In a cross-sectional analysis in the Netherlands, the prevalence of type 2 diabetes (T2D) among patients with familial hypercholesterolemia (FHC) was significantly lower than among unaffected relatives, with variability by mutation type. The study included all individuals (n = 63 320) who underwent DNA testing for FHC in the national Dutch screening program between 1994 and 2014. The prevalence of T2D was 1.75% in FHC patients vs 2.93% in unaffected relatives (P < .001). The adjusted prevalence of T2D in FHC, determined using multivariable regression models, was 1.44% (P < .001). The adjusted prevalence of T2D by apolipoprotein B gene vs low-density lipoprotein receptor gene was 1.91% vs 1.33%, and the prevalence for receptor-deficient vs receptor-negative mutation carriers was 1.44% vs 1.12%, respectively (P for trend <.001 in both comparisons). FHC is characterized by impaired uptake of cholesterol in peripheral tissues. Statins increase the cellular cholesterol uptake and may be associated with increased risk for type 2 diabetes mellitus. However, starting statin therapy early in people with high cholesterol genetic disorders is still warranted. Source: http://jama.jamanetwork.com/荷兰的一个横断面分析中，家族性高胆固醇血症（FHC）患者2型糖尿病（T2D）的患病率比未受影响的亲属显著降低，且随突变类型有所差异。这项研究包括了1994至2014年间荷兰国家筛查项目中所有接受DNA测试FHC的个人（N = 63 320）。FHC患者T2D的患病率为1.75％，而未受影响的亲戚为2.93％（P <0.001） 。经使用多变量回归模型校正，FHC患者T2D的患病率为1.44％（P <0.001）。 经校正的载脂蛋白B基因相对于低密度脂蛋白受体基因的T2D患病率分别为1.91％和1.33％，而受体缺陷相对于受体阴性突变携带者的T2D患病率分别为1.44％和1.12%（两项比较中趋势P <0.001）。 FHC的特征是外周组织中胆固醇的摄取受损。他汀类药物增加了细胞内胆固醇的摄取，并且可能与T2D的风险增加有关。然而，患高胆固醇遗传性疾病者及早开始他汀类药物仍然是必要的。来源：http://jama.jamanetwork.com/
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