Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/379
Título: Correlation between lipid profile / cardiovascular risk and type of mutation in Portuguese patients with familial hypercholesterolemia
Autor: Alves, A.C.
Medeiros, A.M.
Bourbon, M.
Palavras-chave: Doenças Cardio e Cérebro-vasculares
Data: Mai-2011
Editora: Instituto Nacional de Saúde Doutor Ricardo Jorge, IP
Resumo: Familial Hypercholesterolemia (FH) is characterized by high levels of LDLc in plasma, accelerated atherosclerosis and increased risk of premature coronary heart disease. FH results from mutations in three genes involved in lipid metabolism: LDLR, APOB, PCSK9. It is known that FH patients’ phenotype is heterogeneous varying with different conditions. The aim of this study was to analyse the biochemical profile of patients with genetically diagnosed FH in accordance with the mutations in different genes and the different types of mutations identified in the LDLR gene to identify whether there is a correlation between these variables in Portuguese patients. Biochemical parameters, total cholesterol (TC), LDLc, HDLc, triglycerides, ApoB and ApoA of 325 patients with FH were analyzed by SPSS using ANOVA and Tukey. Patients with mutations in the PCSK9 have LDLc and TC levels significantly higher than patients with mutations in the remaining two genes. There is no significant difference in these parameters between patients with mutations in LDLR and APOB genes, although all values are higher in patients with mutations in the LDLR. Patients with nonsense mutations in the LDLR gene present values of TC, LDL and ApoB statistically higher than in patients with missense mutations. The comparison between the other categories showed no significant changes in biochemical parameters. Patients with mutations in the PCSK9 have a more severe phenotype than patients with mutations in LDLR and APOB genes. The type of mutation (in different genes or different mutations in LDLR) is important in determining cardiovascular risk in FH patients.
URI: http://hdl.handle.net/10400.18/379
Aparece nas colecções:DPSPDNT - Posters/abstracts em congressos internacionais

Ficheiros deste registo:
Ficheiro Descrição TamanhoFormato 
Correlation between lipid profile cardiovascular.pdf1,02 MBAdobe PDFVer/Abrir

FacebookTwitterDeliciousLinkedInDiggGoogle BookmarksMySpace
Formato BibTex MendeleyEndnote Degois 

Todos os registos no repositório estão protegidos por leis de copyright, com todos os direitos reservados.