doi:10.1016/j.atherosclerosis.2019.06.319engBea, A.M.Lamiquiz-Moneo, I.Marco-Benedi, V.Mateo-Gallego, R.Perez-Calahorra, S.Jarauta, E.Martin, C.Cenarro, A.Civeira, F.Lipid-lowering response in subjects with the p.(leu167del) mutation in apoe geneART-2019-123637ePoster EAS19-0388 Background and Aims: Approximately 20-30% of clinically defined familial hypercholesterolemia (FH) cases do not show a causative mutation in candidate genes. The p.(Leu167del) mutation in the APOE as a new cause of FH has recently been described. The aim of this work was to compared the effect of lipid lowering drugs among FH subjects with a functional mutation in the LDLR gene (LDLR FH) and FH with the p.(Leu167del) mutation in the APOE gene. Methods: We retrospectively selected all adults with the p.(Leu167del) mutation on lipid-lowering treatment (n=22) attending the Lipid Unit at the Hospital Universitario Miguel Servet, Zaragoza, Spain. Age and sex matched LDLR FH from the same Lipid Unit were randomly selected as a control group (n=44). Results: The p.(Leu167del) carriers presented triglycerides and C-reactive protein concentrations significantly higher than LDLR FH, (p <0.001, and p <0.03, respectively). Mean follow-up under lipid-lowering drugs was 4 years in p.(Leu167del) carriers and 3 years in LDLR FH without a significant difference between groups (p = 0.330). The mean percentage reduction in LDL cholesterol was significantly higher in the p.(Leu167del) carriers (-52.1%) than in the LDLR FH (-39.7%) (p = 0.040) when on high intensity statins. Similar differences between groups were observed in non-HDL cholesterol -49.4 % and -36.4%, respectively (p = 0.030). Conclusions: Subjects with p.(Leu167del) mutation have a higher lipid-lowering response to statins with or without ezetimibe than LDLR FH subjects. This supports the use of genetics for more efficient management of FH subjects.2019http://zaguan.unizar.es/record/14817710.1016/j.atherosclerosis.2019.06.319http://zaguan.unizar.es/record/148177oai:zaguan.unizar.es:148177Atherosclerosis 287 (2019), e109byhttp://creativecommons.org/licenses/by/3.0/es/info:eu-repo/semantics/openAccess