Tanno N, Oikawa S, Koizumi M, Kotake H, Hirakawa H, Kanazawa Y, Toyota T
Third Department of Internal Medicine, Tohoku University School of Medicine, Sendai, Japan.
Dig Dis Sci. 1994 Jul;39(7):1586-91. doi: 10.1007/BF02088069.
The lipid composition of fasting duodenal bile was determined in 11 healthy subjects with normolipidemia and 15 patients with heterozygous familial hypercholesterolemia (FH) (12 with type IIa, three with type IIb). The age distribution among the groups of subjects was similar. In the patients with heterozygous FH type IIa, the mean value for molar percentage of cholesterol and lithogenic index (LI) of bile were significantly higher than those of controls (8.4 +/- 1.0%, 1.47 +/- 0.18 calculated by Hegard, Dam, and Holzbach vs 4.3 +/- 0.4%, 0.81 +/- 0.07, respectively). The value of LI in the patients with FH type IIb was also found to be significantly higher than that of the controls. In the patients with heterozygous FH type IIa, we observed both a significant decrease in the molar percentages of glycochenodeoxycholic acid, glycoursodeoxycholic acid, and glycolithocholic acid, and a significant increase of taurochenodeoxycholic acid compared to the corresponding values in the controls. Bile analysis of six patients was reexamined during probucol treatment after 16 weeks. Probucol significantly lowered serum cholesterol levels. However, biliary lipid composition and individual bile acid proportions was not altered by the treatment. The results suggest that most of the patients with heterozygous FH have supersaturated bile and are predisposed to cholesterol gallstone formation. In addition, the mechanism by which probucol lowers serum cholesterol appears to be independent of any change in the metabolism of biliary lipid.
对11名血脂正常的健康受试者和15名杂合子家族性高胆固醇血症（FH）患者（12例IIa型，3例IIb型）的空腹十二指肠胆汁脂质成分进行了测定。各受试者组间的年龄分布相似。在杂合子FH IIa型患者中，胆汁胆固醇摩尔百分比和致石指数（LI）的平均值显著高于对照组（分别为8.4±1.0%，由Hegard、Dam和Holzbach计算得出的致石指数为1.47±0.18，而对照组分别为4.3±0.4%，0.81±0.07）。FH IIb型患者的LI值也显著高于对照组。在杂合子FH IIa型患者中，与对照组相应值相比，我们观察到甘氨鹅去氧胆酸、甘氨熊去氧胆酸和甘氨石胆酸的摩尔百分比显著降低，而牛磺鹅去氧胆酸显著增加。在16周的普罗布考治疗后，对6例患者的胆汁分析进行了复查。普罗布考显著降低了血清胆固醇水平。然而，治疗并未改变胆汁脂质成分和各胆汁酸比例。结果表明，大多数杂合子FH患者胆汁过饱和，易患胆固醇胆结石。此外，普罗布考降低血清胆固醇的机制似乎与胆汁脂质代谢的任何变化无关。
