Figure 6.

Overlap of clinical and mutation diagnosis of heterozygous familial hypercholesterolaemia. This figure illustrates the fractions of three different clinical scenarios in a study from Spain,¹⁸ and therefore not necessarily the exact proportions for these three groups in other countries. ‘Mutation without clinical diagnosis’ means definite, probable, or possible familial hypercholesterolaemia with a familial hypercholesterolaemia-causing mutation but with less severely elevated LDL cholesterol (i.e. below the diagnostic threshold). LDL, low-density lipoprotein cholesterol; FH, familial hypercholesterolaemia.