Lipid Unit, Hospital Universitario Miguel Servet, IIS Aragon, CIBERCV, Universidad de Zaragoza, Zaragoza, Spain.
Lipid Unit, Hospital Universitario Miguel Servet, IIS Aragon, CIBERCV, Universidad de Zaragoza, Zaragoza, Spain.
Atherosclerosis. 2019 Mar;282:143-147. doi: 10.1016/j.atherosclerosis.2019.01.024. Epub 2019 Jan 29.
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.
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).
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).
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.
本研究旨在比较载脂蛋白 E 基因 p.(Leu167del) 突变的家族性高胆固醇血症（FH）和 LDLR 基因突变的 FH 患者接受降脂药物治疗的效果。
我们回顾性选择了在 Miguel Servet 医院脂质科接受降脂治疗的所有 p.(Leu167del) 突变携带者（n=22）。并随机选择了来自同一科室的 LDLR FH 患者作为对照组（n=44）。
当使用高强度他汀类药物时，p.(Leu167del) 突变携带者的 LDLc 降低百分比（-52.1%）明显高于 LDLR FH 患者（-39.7%）（p=0.040）。两组间的非高密度脂蛋白胆固醇（-49.4% 和 -36.4%）也存在类似差异（p=0.030）。
与 LDLR FH 患者相比，p.(Leu167del) 突变携带者使用他汀类药物联合或不联合依折麦布降脂的效果更好。这支持了利用遗传学更有效地管理 FH 的观点。
