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
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 (eg, in their 20s).
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, as well as your family history
- Do a physical exam and look for fatty deposits on the skin and eyes
- Do blood tests to check cholesterol levels
- Your doctor may also do these tests:
- Heart function tests (eg, ]]>cardiac stress test]]>)
- Genetic testing to check for gene mutation
Once the diagnosis is made, you or your child will need life-long treatment. The main treatment goal is to lower cholesterol levels. This will reduce the risk of heart disease. The doctor may recommend that you or your child work with a lipid specialist.
Treatment for FH Inherited From One Parent
If you or your child has FH from one parent, treatment typically includes:
Because FH is an inherited condition, diet and exercise will not be enough to lower high cholesterol levels. In most cases, cholesterol-lowering medicines 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 medicines are also prescribed, like ]]>ezetimibe]]>.
Treatment for FH Inherited From Both Parents
If you or your child has inherited the gene mutation from both parents, treatment may also include:
- Apheresis—a process that uses a special machine to filter LDL from the blood
- ]]>Liver transplant]]>—may be done in severe cases where the condition is getting worse and treatment has been unsuccessful
National Heart, Lung, and Blood Institute
National Organization for Rare Disorders
Canadian Cardiovascular Society
Carson-DeWitt R. High cholesterol. EBSCO Health Library website. Available at: http://www.ebscohost.com/thisTopic.php?marketID=15topicID=81. Updated December 2009. Accessed April 12, 2010.
Genetics Home Reference. Hypercholesterolemia. Genetics Home Reference website. Available at: http://ghr.nlm.nih.gov/condition=hypercholesterolemia. Updated April 2010. Accessed April 12, 2010.
Life South Community Blood Centers. Apheresis. Life South Community Blood Centers website. Available at: http://www.lifesouth.org/index.php?option=com_content&view=article&id=47&Itemid=98. Accessed April 12, 2010.
Mayo Clinic. High blood cholesterol. Mayo Clinic website. Available at: http://www.mayoclinic.com/health/ldl-cholesterol/AN01885. Updated August 2008. Accessed April 12, 2010.
National Institutes of Health. Familial hypercholesterolemia. National Institutes of Health website. Available at: http://history.nih.gov/exhibits/genetics/sect2b.htm. Accessed April 12, 2010.
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. Updated November 2008. Accessed April 12, 2010.
The Rogosin Institute. Familial hypercholesterolemia. The Rogosin Institute website. Available at: http://www.rogosin.org/treatment-familial-hypercholesterolemia.php. Accessed April 12, 2010.
Rosenblum L. Atherosclerosis. EBSCO Health Library website. Available at: http://www.ebscohost.com/thisTopic.php?marketID=15topicID=81. Updated November 2009. Accessed April 12, 2010.
Last reviewed May 2010 by ]]>Rosalyn Carson-DeWitt, 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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