Heartbeat: improved diagnosis of familial hypercholesterolaemia

Familial hypercholesterolaemia (FH) is the most common autosomal dominant genetic condition, affecting about 1 in 250 people, caused by a pathogenic variant in one of several genes involved in lipoprotein cholesterol catabolism. Treatment of elevated serum low-density lipoprotein cholesterol in people with FH substantially reduces the risk of ischaemic heart disease and cardiovascular mortality. Yet, the vast majority of FH cases are undiagnosed...