Lipid-lowering response in subjects with the p.(Leu167del) mutation in the APOE gene

Bea, A.M. ; Lamiquiz-Moneo, I. ; Marco-Benedí, V. ; Mateo-Gallego, R. (Universidad de Zaragoza) ; Pérez-Calahorra, S. ; Jarauta, E. (Universidad de Zaragoza) ; Martín, C. ; Cenarro, A. ; Civeira, F. (Universidad de Zaragoza)

Resumen: Background and aims: The aim of this work was to compared the effect of lipid lowering drugs among familial hypercholesterolemia (FH) subjects with a functional mutation in LDLR (LDLR FH) and FH with the p.(Leu167del) mutation in APOE.
Methods: We retrospectively selected all adults with the p.(Leu167del) mutation on lipid-lowering treatment (n = 22) attending the Lipid Unit at the Hospital Miguel Servet. Age and sex matched LDLR FH from the same Unit were randomly selected as a control group (n = 44).
Results: The mean percentage reduction in LDLc 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-HDLc -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. This supports the use of genetics for a more efficient management of FH.

Idioma: Inglés

DOI: 10.1016/j.atherosclerosis.2019.01.024

Año: 2019

Publicado en: Atherosclerosis 282 (2019), 143-147
ISSN: 0021-9150

Factor impacto JCR: 3.919 (2019)

Categ. JCR: PERIPHERAL VASCULAR DISEASE rank: 16 / 65 = 0.246 (2019) - Q1 - T1
Categ. JCR: CARDIAC & CARDIOVASCULAR SYSTEMS rank: 42 / 138 = 0.304 (2019) - Q2 - T1

Factor impacto SCIMAGO: 1.515 - Cardiology and Cardiovascular Medicine (Q1)

Financiación: info:eu-repo/grantAgreement/EUR/ISCII-ERDF/A way to make Europe
Financiación: info:eu-repo/grantAgreement/ES/MINECO/PI13-02507
Financiación: info:eu-repo/grantAgreement/ES/MINECO/PI15-01983

Tipo y forma: Article (PostPrint)

Área (Departamento): Área Enfermería (Dpto. Fisiatría y Enfermería)
Área (Departamento): Area Medicina (Dpto. Medicina, Psiqu. y Derm.)