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|Titolo:||Diagnostic and clinical aspects of children affected by primary dyslipidemia.|
|Autori interni:||ABELLO, Francesca |
|Autori:||Abello F.; Baracco V.; Guardamagna O.|
|Data di pubblicazione:||2008|
|Abstract:||Objective: Dyslipidemia is one of the leading causes of death and cardiovascular morbidity in western countries. Some of these genetic disorders can be diagnosed in childhood through the evaluation of lipoprotein profile and DNA testing. Guidelines suggest the utility of an early selective screening in children/adolescents with a family history of dyslipidemia and/or premature cardiovascular disease. Aim of this study was to carry out the definite diagnosis of primitive lipoprotein disorders in children/adolescents who had been referred to our Lipid Clinic. Methods: we studied 288 children (age 10 ± 3.37 years) with a family history of dyslipidemia and/or premature cardiovascular disease. On the basis of the first level investigation (TC, HDL-C, triglycerides) results, subjects were divided in 3 phenotype groups including IIa, IIb, IV and a further hypocholesterolemia group. Subsequently second level (apoB and apoA-I) and third level (Lipoprotein(a), ApoE gene polymorphism, DNA-based test and phytosterols dosage) investigations were performed. Results: on the basis of the first level analysis, patients were so divided: 76.7% IIa, 15.3% IIb, 6.9% IV, 1% hypocholesterolemia. We reached a definite diagnosis of primitive dyslipidemia in 95% of tested patients through second and third level investigations. 30.9% children resulted affected by Familial Hypercholesterolemia (FH), 30.6% by Familial Combined Hyperlipidaemia (FCHL), 14.1% by dominant hypercholesterolemia, 13.9% by Hyperlipoproteinemia(a), 3.9% by Familial Hypertriglyceridemia (FHTG), 1% by Hypocholesterolemia due to mutations in ApoB and PCSK9 genes, 0.6% by Hyperchylomicronemia attributable to LPL and ApoC-II defects and 0.3% by Phytosterolemia. Conclusion: this study remarks the importance of an early diagnosis of primitive lipoprotein disorders. When the suspect of primary dyslipemia is supported by first level analysis it is advisable performing second and third level investigations in order to reach a definite diagnosis and check the cardiovascular risk. Combining the proband atherogenic profile and family history allow to establish an adequate and personalized treatment approach, based on lifestyle intervention and, if needed, dietary supplements and drugs since childhood/adolescence.|
|Nome del convegno:||XXII Congresso Nazionale SISA|
|Luogo del convegno:||Roma|
|Anno del convegno:||19-22 novembre 2008|
|Rivista:||NMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES|
|Appare nelle tipologie:||04B-Contributo in Atti di Convegno in rivista|
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