591909 Health Library | Health and Wellness | Wellmont Health System
  • Familial Hypercholesterolemia



    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 (eg, in their 20s).

    Risk Factors

    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:
    • 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


    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
      • Total cholesterol may be over 300 mg/dl (5.1 mmol/L) *
      • LDL cholesterol may be over 220 mg/dl (12.2 mmol/L) *
      Your doctor may also do these tests:
    *mg/dl = milligrams per deciliter; mmol/L = millimole per liter


    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.

    Treatment for FH Inherited From One Parent

    If you or your child has FH from one parent, treatment typically includes:
    Lifestyle Changes
    • Diet—a low-fat, low-cholesterol diet may be recommended. You may need to work with a dietitian.
    • Exercise— Regular exercise is very important. Talk to the doctor before starting an exercise program.
    • If you smoke, quit .
    • If you are overweight, 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 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. These medicines are best used as additions to diet and exercise and should not replace healthy lifestyle changes.

    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


    FH is an inherited condition. It cannot be prevented. The sooner treatment is started, the better the outcome.


    National Heart, Lung, and Blood Institute http://www.nhlbi.nih.gov/

    National Organization for Rare Disorders http://www.rarediseases.org/


    Canadian Cardiovascular Society http://www.ccs.ca/

    Health Canada http://www.hc-sc.gc.ca/index%5Fe.html/


    Carson-DeWitt R. High cholesterol. EBSCO Health Library website. Available at: http://www.ebscohost.com/healthLibrary/ . 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%5Fcontent&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%5Fabstract.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/healthLibrary/ . Updated November 2009. Accessed April 12, 2010.

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