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Hypercholesterolaemia - familial - Background information
What is it?

  • Familial hypercholesterolaemia (FH) is characterized by high cholesterol concentration in the blood, present from birth and caused by an inherited genetic defect, leading to early development of atherosclerosis and coronary heart disease.
    • Most affected individuals have heterozygous FH: they have inherited a defective gene for FH from one parent only.
    • Rarely, an affected individual will have homozygous FH: they have inherited a defective gene from both parents.

[NICE, 2008]

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