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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.
In familial hypercholesterolemia, individuals homozygous for the allele causing the disorder completely lack receptors on liver cells that take up cholesterol from the blood stream. Heterozygotes have one-half the number of receptors while individuals homozygous for the normal allele are phenotypically normal.