Study Of Apolipoprotein In Differential Diagnosis Of Familial Hypercholesterolemia And The Relationship With Coronary Heart Disease In Their Family Members

Objective: To analyze the lipid levels and renal function index between familial hypercholesterolemia(FH)and familial combined hyperlipidemia(FCHL)family members, and analyze the correlation of lipid profiles and coronary heart disease in FH family members, investigate which index may be used in the differential diagnosis between FH and FCHL. and the correlation of apolipoprotein and the onset of coronary heart disease(CHD) in FH family membersMethods: The dyslipidemia and the healthy check-up crowd who came to the first hospital of Lanzhou University and their family members were recruited, then the family counseling, medical history collection, physical examination and questionnaire were carryed out and the objects were extracted venous blood for laboratory testing, the FH、FCHL and normal control pedigrees which meet the diagnosis criteria respectively were recruited. First, the objects were divided into affected groups and non-affected groups in FH pedigrees and FCHL pedigrees, analyzed the lipid levels(TC, TG, HDL- C, LDL – C, Apo AⅠ, Apo B, Apo AⅠ/ Apo B, Lp(a))and renal function indexes(CO2CP, BUN, Cr BUN/Cr, UA)between groups. Second, We selected 6 FH pedigrees which meet the diagnosis criteria of FH, and 30 members were recruited in this study. all objects were divided into three groups: normal group(n = 12), high cholesterol group(n = 10) and CHD group(n = 8). The lipid levels were compared between groups, and the correlation and the predictive value of lipid profiles to the onset of CHD were investigated between the indicators and the onset of CHD.Results:1. Lipid levels of groups in FH、FCHL and control pedigreesThe TC, HDL- C, LDL – C and Apo B in the affected group of FH pedigrees were significantly higher than that in the control group(P<0.01),the TG and Lp(a) were also higher(P<0.05) and the Apo AⅠ/Apo B was significantly lower(P<0.01). The TC、TG、HDL-C、LDL-C and Apo B in the affected group of FCHL pedigrees were significantly higher than that in the control group(P<0.01),the Lp(a) was also higher(P<0.05) and the Apo AⅠ/Apo B was significantly lower(P<0.01).The TC、TG、HDL-C、LDL-C and Apo B in the affected group of FH pedigrees were significantly higher than that in the non-affected group(P<0.01),the Lp(a) was also higher(P<0.05) and the Apo AⅠ/Apo B was significantly lower(P<0.01). The TC、TG、LDL-C and Apo B in the affected group of FCHL pedigrees were significantly higher than that in the non-affected group(P<0.01),the HDL-C was also higher(P<0.05) and the Apo AⅠ/Apo B was significantly lower(P<0.01).The LDL-C and Apo B in the affected group of FH pedigrees were significantly higher than that in the affected group of FCHL pedigrees(P<0.01),the TC was also higher(P<0.05) and the Apo AⅠ/Apo B and TG were significantly lower(P<0.01).2. Renal function index levels of groups in FH、FCHL and control pedigreesThe BUN and Cr in the affected group of FH pedigrees were higher than that in the control group and the non-affected group of FH pedigrees(P<0.05), the BUN in the affected group of FCHL pedigrees was higher than that in the control group(P<0.05).3. Lipid levels of normal group, high cholesterol group and CHD group in FH pedigreesCompared with the normal group, the TC, LDL – C and Apo B in the high cholesterol group were significantly higher than that in the normal group(P<0.01), and the Apo B / Apo AⅠ was also higher(P<0.05). The TC, TG, LDL – C, Apo B and Apo B / Apo AⅠin the CHD group were significantly higher than that in the normal group(P<0.01), and the Lp(a) was also higher(P<0.05).Compared with the high cholesterol group, the TG and Apo B / Apo AⅠin the CHD group were significantly higher than that in the high cholesterol group(P<0.01), the LDL- C, Apo B and Lp(a) were also higher(P<0.05)and the Apo AⅠwas lower(P<0.05).4. The correlation of lipid profiles and the onset of CHD in FH pedigreesThe LDL-C, Apo B, Apo B/Apo AⅠand Lp(a) were positively correlated with the onset of CHD in FH pedigrees(r = 0.533, P < 0.05; r = 0.548, P < 0.01; r = 0.604, P < 0.01 and r = 0.527, P < 0.05).5. The predictive value of lipid profiles to the onset of CHDThe area under the ROC curve from big to small was Apo B/Apo AⅠ, LDL- C, Apo B and Lp(a), successively. The optimal cut-off point were 0.75, 4.90 mmol/L, 1.095 g/L and 240.50 mg/L, respectively.Conclusion: In addition to the commonly used index TC, TG and LDL–C, the levels of Apo B and the ratio of Apo AⅠ/Apo B were expected to become the index of differential diagnosis between FH and FCHL. The LDL-C, Apo B, Apo B/Apo AⅠand Lp(a) were positively correlated with the onset of CHD in FH pedigrees. Apo B/Apo AI has higher value than other lipid index in prediction of the onset of CHD for FH family members.