000148177 001__ 148177
000148177 005__ 20250114175434.0
000148177 0247_ $$2doi$$a10.1016/j.atherosclerosis.2019.06.319
000148177 0248_ $$2sideral$$a123637
000148177 037__ $$aART-2019-123637
000148177 041__ $$aeng
000148177 100__ $$aBea, A.M.
000148177 245__ $$aLipid-lowering response in subjects with the p.(leu167del) mutation in apoe gene
000148177 260__ $$c2019
000148177 5060_ $$aAccess copy available to the general public$$fUnrestricted
000148177 5203_ $$aePoster 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.
000148177 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000148177 590__ $$a3.919$$b2019
000148177 591__ $$aPERIPHERAL VASCULAR DISEASE$$b16 / 65 = 0.246$$c2019$$dQ1$$eT1
000148177 591__ $$aCARDIAC & CARDIOVASCULAR SYSTEMS$$b42 / 138 = 0.304$$c2019$$dQ2$$eT1
000148177 592__ $$a1.515$$b2019
000148177 593__ $$aCardiology and Cardiovascular Medicine$$c2019$$dQ1
000148177 655_4 $$ainfo:eu-repo/semantics/conferenceObject$$vinfo:eu-repo/semantics/publishedVersion
000148177 700__ $$0(orcid)0000-0002-9647-0108$$aLamiquiz-Moneo, I.$$uUniversidad de Zaragoza
000148177 700__ $$aMarco-Benedi, V.
000148177 700__ $$0(orcid)0000-0001-6650-8294$$aMateo-Gallego, R.$$uUniversidad de Zaragoza
000148177 700__ $$0(orcid)0000-0002-1894-1621$$aPerez-Calahorra, S.$$uUniversidad de Zaragoza
000148177 700__ $$0(orcid)0000-0001-9142-0737$$aJarauta, E.$$uUniversidad de Zaragoza
000148177 700__ $$aMartin, C.
000148177 700__ $$aCenarro, A.
000148177 700__ $$0(orcid)0000-0001-7043-0952$$aCiveira, F.$$uUniversidad de Zaragoza
000148177 7102_ $$11006$$2255$$aUniversidad de Zaragoza$$bDpto. Fisiatría y Enfermería$$cÁrea Enfermería
000148177 7102_ $$11003$$2027$$aUniversidad de Zaragoza$$bDpto. Anatom.Histolog.Humanas$$cArea Anatom.Embriol.Humana
000148177 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cArea Medicina
000148177 773__ $$g287 (2019), e109$$pAtherosclerosis$$tAtherosclerosis$$x0021-9150
000148177 8564_ $$s54176$$uhttps://zaguan.unizar.es/record/148177/files/texto_completo.pdf$$yVersión publicada
000148177 8564_ $$s3400237$$uhttps://zaguan.unizar.es/record/148177/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000148177 909CO $$ooai:zaguan.unizar.es:148177$$particulos$$pdriver
000148177 951__ $$a2025-01-14-15:48:54
000148177 980__ $$aARTICLE