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 and, thus, untreated. Diagnosis is challenging because patients typically are asymptomatic, may not know their family history, are unaware of the seriousness of the diagnosis and may not even be seeing a physician regularly. In addition, the phenotypic diagnosis requires more than just serum cholesterol levels. In this issue of Heart , Carvalho and colleagues1 demonstrated the feasibility of the FH Case Ascertainment Tool (FAMCAT) for identifying patients likely to have FH in a cohort of 777 128 primary care patients in London. The FAMCAT score is based on systematic screening of routine primary care records for cholesterol measurements, age, triglycerides, family history, diabetes, kidney disease and current use of lipid-lowering drugs (figure 1). The use of FAMCAT to identify patients likely to have FH could ensure more accurate and rapid diagnosis (and subsequent treatment) for this group of patients at high risk of cardiovascular disease.