The following factors will help your doctor make a diagnosis:

  • Presence of fatty deposits in skin, tendons, or eyes
  • High cholesterol, especially in young person
  • Family history of high cholesterol
  • Genetic testing

Other tests may also be done to rule out other conditions.

Treatment

FH will need lifelong treatment. The goal is to:

  • Lower LDL levels
  • Decrease the risk of problems such as heart disease or stroke

A combination of lifestyle and medicine is most often used.

Lifestyle Changes

Daily habits can affect your cholesterol levels and heart health. Healthy habits include:

  • Diet that is:
    • Low in saturated fats and cholesterol
    • High in grains, fruits, vegetables, nuts, and legumes (for soluble fiber and plant sterols)
    • Low in alcohol consumption
  • Regular physical activity
  • If you smoke, talk to the doctor about tools to help you quit. Avoid being around others who smoke.
  • Maintain a healthy weight. If you are overweight, talk to your doctor or a dietitian about how to lose weight.

Medicine

Diet and exercise alone may not be enough. Adding medicine may help to lower cholesterol to safer levels. Options include:

  • Statins—most common first options, may be able to lower risk of heart disease and death
  • Ezetimibe—may be used in those that cannot use statins
  • PCSK9 inhibitors

The options will depend on age, severity of FH, and overall health.

Other Treatments

More severe forms of FH may need one of the following:

  • Apheresis—blood is passed through a machine to pull out LDL. Needs to be repeated every 1-2 weeks.
  • Liver transplant —may be done for those with severe disease that is not helped with medicine.

Prevention

FH cannot be prevented.

RESOURCES:

National Heart, Lung, and Blood Institute
https://www.nhlbi.nih.gov

NORD—National Organization for Rare Disorders
https://rarediseases.org

CANADIAN RESOURCES:

Dietitians of Canada
https://www.dietitians.ca

Heart and Stroke Foundation of Canada
http://www.heartandstroke.ca

REFERENCES:

Familial hypercholesterolemia. EBSCO DynaMed Plus website. Available at:http://www.dynamed.com/topics/dmp~AN~T115368/Familial-hypercholesterolemia. Updated January 8, 2018. Accessed March 26, 2018.

Familial hypercholesterolemia. National Institutes of Health website. Available at: https://history.nih.gov/exhibits/genetics/sect2b.htm. Accessed March 26, 2018.

Familial hypercholesterolemia. National Organization of Rare Disorders website. Available at: https://rarediseases.org/rare-diseases/familial-hypercholesterolemia. Accessed March 26, 2018.

Hypercholesterolemia. Genetics Home Reference——US National Library of Medicine website. Available at: https://ghr.nlm.nih.gov/condition/hypercholesterolemia. Updated March 20, 2018. Accessed March 26, 2018.

Last reviewed March 2018 by EBSCO Medical Review Board Marcin Chwistek, MD  Last Updated: 8/20/2018