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Genetic and Rare Diseases Information Center (GARD)

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Familial hypercholesterolemia


* Not a rare disease
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What are the signs and symptoms of familial hypercholesterolemia? 

Signs and symptoms in individuals with the autosomal dominant form of familial hypercholesterolemia (FH), also called the heterozygous form, may include:[1]

Men who have FH may have heart attacks in their 40s to 50s, and 85% of men with the disorder have a heart attack by age 60. Affected women may have heart attacks in their 50s and 60s.[2]

Individuals with the rare, autosomal recessive form of FH (also called homozygous FH) develop xanthomas beneath the skin over their elbows, knees and buttocks as well as in the tendons at a very early age, sometime in infancy.[2] In individuals with this form of FH, heart attacks and/or death may occur before age 30, sometimes in young children if they are not aggressively treated.[2][1]

Last updated: 10/22/2013

  1. Familial Hypercholesterolemia. NORD. July 25, 2011; Accessed 10/22/2013.
  2. Learning About Familial Hypercholesterolemia. NHGRI. March 23, 2011; Accessed 10/22/2013.