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.

  • Causes

    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.

  • Definition


    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.

  • Diagnosis

    The doctor will ask about your symptoms and medical history. A physical exam will be done.

    Tests may include:

    • Blood tests for cholesterol levels
    • Heart function tests
    • Genetic testing to look for the gene mutation

  • Prevention

    FH is an inherited condition. It cannot be prevented.

  • 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.

  • Symptoms


    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:

    • Angina
    • Coronary artery disease (CAD)
    • Heart attack
    • Stroke
    • Early death


    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

  • Treatment

    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.