Abstract
Aim: Familial Hypercholesterolaemia (FH) is a vastly under-diagnosed genetic disorder associated with early development of coronary heart disease (CHD) and premature mortality, which can be substantially reduced by effective treatment. Patents have recently expired on high-intensity statins used to treat FH, reducing treatment costs. Here we build a model using UK data to estimate the costs and benefits of DNA testing of relatives of those with monogenic FH.
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