Moutafis C D, Simons L A, Myant N B, Adams P W, Wynn V
Atherosclerosis. 1977 Mar;26(3):329-34. doi: 10.1016/0021-9150(77)90085-5.
The faecal excretion of total bile acids was measured in two normal subjects and in seven patients with familial hypercholesterolaemia (four heterozygotes and three homozygotes) in the untreated state and during treatment with near-maximal doses of cholestyramine. There were no significant differences between the three groups. The increase in bile-acid excretion in response to cholestyramine was as great in the homozygotes as in the normal subjects. It is concluded that familial hypercholesterolaemia is not generally due to an inherited defect in the mechanisms for catabolizing cholesterol to bile acids.
在两名正常受试者以及七名家族性高胆固醇血症患者（四名杂合子和三名纯合子）中，测量了未治疗状态下以及使用接近最大剂量消胆胺治疗期间总胆汁酸的粪便排泄量。三组之间没有显著差异。纯合子对消胆胺产生的胆汁酸排泄增加与正常受试者一样显著。由此得出结论，家族性高胆固醇血症通常并非由于胆固醇分解为胆汁酸的机制存在遗传性缺陷所致。
