Screening for Familial Hypercholesterolaemia

This commentary refers to ‘LDL-cholesterol in newborns and children with genetically verified familial hypercholesterolemia: implications for cholesterol-based screening’, by M. P. Bogsrud et al., https://doi.org/10.1093/eurheartj/ehaf815 and the discussion piece ‘What is the correct screening method for FH, depends on what you aim to find’, by M. P. Bogsrud et al., https://doi.org/10.1093/eurheartj/ehag081. We were pleased to see that the paper by Bogsrud et al.1 confirmed our result in 20072 showing that screening for Familial Hypercholesterolaemia (FH) is better after age 1 than in newborn babies. Since screening performance declines after age 9,2 the age window is between ages 1 and 9. Bogsrud et al.1 describe the overlap in the distributions of LDL-Cholesterol in FH and in non-FH children, by testing for the FH mutation (pathogenic variant) among families known to have this mutation—so called cascade testing. We also showed the overlap in the distributions of LDL-cholesterol in FH and non-FH children in a study in 2016, on 10 095 children, aged 1–2 years, who all had paired LDL-Cholesterol and genetic testing (48 FH mutations per child).3