Glueck C J, Fallat R W, Millett F, Steiner P M
Arch Intern Med. 1975 Aug;135(8):1025-8.
A 26-member kindred had the newly recognized heritable hyperlipoproteinemia, familial hyperalphalipoproteinemia. In affected family members, hyperalphalipoproteinemia was not secondary to any diseases, drugs, or industrial exposures known to elevate alpha-lipoprotein (high-density) cholesterol (C-HDL) levels. Hyperalphalipoproteinemia was transmitted vertically through three generations. There were five matings of hyperalphalipoproteinemic to normal individuals, with 25 offspring. The ratio of offspring with elevated C-HDL levels to those with normal C-HDL levels was 12:13 (0.923), a ratio not significantly different from 1 (x2 equals 0.04), the ratio predicted for an autosomal dominant trait. In affected kindred members, levels of total plasma cholesterol were slightly elevated, those of low density lipoprotein cholesterol were normal to low, those of triglyceride were normal, and those of C-HDL were consistently elevated. Affected subjects were healthy, without xanthomata, and had no unique physical or neurological features.
一个拥有26名成员的家族患有新发现的遗传性高脂蛋白血症——家族性高α脂蛋白血症。在患病家族成员中,高α脂蛋白血症并非继发于任何已知会升高α脂蛋白(高密度)胆固醇(C-HDL)水平的疾病、药物或职业暴露。高α脂蛋白血症在三代人中呈垂直遗传。有5对高α脂蛋白血症患者与正常人的婚配,共育有25个后代。C-HDL水平升高的后代与C-HDL水平正常的后代之比为12:13(0.923),该比例与常染色体显性性状预测的1相比无显著差异(x2等于0.04)。在患病家族成员中,血浆总胆固醇水平略有升高,低密度脂蛋白胆固醇水平正常至偏低,甘油三酯水平正常,C-HDL水平持续升高。患病个体身体健康,无黄瘤,也没有独特的身体或神经特征。