Lipid-lowering response in subjects with the p.(leu167del) mutation in apoe gene

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

Resumen: 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.

Idioma: Inglés

DOI: 10.1016/j.atherosclerosis.2019.06.319

Año: 2019

Publicado en: Atherosclerosis 287 (2019), e109
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)

Tipo y forma: Congress (Published version)

Área (Departamento): Área Enfermería (Dpto. Fisiatría y Enfermería)
Área (Departamento): Area Anatom.Embriol.Humana (Dpto. Anatom.Histolog.Humanas)
Área (Departamento): Area Medicina (Dpto. Medicina, Psiqu. y Derm.)