Abstract
Genetic diagnosis of familial hypercholesterolemia (FH) allows definitive identification of the index case and cascade testing of their family. However the decreasing population rates of coronary artery disease (CAD), and a reduction in the incidence of tendon xanthomata, suggests that existing clinical criteria for phenotypic identification of FH index cases, such as Simon Broome and Dutch Lipid Clinic Network, may be becoming less reliable.
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