Familial Hypercholesterolemia (FH) is a heritable condition which causes significant elevations of plasma cholesterol and increased risk of cardiovascular disease. The effects of elevated cholesterol on the vasculature can be observed from childhood.
Early intervention with cholesterol lowering treatment effectively lowers cholesterol concentrations and substantially reduces cardiovascular disease. However, it is estimated that only 15% of affected individuals are clinically diagnosed in the
Genetic testing of families of individuals with a genetic diagnosis of the condition provides an effective method of improving early diagnosis of the condition. The recent roll-out of an All-Wales genetic cascade testing programme for familial hypercholesterolemia (All-Wales FH testing Service) aims to reduce the social, economic and emotional burden of this under diagnosed condition.
There are strong links with the Wales Gene Park who have supported a research officer post and also the patient and family forum via the Genetic Alliance.
Blood screening that is preventing heart attacks – The Guardian, 22 January 2013.
Last updated: 01/08/2013