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by Rebecca J. Stahl, MA
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.
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.
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.
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:
Hardening of the arteries can lead to:
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.
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:
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:
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: 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: 5/1/2014
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