Familial hypercholesterolemia (FH) is an autosomal dominant genetic condition causing a high risk of coronary heart disease. The prevalence of this disease is about 1 in 500 in the UK, affecting about 120,000 people across the whole of the UK. Current guidelines recommend DNA testing, however, these guidelines are poorly implemented, therefore 102,000 or 85% of this group remain undiagnosed.
Sharma, P., Boyers, D., Boachie, C., Stewart, F., Miedzybrodzka, Z., Simpson, W., Kilonzo, M., McNamee, P., & Mowatt, G. (2012). Elucigene FH20 and LIPOchip for the diagnosis of familial hypercholesterolaemia: a systematic review and economic evaluation. Health Technology Assessment, 16(17), 1-266. https://doi.org/10.3310/hta16170