More than 600,000 Americans have inherited high levels of cholesterol, known as familial hypercholesterolemia (FH). But 80% of those affected are undiagnosed—and have no idea they are at risk.

What is Familial Hypercholesterolemia (FH)?

  • Familial means it runs in families; sometimes it is possible to trace the disease over several generations
  • Hypercholesterolemia means high blood cholesterol
  • The type of cholesterol that is very high in FH is called Low Density Lipoprotein Cholesterol (LDL-C). This can cause an early heart attack.
  • Individuals with FH often look perfectly healthy, and may have this disorder without realizing it.

FH patients have mutations in their genes that limit the body’s ability to remove cholesterol, thereby increasing the amount of cholesterol in their bloodstream. Abnormally high levels of cholesterol in the bloodstream can lead to serious and potentially fatal problems with the heart and blood vessels, including heart attack, stroke and even death. FH causes progressive build-up of artery-blocking plaque; patients may not recognize any symptoms or be aware of the condition. The first symptoms can be a fatal heart attack or stroke.

When Should I Suspect FH?


  • A routine blood test shows high cholesterol
  • A heart attack before the age of 50-60
  • Family history of cardiovascular disease early in life
  • Swollen tendons (called tendon xanthomas) on the heels and hands
  • Yellowish areas (cholesterol deposits) around the eyes

Treatment Options

The aim of treatment is to reduce your LDL-cholesterol to an acceptable level, thereby preventing or delaying heart disease. A lipidologist, a health care provider who specializes in treating diseases like FH, can develop the best treatment plan for you. To locate a lipidologist in your area, visit

  • Lifestyle modification—A change in diet is the first step in reducing cholesterol levels. Physical activity will help reduce your risk of heart disease.
  • Medication—The most important cholesterol-reducing drugs used to treat FH are statins. These medications work by reducing cholesterol production in cells. Other medications such as ezetimibe, niacin and bile acid sequestrants may also be taken to lower LDL levels. Almost all people with FH will need medication throughout most of their lifetime.
  • Apheresis—In extreme cases of FH where other treatments have failed it may be necessary to mechanically remove LDL-cholesterol from the blood.

Cholesterol Levels in FH

Blood tests may show:

  • High levels of total cholesterol
    Greater than 250 mg/dL in children
    Greater than 300 mg/dL in adults
  • High LDL cholesterol levels
    Greater than 170-200 mg/dL in children
    Greater than 220 mg/dL in adults
  • Apheresis—In extreme cases of FH where other treatments have failed it may be necessary to mechanically remove LDL-cholesterol from the blood.

What About My Children?


FH Patient Tear Sheet

This handy tear sheet provides an explanation for patients on what FH is all about, how it is diagnosed and how it affects the family.

We are unable to supply Patient Tear Sheets in printed form. Tear Sheets are provided for your convenience and your patients and may be reproduced without modification digitally or in print with copyright and attribution information intact.

Patient Tear Sheet

The National Lipid Association

For more information about the National Lipid Association or its charitable arm, the Foundation of the National Lipid Association, please visit these links.