Deckelbaum R J, Lees R S, Small D M, Hedberg S E, Grundy S M
N Engl J Med. 1977 Mar 3;296(9):465-70. doi: 10.1056/NEJM197703032960901.
Two patients with nomozygous familial hypercholesterolemia, refractory to medical therapy, underwent complete bile diversion by common-duct ligation and cholecystostomy, in an attempt to arrest the progression of their xanthomatosis and atherosclerosis by depletion of body cholesterol. Clofibrate was given after operation to one patient, and cholic acid to both, in an effort to enhance further the negative sterol balance. Bile diversion produced an increase of six to eight times in gastrointestinal sterol output, which was not increased further by either clofibrate or cholic acid therapy. Despite a calculated sterol loss of 560 g over 14 months in one patient and 400 g over 10 months in the other, neither plasma cholesterol nor xanthoma size decreased. Continuity of the biliary tree was therefore restored. The data suggest that patients with homozygous familial hypercholesterolemia respond to even massive gastrointestinal sterol depletion with equal increases in sterol synthesis.
两名纯合子家族性高胆固醇血症患者，药物治疗无效，通过胆总管结扎和胆囊造口术进行了完全胆汁分流，试图通过消耗体内胆固醇来阻止其黄瘤病和动脉粥样硬化的进展。术后给一名患者服用氯贝丁酯，给两名患者都服用胆酸，以进一步增强负性固醇平衡。胆汁分流使胃肠道固醇输出增加了六到八倍，氯贝丁酯或胆酸治疗均未使其进一步增加。尽管一名患者在14个月内计算出固醇损失560克，另一名患者在10个月内损失400克，但血浆胆固醇和黄瘤大小均未降低。因此恢复了胆道树的连续性。数据表明，纯合子家族性高胆固醇血症患者即使面对大量胃肠道固醇消耗，固醇合成也会等量增加。
