0084: Big data and LDL: heterozygous familial hypercholesterolemia is common in France

Background Heterozygous Familial Hypercholesterolemia (HeFH) is a severe autosomal dominant disease which is under-diagnosed. The prevalence of HeFH has rarely been assessed in an unselected sample from the general population. Methods Based on a huge sample of lipid panels, we assessed the prevalence of individuals classified with definite or probable HeFH (Dutch Lipid Clinic Network (DLCN) criteria) u003e5 that is to say LDL-cholesterol (LDL-C) u003e6.5mmol/L (251mg/dL). From 2006 to 2015, 200 620 LDL-C were obtained from 105 398 subjects in a large database of a French University Hospital. Subjects from 0 to 102 years (53.7±20.5) and of both genders were analysed. LDL-C levels were calculated with the Friedewald or the Planella formula if elevated triglycerides. We also assessed the prevalence of all DLCN LDL-C criteria: 4.0-4.9mmol/L (155-190mg/dL); 5.0-6.4mmol/L (191-250mg/dL); 6.5-8.4mmol/L (251-325mg/dL); u003e8.5mmol/L (u003e325mg/dL). Results The prevalence of LDL-C between 4.0 and 4.9mmol/L was 9.81% [95% CI: 9.68-9.94]; the prevalence of LDL-C between 5.0 and 6.4mmol/L was 2.41% [95% CI: 2.35-2.48]; the prevalence of LDL-C between 6.5 and 8.4mmol/L was 0.37% [95% CI: 0.34-0.39] and the prevalence of LDL-C u003e8.5mmol/L was 0.09% [95% CI: 0.08-0.10]. In the first lipid determinations of 105 398 subjects, the prevalence of LDL-C between 4.0 and 4.9mmol/L was 10.77% [95% CI: 10.6-11.0]; between 5.0 and 6.4mmol/L was 2.47% [95% CI: 2.38-2.56]; between 6.5 and 8.4mmol/L was 0.28% [95% CI: 0.25-0.32] and of LDL-C u003e8.5mmol/L was 0.06% [95% CI: 0.04-0.07]. The prevalence of definite or probable HeFH was 0.46% in 200 620 lipid determinations and 0.34% in 105 398 subjects. The highest prevalence of definite or probable HeFH was in subjects aged between 35 and 55 years. Conclusions In France, the prevalence of definite or probable HeFH was 1/250 adults, very closed to the observed prevalence of 1/200 obtained in the Copenhagen General Population Study.