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Familial Hypercholesterolemia


Updated September 26, 2008

Definition: Familial hypercholesterolemia is a rare, inherited condition that is characterized by extremely high LDL cholesterol levels, or "bad" cholesterol, in the blood. Familial hypercholesterolemia, or FH, can cause atherosclerosis and heart disease at an early age.

A few genes have been linked in causing FH, such as the LDL receptor protein, which removes LDL cholesterol from the blood, apolipoprotein B, and some other newly reported mutations.

Also Known As: FH
Alternate Spellings: familial hypercholesterolaemia
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