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Comparison of the effect of two low-density lipoprotein receptor class mutations on coronary heart disease among French-Canadian patients heterozygous for familial hypercholesterolaemia

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The aim of this study was to compare the age at first elective coronary angiogram and the age at first revascularization (coronary artery bypass grafting or percutaneous transluminal coronary angioplasty) in 102 patients without familial hypercholesterolaemia (FH), who were matched for age and sex with 76 heterozygous FH patients carrying a defective allele at the low‐density lipoprotein (LDL) receptor gene (LDL‐R) and 26 heterozygous FH patients bearing a null mutation at the LDL‐R. The prevalence of diabetes was significantly higher in the non‐FH group than in the two FH groups (P  < 0.05). Furthermore, mean body mass index (BMI) and waist circumference values were also higher in the non‐FH group than in the two FH heterozygous groups (P  < 0.005). However, FH patients who were null allele carriers had the highest plasma total and LDL‐cholesterol levels and the highest cholesterol/HDL‐cholesterol ratio, whereas the defective allele carriers group had intermediate levels between null allele carriers and non‐FH patients. Comparison of the age at first coronary angiography revealed that the null allele carriers group were younger at first angiogram than the non‐FH patients (P  < 0.005). In addition, a trend was observed for a younger age at first angiogram in FH heterozygotes bearing a null allele than in carriers of a defective allele (P  = 0.06). Moreover, null allele carriers were younger at first revascularization than defective allele carriers (P  < 0.005) or non‐FH patients (P  < 0.005). Finally, the mean number of diseased vessels with > 50% stenosis was higher in null allele carriers than in non‐FH patients and tended to be higher than among defective allele carriers (P  < 0.01). Although no difference in plasma Lp(a) levels were noted between null allele carrier and non‐FH patients, plasma Lp(a) concentrations were higher in the defective allele group than in the other two groups. In summary, the development of coronary artery disease as estimated by the age at first elective coronary angiography or at first revascularization is premature in FH patients carrying a null mutation compared with defective allele carriers or with non‐FH patients. Moreover, the higher number of stenosed vessels among null allele carriers suggests that coronary artery disease was more severe in FH subjects with a null allele at the LDL‐R locus.
European journal of clinical investigation, Vol. 27 (5), 366-373 (1997)
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Coronary artery disease , Familial hypercholesterolaemia , LDL‐receptor gene mutations
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