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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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Your Question

What are the signs and symptoms of familial hypercholesterolemia? What genes cause this condition?

Our Answer

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What is familial hypercholesterolemia?

Familial hypercholesterolemia (FH) is an inherited condition that causes abnormally high levels of LDL (low density lipoprotein) cholesterol beginning at birth. When too much LDL cholesterol is present in the blood stream, it builds up in the walls of the arteries and increases the risk of heart attacks and heart disease. Men with FH may have heart attacks in their 40s to 50s, and women with FH may have them in their 50s to 60s.[1] FH is most commonly caused by mutations in the LDLR gene and is usually inherited in an autosomal dominant manner. More rarely, it may be caused by mutations in other genes and can be inherited in an autosomal recessive manner.[2] Treatment focuses on lowering LDL cholesterol levels in the blood and may include dietary modification and medication.[1]
Last updated: 10/22/2013

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:[3]

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.[1]

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.[1] 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.[1][3]

Last updated: 10/22/2013

What genes are related to familial hypercholesterolemia?

Familial hypercholesterolemia is caused by mutations in the LDLR gene which is located on chromosome 19. The defect makes the body unable to remove LDL cholesterol from the bloodstream. This results in consistently high levels of LDL in the blood, which leads to atherosclerosis at an early age as well as deposits of cholesterol in other tissues like the skin and tendons.[4][5] 

Last updated: 10/22/2013