The prevalence of Heterozygous FH is expected to be equal to 1/500. Nevertheless, recent evaluations of FH prevalence in general population seem to show that the prevalence of FH is more likely to be equal to 1/250 to 1/200.

We assessed the prevalence of FH in a representative sample of the French general population.

Analysis was based on the Third French MONICA and MONALISA population-based survey. FH was diagnosed using the modified version of the Dutch Lipid Clinic Network (DLCN): first degree relative (parents) with known premature (<55 years in men;<60 years in women) coronary and vascular (cerebral or peripheral) disease or hypercholesterolemia (1 point); Patient with premature coronary artery disease (2 points); Patient with premature cerebral or peripheral vascular disease (1 point); LDL-C≥8.5mmol/L (8 points), 6.5–8.4mmol/L (5 points), 5.0–6.4mmol/L (3 points), 4.0–4.9mmol/L (1 point). LDL-C was corrected (multiplied by 1.43) for subjects under statin or ezetimibe. FH was considered as definite or probable for a total>8 points or equal to 6–8 points, respectively.

DLCN score was assessed in 7929 participants aged 35–74 (50% were men). The prevalence of definite or probable FH was 0.41% [95% CI: 0.27%–0.56%]. Among subjects with FH, 21% had a history of premature coronary artery disease, cerebral or peripheral vascular disease (versus less than 1% among subjects without FH; P-value<0.0001) without significant difference for the level of the standard cardiovascular risk factors not including in the DLCN score. At baseline, 74% of the subjects with FH were treated by a statin therapy. Mean LDL-C was 5.4mmol/L (±1.0) and 8.1mmol/L (±1.1) in subjects with FH with and without treatment, respectively (P-value<0.0001).

In a sample from the French general population aged 35–74, the prevalence of FH was close to 1/250 and more than 1/4 of the subjects with FH were not treated.