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Familial hypercholesterolemia (FH) is a diagnosis which refers to individuals with very significantly elevated low-density lipoprotein (LDL) cholesterol (LDL-C) or bad cholesterol. In heterozygous familial hypercholesterolemia (HeFH), an individual inherits a mutation (alteration) for FH from one (affected) parent.
A buildup of cholesterol in the walls of coronary arteries greatly increases a person's risk of having a heart attack. Most people with familial hypercholesterolemia inherit one altered copy of the LDLR gene from an affected parent and one normal copy of the gene from the other parent.