Abstract

Heterozygous familial hypercholesterolaemia (FH) is a common autosomal dominant inherited metabolic disease with a prevalence of 1 in 500 in most Western countries.^1–3 People with FH experience an increased risk for coronary artery disease (CAD) and excess mortality especially at a young age.^4,5 Until recently the diagnosis of FH was based on clinical signs and symptoms alone. These included increased cholesterol concentrations, in particular of LDL-cholesterol, in combination with the presence of tendon xanthoma, corneal arcus, xanthelasmata and a history of early CAD. Frequently FH was diagnosed after a first cardiac event.