[Biochemical diagnosis of hereditary hyperlipoproteinemias]

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.