家族性高甘油三酯血症家族谱分析

A Genealogical Analysis of Familial Hypertriglyceridemia

通过观察一例家族性高甘油三酯血症家族 19个成员血清状态 ,测定血清总胆固醇、甘油三酯和载脂蛋白AⅠ、AⅣ、B10 0及E ,发现此家族中双亲和兄弟姐妹中多人见有Ⅳ型高脂蛋白血症 ,血清呈混浊状 ,血清甘油三酯含量显著增高 ,胆固醇含量正常 ,高密度脂蛋白胆固醇含量降低。虽然载脂蛋白AⅠ、AⅣ和B10 0无明显变化 ,但载脂蛋白E含量明显增高 ,血清甘油三酯浓度与载脂蛋白E浓度呈正相关。从而认为载脂蛋白E代谢障碍可能是这例高甘油三酯血症家族发病的主要原因。

Aim To study a family of hypertriglyceridemia with the metabolism of the lipids and apolipoproteins. Results The results showed that several mumbers of the family suffer from the hypertriglyceridemia. The serum, from the patients of the hypertriglyceridemia which was laid up icebox over night was turbid observed by naked eye. The level of the total cholesterol (TC) in the serum was normal and the values of triglyceride (TG) increased and the level of the high density lipoprotein cholesterol decreased. Although the concentrations of the apolipoprotien AⅠ, AⅣ and B100 had no significantly change, the concentration of the apolipoprotein E (apo E) had raised. The concentration of serum TG is positively correlated with that of serum apo E. Conclusions The family was appointed as a family of type Ⅳ hypertriglyceridemia. Experiments have shown that apo E metabolic disturbance may be one of factors that lead to hypertriglyceridemia. The reason why the family members of this familial hypertriglyceridemia case have high frequency to suffer liver cancer and appendicitis requires further research.