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

      Highlights

      • The p.(Leu167del) mutation in APOE has been described as a new cause of familial hypercholesterolemia (FH).
      • The p.(Leu167del) carriers were on significantly lower dose of statin than LDLR FH.
      • The p.(Leu167del) carriers had higher lipid-lowering effect to statins than LDLR FH.
      • Our results support the use of genetics for a more efficient management of FH.

      Abstract

      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.

      Keywords

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