Journal
ATHEROSCLEROSIS
Volume 282, Issue -, Pages 143-147Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/j.atherosclerosis.2019.01.024
Keywords
APOE; p.(Leu167del); Familial hypercholesterolemia; Lipid-lowering treatment
Funding
- Spanish Ministry of Economy and Competitiveness [PI15/01983, PI13/02507]
- CIBERCV
- Cuenca Villoro Foundation
- Instituto de Salud Carlos III
- European Regional Development Fund (ERDF) of the European Union A way to make Europe
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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.
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