Background: Atherosclerosis is a vascular degenerative disorder occurring since paediatric age. The leading feature of a preclinical diagnosis as been recently underlined by the usefulness of ultrasonographic measurement of intimal-media thickness, both in aorta (aIMT) and carotid (cIMT) arteries. Moreover biochemical and genetical markers strongly contribute to the detection of at risk children. Aim of the study is to investigate of the apolipoprotein E (ApoE) genotype and the serum Lp(a) to characterize dyslipemic children. Methods: Among 150 children affering to our lipid Clinic 111 dislipidemic children (9.4 ± 3.7yrs) and 35 controls (9.7 ± 5.4 yrs) were examined. All were clinically healthy and secondary dislipidemias were excluded. Patients were submitted to lipoprotein profile by standard methods (TC, LDL-C, ApoB and Lp(a)) and to the ApoE genotype analysis by pyrosequencing on PSQ96MA (Uppsala, Sweden) on SNPmove. To detect the aIMT and cIMT an ultrasonographic B-mode high resolution system was employed (ALT Apogee 800 plus, USA). Results: the TC, Tg, LDL-C and ApoB (mean values in mg%) were all significantly different in controls vs dyslipemic children and three groups were detected on the basis of diagnosis: 1. Familial Hypercholesterolemia (FH), 2. Familial Combined Hyperlipidemia (FCHL) and 3. Other dislipemic disorders. About the familial background, cardiovascular disease (CAD) was more prevalent among FH(67%) and FCHL (72%) patients vs. other dislipemic group (36%). Lp(a) median resulted in group 1, 2 and 3 respectively 17, 12 and 20 vs 6 mg% in control subjects. Concerning the ApoE ε4 allele distribution, resulted 9,5% in the general population, it was comprised between 15-26% in the present subset. The aIMT was significantly increased in the FH and FCHL groups showing a CAD+ familial hystory while the other measurements were in the upper value range. In conclusion the apo ε4 allele is mainly represented in familial CAD+ vs CAD- paediatric patients while Lp(a) does not shows any significant correlation but a broaden spectrum. Furthermore aIMT is confirmed a preclinical useful marker of atherosclerosis since paediatric age. Finally these results underly that is mandatory to detect any atherogenic risk factor when children, belonging to an affected kindred, show lipoprotein increased levels.
The diagnosis of inherited dislipidemias in children.
GUARDAMAGNA, Ornella
2005-01-01
Abstract
Background: Atherosclerosis is a vascular degenerative disorder occurring since paediatric age. The leading feature of a preclinical diagnosis as been recently underlined by the usefulness of ultrasonographic measurement of intimal-media thickness, both in aorta (aIMT) and carotid (cIMT) arteries. Moreover biochemical and genetical markers strongly contribute to the detection of at risk children. Aim of the study is to investigate of the apolipoprotein E (ApoE) genotype and the serum Lp(a) to characterize dyslipemic children. Methods: Among 150 children affering to our lipid Clinic 111 dislipidemic children (9.4 ± 3.7yrs) and 35 controls (9.7 ± 5.4 yrs) were examined. All were clinically healthy and secondary dislipidemias were excluded. Patients were submitted to lipoprotein profile by standard methods (TC, LDL-C, ApoB and Lp(a)) and to the ApoE genotype analysis by pyrosequencing on PSQ96MA (Uppsala, Sweden) on SNPmove. To detect the aIMT and cIMT an ultrasonographic B-mode high resolution system was employed (ALT Apogee 800 plus, USA). Results: the TC, Tg, LDL-C and ApoB (mean values in mg%) were all significantly different in controls vs dyslipemic children and three groups were detected on the basis of diagnosis: 1. Familial Hypercholesterolemia (FH), 2. Familial Combined Hyperlipidemia (FCHL) and 3. Other dislipemic disorders. About the familial background, cardiovascular disease (CAD) was more prevalent among FH(67%) and FCHL (72%) patients vs. other dislipemic group (36%). Lp(a) median resulted in group 1, 2 and 3 respectively 17, 12 and 20 vs 6 mg% in control subjects. Concerning the ApoE ε4 allele distribution, resulted 9,5% in the general population, it was comprised between 15-26% in the present subset. The aIMT was significantly increased in the FH and FCHL groups showing a CAD+ familial hystory while the other measurements were in the upper value range. In conclusion the apo ε4 allele is mainly represented in familial CAD+ vs CAD- paediatric patients while Lp(a) does not shows any significant correlation but a broaden spectrum. Furthermore aIMT is confirmed a preclinical useful marker of atherosclerosis since paediatric age. Finally these results underly that is mandatory to detect any atherogenic risk factor when children, belonging to an affected kindred, show lipoprotein increased levels.
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
