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.
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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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.
FH itself does not cause symptoms. However, the high levels of LDL can lead to:
FH increases the risk of cardiovascular disease at a young age. This can include:
A physical exam and blood tests will be done. The following factors will help your doctor make a diagnosis:
Other tests may also be done to rule out other conditions.
FH will need lifelong treatment. The goal is to:
A combination of lifestyle and medicine is most often used.
Daily habits can affect your cholesterol levels and heart health. Healthy habits include:
Diet and exercise alone may not be enough. Adding medicine may help to lower cholesterol to safer levels. Options include:
The options will depend on age, severity of FH, and overall health.
FH 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.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