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 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
can occur at a 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
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: AnginaCoronary artery disease (CAD)
Heart attackStrokeEarly death
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.
If FH was inherited from one parent, treatment typically includes:
Alow-fat, low-cholesterol diet
may be recommended. You may need to work with a registered dietitian.
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.
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.
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 bloodLiver transplant—may be done in severe cases where the condition is getting worse and treatment has been unsuccessful
FH is an inherited condition. It cannot be prevented.
Familial hypercholesterolemia. National Institutes of Health website. Available at:
https://history.nih.gov/exhibits/genetics/sect2b.htm. Accessed January 26, 2015.
Familial hypercholesterolemia. National Organization of Rare Disorders website. Available at:
http://rarediseases.org/rare-diseases/familial-hypercholesterolemia. 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 March 2016 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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