Aims The first aim was to critically evaluate the extent to which familial
hypercholesterolaemia (FH) is underdiagnosed and undertreated. The second aim was to
provide guidance for screening and treatment of FH, in order to prevent coronary heart
disease (CHD). Methods and results Of the theoretical estimated prevalence of 1/500 for
heterozygous FH,< 1% are diagnosed in most countries. Recently, direct screening in a
Northern European general population diagnosed approximately 1/200 with heterozygous …

Autosomal dominant familial hypercholesterolaemia (FH) is the most common inherited
disorder known to cause premature coronary heart disease in people of European descent.
The estimated prevalence of FH is 1 in 500, and heterozygous FH carries a high risk of
premature coronary disease if left untreated (. 50% risk in men by the age of 50 and. 30% in
women by 60 years). However, the condition is underdiagnosed and it is estimated that,
20% of index cases are ascertained. With the notable exception of The Netherlands, there is …