Familial hypercholesterolemia (FH) is a well known genetic disorder that may cause atherosclerosis. The outcome is heterogeneous and strictly related to many risk factors. Aim of the study concerns the biochemical, molecular and ultrasonographic caracterization of a paediatric FH group. Methods. Among dyslipemic patients affering to our Lipid Clinic 49 FH children (10  3 yrs) underwent family history analysis to detect the cardiovascular disease (CAD) occurrence; the control group was representes by 35 patients (9.4  5.1 yrs). The biochemical phenotype was detected by standard methods (TC, LDL-C, Apolipoprotein B) and the LDL-R gene analysis by known primers. Furthermore all patients were submitted to B-mode high resolution ultrasonography employing 7.5-10 mHz probes (ALT Apogee 800 plus, USA) to evaluate the aorta (aIMT) and carotid intima-media thickness (cIMT). Results: Serum TC, LDL-C, ApoB (expressed in mg %) resulted 267  32, 194  34, 129  18 respectively in the CAD – group and 294  44, 215  41, 140  23 in the CAD + patient group. Furthermore the aIMT resulted 0.54  0.09 mm and 0.49  0.03 mm in patients and controls respectively and the cIMT was 0.46  0.02 vs 0.45  0.20 mm respectively in two groups. CAD was present in 33/49 cases (67 %) and occurred precociously in 47 % of all detected families. Concerning LDL-R genotype analysis, mutations were present in different domains, ranging from the EGF precursor (ex 7-14) (84%), and the ligand binding domain (10%) to the membrane anchoring and cytoplasmal domains. Furthermore four new mutations were detected. Conclusion: The present study results shows significant differences in italian paediatric FH patients. Furthermore finally the genotype show “private” mutations so any further discussion need to be more extensively examined. The IMT results an easy and useful method to detect any morphological vasa change but no difference appears between CAD + vs CAD – groups. Biochemical parameters undergo great differences and represent the main biochemical marker if combined whith family history in FH diagnosis and are related to CAD history.

The familial hypercholesterolemia in Italian children.

GUARDAMAGNA, Ornella
2005-01-01

Abstract

Familial hypercholesterolemia (FH) is a well known genetic disorder that may cause atherosclerosis. The outcome is heterogeneous and strictly related to many risk factors. Aim of the study concerns the biochemical, molecular and ultrasonographic caracterization of a paediatric FH group. Methods. Among dyslipemic patients affering to our Lipid Clinic 49 FH children (10  3 yrs) underwent family history analysis to detect the cardiovascular disease (CAD) occurrence; the control group was representes by 35 patients (9.4  5.1 yrs). The biochemical phenotype was detected by standard methods (TC, LDL-C, Apolipoprotein B) and the LDL-R gene analysis by known primers. Furthermore all patients were submitted to B-mode high resolution ultrasonography employing 7.5-10 mHz probes (ALT Apogee 800 plus, USA) to evaluate the aorta (aIMT) and carotid intima-media thickness (cIMT). Results: Serum TC, LDL-C, ApoB (expressed in mg %) resulted 267  32, 194  34, 129  18 respectively in the CAD – group and 294  44, 215  41, 140  23 in the CAD + patient group. Furthermore the aIMT resulted 0.54  0.09 mm and 0.49  0.03 mm in patients and controls respectively and the cIMT was 0.46  0.02 vs 0.45  0.20 mm respectively in two groups. CAD was present in 33/49 cases (67 %) and occurred precociously in 47 % of all detected families. Concerning LDL-R genotype analysis, mutations were present in different domains, ranging from the EGF precursor (ex 7-14) (84%), and the ligand binding domain (10%) to the membrane anchoring and cytoplasmal domains. Furthermore four new mutations were detected. Conclusion: The present study results shows significant differences in italian paediatric FH patients. Furthermore finally the genotype show “private” mutations so any further discussion need to be more extensively examined. The IMT results an easy and useful method to detect any morphological vasa change but no difference appears between CAD + vs CAD – groups. Biochemical parameters undergo great differences and represent the main biochemical marker if combined whith family history in FH diagnosis and are related to CAD history.
2005
75th Congress of the European Atherosclerosis Society
Prague
23-26 April 2005
6(1)
171
171
Familial hypercholesterolemia; LDL-C; ApoB; intima media thickness; diagnosis
Giachino P; Cuozzo M; Rabbone I; Rolfo E; Guardamagna O
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/122936
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