Baldo G, Fellin R, Manzato E, Baiocchi M R, Ongaro G, Baggio G, Fabiani F, Pauluzzi S, Crepaldi G
Clin Chim Acta. 1983 Mar 14;128(2-3):307-19. doi: 10.1016/0009-8981(83)90330-3.
The results of plasma lipid and lipoprotein analysis in two related patients, brother (R.U.) and sister (R.R.) with analbuminemia, and three first-degree relatives (parents and sister) are reported. Both patients showed a remarkable increase in cholesterol and phospholipid levels, and there was a corresponding increase in serum apo B and apo A-I. This hyperlipidemia is due to a selective increase in LDL and HDL concentrations. R.U. showed an increase in both HDL2- and HDL3-cholesterol, R.R. only in HDL3-cholesterol. VLDL concentration was reduced in R.U. and normal in R.R. The plasma lipoprotein electrophoretic pattern did not correspond to any of the phenotypes in Fredrickson's classification. Composition of the different lipoprotein fractions was normal in the patients and family members. Serum FFA level in R.R. was very low. An increase in the plasma protein fractions, particularly the transport fractions, was confirmed in both patients. The possible pathophysiology of the hypercholesterolemia in these patients is discussed. Unlike other reported cases, clinical signs of atherosclerotic complications were absent.
报告了两名患有无白蛋白血症的相关患者（哥哥R.U.和妹妹R.R.）以及三名一级亲属（父母和妹妹）的血脂和脂蛋白分析结果。两名患者的胆固醇和磷脂水平均显著升高，血清载脂蛋白B和载脂蛋白A-I也相应增加。这种高脂血症是由于低密度脂蛋白（LDL）和高密度脂蛋白（HDL）浓度选择性升高所致。R.U.的HDL2胆固醇和HDL3胆固醇均升高，R.R.仅HDL3胆固醇升高。R.U.的极低密度脂蛋白（VLDL）浓度降低，R.R.的VLDL浓度正常。血浆脂蛋白电泳图谱不符合弗雷德里克森分类中的任何一种表型。患者及其家庭成员不同脂蛋白组分的组成正常。R.R.的血清游离脂肪酸（FFA）水平非常低。两名患者均证实血浆蛋白组分增加，尤其是转运组分增加。讨论了这些患者高胆固醇血症可能的病理生理学。与其他报道的病例不同，这些患者没有动脉粥样硬化并发症的临床体征。
