BIOCHEMICAL-DIAGNOSIS OF HEREDITARY HYPERLIPOPROTEINEMIAS

Aim. To specify characteristics of lipoproteins (LPs) metabolism in pa tients with diverse forms of hereditary hyperlipoproteinemia (HLP) and determine biochemical tests for their differential diagnosis. Materia ls and methods. According to the criteria of polygenic hypercholestero lemia (PHCE), family combined hyperlipidemia (FCHL), family hypertrigl yceridemia (FHTG) and family hypercholesterolemia (FHCE), 157 patients were selected aged 7 to 70 years of 192 examinees (76 patients with p rimary HLP and 116 their close relatives). Lipids were measured by enz yme methods, apoproteins (apo) - by immunoturbidimetry and immune diff usion. Results. Compared to healthy subjects, PHCE patients were chara cterized by higher apoB level and proportion cholesterol (CS)/apoB in very low and low density lipoproteins (VLDL and LDL). In unchanged lev el of high density lipoprotein (HDL) CS and proportion HDLP CS/apoAl t here were reduced quantities of free HDLP CS, HDLP2 CS and apoAl. In F HCE 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 fr om healthy subjects by diminished HDL parameters: lower HDL CS due to free CS and its esters, apoAl and proportion HDL Cs/apoA. There were n o differences with controls by content of apoB and proportion CS(VLDLLDL)/apoB, apoB levels in different class lipoproteins. Conclusion. Bi ochemical parameters are proposed which can differentiate various form s of hereditary hyperlipoproteinemia.