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Understanding FH: A Common Genetic Disease Causing Dangerously High Cholesterol

Familial hypercholesterolemia (FH) is a genetic disease that causes dangerously high levels of LDL cholesterol (also known as the body’s “bad” cholesterol) to build up in the blood.[1] People with FH have elevated LDL levels starting in infancy and throughout life, putting them at risk of atherosclerosis, heart attack and stroke early in life.[2]

Xanthelasma palpebrarum are yellowish patches of cholesterol deposits. They’re often more commonly found in individuals with Familial Hypercholesterolemia

Though high cholesterol is still widely perceived as a health issue for older people, FH is one of the most common inherited disorders in the world.  It affects about 1 in 500 people, including more than 1.6 million people in the U.S. and Europe.[3]  FH is found in all ethnic groups, but can be 3-5 times more common in some people of French Canadian, South African Afrikaaner, Lebanese and Ashkenazi-Jewish descent.[4]

Dr. Samuel S. Gidding

It is especially important for families to recognize that FH is a serious genetic disease.  Children, siblings or parents of a person with FH will have a 50% chance of having FH themselves.  Because many people with FH are young and can appear healthy, it often goes undiagnosed. If a family member has FH, the National Lipid Association (NLA) recommends screening for FH for all parents, children (beginning at age 2) and siblings of that family member or if there is a family history of early CVD (before age 55 in men and age 65 in women). [5] In further recognition of the problem of high cholesterol in children, in November 2011 the National Heart, Lung, and Blood Institute and the American Academy of Pediatrics endorsed new guidelines calling for cholesterol screening in all children at age 9-11 years.

Health risks associated with FH

In people with FH, life-long high levels of cholesterol increase the risk of early cardiovascular disease (CVD).  Without treatment, the risk of developing premature CVD is 20 times higher in people with FH compared to the general population.[6]  Half of all men with FH will develop CVD by age 50, and 30% of all women with FH will develop CVD by age 60.[7]  Children with FH develop atherosclerosis at up to five times the rate of unaffected siblings and differences in atherosclerosis between FH and non-FH children are evident as early as age 12.  [8]

The diagnosis of FH

FH can generally be easily diagnosed through:

  • blood cholesterol tests
  • a review of family history
  • identification of clinical symptoms

Some patients with FH develop xanthomata, a condition where deposits of excess cholesterol appear as yellowish bumps near tendons throughout the body or around the eye.[9] Some patients also develop a condition called arcus, where cholesterol deposits appear as white areas in the eye. While arcus is common in older people, in people younger than 45 it is considered a sign of FH. [10]

According to the NLA, FH should be suspected in adults with LDL-C levels of 190 mg/dL or higher and in children, adolescents and young adults under age 20 with LDL-C levels of 160 mg/dL or higher.                                                    

Treatment options for FH

A low cholesterol, low saturated fat diet plays an important role in efforts to reduce cholesterol levels.  In patients with FH, because of the genetic defect, modifications in diet alone are unlikely to help reduce cholesterol levels sufficiently.  Available therapies can work well to reduce LDL levels for many people living with FH, especially when diagnosed early. Treatment options for FH include statins, fibrates, niacin, cholesterol absorption inhibitors, and bile acid sequestrants.  For most FH patients, treatment with medication (usually a statin) reduces the risk of heart attack later in life.  Treatment with statins in children with FH often begins at age 10 or younger.

In some cases, patients may have a more severe form of FH where LDL levels remain high despite treatment with standard cholesterol lowering therapies. In these patients, LDL levels can still be 2-4 times higher than recommended, even after treatment with cholesterol lowering medications. An estimated 20,000 people in the U.S. and E.U. are living with severe FH.

Both the European Society of Cardiology and the NLA recommend that patients with severe FH should be referred to a lipid specialist for treatment.  Some patients with severe FH may be treated with a procedure known as LDL apheresis, where blood is filtered to remove excess cholesterol. However this option is invasive and costly, and is not widely available. Scientists are also currently working to develop new treatment options for severe FH. For more information about FH, visit www.fhjourneys.com.

 


  • [1] Marks D, et al. Atherosclerosis. 2003; 168:1-14.
  • [2] Huijgen R, et al. Expert Reviews Cardiovascular Therapeutics. 2008;6(4):567-581.
  • [3] Austin M, et al. American Journal of Epidemiology. 2004;160(5):407-420.
  • [4] Austin M, et al. American Journal of Epidemiology. 2004;160(5):407-420.
  • [5] Goldberg A, et al. Journal of Clinical Lipidology. 2011; (5)3:133-140.
  • [6] Goldberg A, et al. Journal of Clinical Lipidology. 2011; (5)3:133-140.
  • [7] Marks D, et al. Atherosclerosis. 2003; 168:1-14
  • [8] Wiegman A, et al. Lancet. 2004;363:369-370.
  • [9] Marks D, et al. Atherosclerosis. 2003; 168:1-14
  • [10] Marks D, et al. Atherosclerosis. 2003; 168:1-14
Dr. Gidding is the Division Chief of Cardiology, Nemours Cardiac Center and Professor of Pediatrics at Jefferson Medical College.

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