Stacpoole P W, Swift L L, Greene H L, Slonim A E, Younger R K, Burr I M
Am J Med. 1982 Jun;72(6):889-93. doi: 10.1016/0002-9343(82)90847-6.
Homozygous familial hypercholesterolemia is refractory to standard dietary or drug therapy. Recent studies, however, suggest that a high-carbohydrate/low-fat diet may reduce circulation cholesterol levels in normal or hyperlipidemic subjects. In this regard, we treated a nine year old boy with homozygous familial hypercholesterolemia with a liquid formula diet containing 82 to 90 percent of total calories as glucose. The diet was given as a constant nasogastric infusion or as intermittent daytime drinks followed by a nighttime infusion. Plasma total and low-density lipoprotein cholesterol fell from basal levels of 719 mg/dl and 676 mg/dl to 456 mg/dl and 434 mg/dl, respectively, after one week of therapy. After approximately 14 weeks of treatment, plasma total and low-density lipoprotein cholesterol levels were 311 mg/dl and 277 mg/dl, each representing approximately a 58 percent decrease from basal levels. The fall in circulating cholesterol levels was accompanied by a regression of xanthomatous skin lesions, a rise in plasma insulin levels and no change in plasma glucose or glucagon concentrations. No adverse effects of therapy occurred. We conclude that high-carbohydrate diets may be a safe and effective adjunct in the treatment of homozygous familial hypercholesterolemia.
纯合子家族性高胆固醇血症对标准饮食或药物治疗无效。然而，最近的研究表明，高碳水化合物/低脂饮食可能会降低正常或高脂血症患者的循环胆固醇水平。在这方面，我们用一种液体配方饮食治疗了一名患有纯合子家族性高胆固醇血症的9岁男孩，该饮食中葡萄糖提供的热量占总热量的82%至90%。饮食通过持续鼻胃输注或日间间歇性饮用后夜间输注的方式给予。治疗一周后，血浆总胆固醇和低密度脂蛋白胆固醇分别从基础水平的719mg/dl和676mg/dl降至456mg/dl和434mg/dl。经过大约14周的治疗，血浆总胆固醇和低密度脂蛋白胆固醇水平分别为311mg/dl和277mg/dl，均比基础水平下降了约58%。循环胆固醇水平的下降伴随着皮肤黄色瘤病变的消退、血浆胰岛素水平的升高，而血浆葡萄糖或胰高血糖素浓度没有变化。治疗未出现不良反应。我们得出结论，高碳水化合物饮食可能是治疗纯合子家族性高胆固醇血症的一种安全有效的辅助方法。
