Tvorogova M G, Rozhkova T A, Alidzhanova Kh G, Semenova O A, Sobolev A V, Kukharchuk V V, Titov V N
Ter Arkh. 1998;70(4):9-15.
To specify characteristics of lipoproteins (LPs) metabolism in patients with diverse forms of hereditary hyperlipoproteinemia (HLP) and determine biochemical tests for their differential diagnosis.
According to the criteria of polygenic hypercholesterolemia (PHCE), family combined hyperlipidemia (FCHL), family hypertriglyceridemia (FHTG) and family hypercholesterolemia (FHCE), 157 patients were selected aged 7 to 70 years of 192 examinees (76 patients with primary HLP and 116 their close relatives). Lipids were measured by enzyme methods, apoproteins (apo)--by immunoturbidimetry and immune diffusion.
Compared to healthy subjects, PHCE patients were characterized by higher apoB level and proportion cholesterol (CS)/apoB in very low and low density lipoproteins (VLDL and LDL). In unchanged level of high density lipoprotein (HDL) CS and proportion HDLP CS/apoA1 there were reduced quantities of free HDLP CS, HDLP2 CS and apoA1. In FHCE and FCHL there were also low levels of HDL CS in elevated ones of apoE in (VLDL + LDL). However, in FCHL, contrary to FHCE, the proportion SC (VLDP + LDL)/apoB was as in control group. FHTG patients differed from healthy subjects by diminished HDL parameters: lower HDL CS due to free CS and its esters, apoA1 and proportion HDL Cs/apoA. There were no differences with controls by content of apoB and proportion CS (VLDL + LDL)/apoB, apoE levels in different class lipoproteins.
Biochemical parameters are proposed which can differentiate various forms of hereditary hyperlipoproteinemia.
明确不同类型遗传性高脂蛋白血症（HLP）患者脂蛋白（LPs）代谢的特征，并确定用于其鉴别诊断的生化检测方法。
根据多基因高胆固醇血症（PHCE）、家族性混合性高脂血症（FCHL）、家族性高甘油三酯血症（FHTG）和家族性高胆固醇血症（FHCE）的标准，从192名受检者（76例原发性HLP患者及其116名近亲）中选取了157例年龄在7至70岁的患者。采用酶法测定血脂，用免疫比浊法和免疫扩散法测定载脂蛋白（apo）。
与健康受试者相比，PHCE患者的特征是载脂蛋白B水平较高，极低密度脂蛋白和低密度脂蛋白（VLDL和LDL）中的胆固醇（CS）/载脂蛋白B比例较高。在高密度脂蛋白（HDL）胆固醇水平不变以及HDL胆固醇/载脂蛋白A1比例不变的情况下，游离HDL胆固醇、HDL2胆固醇和载脂蛋白A1的量减少。在FHCE和FCHL中，（VLDL + LDL）中载脂蛋白E水平升高时HDL胆固醇水平也较低。然而，与FHCE相反，FCHL中SC（VLDP + LDL）/载脂蛋白B的比例与对照组相同。FHTG患者与健康受试者的不同之处在于HDL参数降低：由于游离胆固醇及其酯、载脂蛋白A1以及HDL胆固醇/载脂蛋白A比例降低，HDL胆固醇水平较低。不同类脂蛋白中的载脂蛋白B含量、CS（VLDL + LDL）/载脂蛋白B比例、载脂蛋白E水平与对照组无差异。
提出了可区分不同类型遗传性高脂蛋白血症的生化参数。
