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.
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 very young age. People with a severe form of this condition usually die at a young age.
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. This can lead to:
The build-up of plaque can also cause:
The doctor will ask about your symptoms and medical history. A physical exam will be done.
Tests may include:
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.
If you or your child has FH 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 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.
If you or your child has inherited the gene mutation from both parents, along with cholesterol lowering medications, treatment may also include:
National Heart, Lung, and Blood Institute
National Organization for Rare Disorders
Canadian Cardiovascular Society
Familial hypercholesterolemia. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. 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_abstract.html?disname=Familial%20Hypercholesterolemia. Accessed May 8, 2013.
Last reviewed March 2014 by Marcin Chwistek, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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