148177 20250114175434.0 doi 10.1016/j.atherosclerosis.2019.06.319 sideral 123637 ART-2019-123637 eng Bea, A.M. Lipid-lowering response in subjects with the p.(leu167del) mutation in apoe gene 2019 ePoster 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. Access copy available to the general public Unrestricted info:eu-repo/semantics/openAccess by http://creativecommons.org/licenses/by/3.0/es/ 3.919 2019 PERIPHERAL VASCULAR DISEASE 16 / 65 = 0.246 2019 Q1 T1 CARDIAC & CARDIOVASCULAR SYSTEMS 42 / 138 = 0.304 2019 Q2 T1 1.515 2019 Cardiology and Cardiovascular Medicine 2019 Q1 info:eu-repo/semantics/conferenceObject info:eu-repo/semantics/publishedVersion Lamiquiz-Moneo, I. Universidad de Zaragoza (orcid)0000-0002-9647-0108 Marco-Benedi, V. Mateo-Gallego, R. Universidad de Zaragoza (orcid)0000-0001-6650-8294 Perez-Calahorra, S. Universidad de Zaragoza (orcid)0000-0002-1894-1621 Jarauta, E. Universidad de Zaragoza (orcid)0000-0001-9142-0737 Martin, C. Cenarro, A. Civeira, F. Universidad de Zaragoza (orcid)0000-0001-7043-0952 1006 255 Universidad de Zaragoza Dpto. Fisiatría y Enfermería Área Enfermería 1003 027 Universidad de Zaragoza Dpto. Anatom.Histolog.Humanas Area Anatom.Embriol.Humana 1007 610 Universidad de Zaragoza Dpto. Medicina, Psiqu. y Derm. Area Medicina 287 (2019), e109 Atherosclerosis Atherosclerosis 0021-9150 54176 http://zaguan.unizar.es/record/148177/files/texto_completo.pdf Versión publicada 3400237 http://zaguan.unizar.es/record/148177/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:148177 articulos driver 2025-01-14-15:48:54 ARTICLE