Prevalence and Treatment of familial hypercholesterolemia in France

ABSTRACT BACKGROUND Familial hypercholesterolemia (FH) is known to be underdiagnosed and undertreated. The prevalence of heterozygous FH is estimated to be 1/500. Nevertheless, a recent meta-analysis of screening in the general population seems to show that the prevalence of FH is more likely to be 1/250. METHODS Analysis was based on the third French MONICA and MONALISA population surveys. Participants were randomly recruited in 1995 and 2005 from the general population of three regions of France. FH was diagnosed using a modified version of the Dutch Lipid Clinic Network (DLCN) without genetic testing. RESULTS The DLCN score was assessed in 7928 participants aged 35–74 years (50% were men). The prevalence of definite or probable FH was 0.85% [95% CI: 0.63–1.06]. Among subjects with definite or probable FH, 12% had a history of premature cardiovascular disease (versus less than 1% among subjects without FH; P CONCLUSIONS In a sample from the French general population aged 35–74 years, the prevalence of FH was close to 1/120 and the subjects with FH were undertreated.