Repositório Científico do Instituto Nacional de Saúde >
Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis >
DPSPDNT - Posters/abstracts em congressos internacionais >

Please use this identifier to cite or link to this item: http://hdl.handle.net/10400.18/379

Title: Correlation between lipid profile / cardiovascular risk and type of mutation in Portuguese patients with familial hypercholesterolemia
Authors: Alves, A.C.
Medeiros, A.M.
Bourbon, M.
Keywords: Doenças Cardio e Cérebro-vasculares
Issue Date: May-2011
Publisher: Instituto Nacional de Saúde Doutor Ricardo Jorge, IP
Abstract: 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
Appears in Collections:DPSPDNT - Posters/abstracts em congressos internacionais

Files in This Item:

File Description SizeFormat
Correlation between lipid profile cardiovascular.pdf1.02 MBAdobe PDFView/Open
Statistics
FacebookTwitterDeliciousLinkedInDiggGoogle BookmarksMySpaceOrkut
Formato BibTex mendeley Endnote Logotipo do DeGóis 

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

 

  © 2010 www.insa.pt - Todos os direitos reservados | Feedback Ministério da Saúde

Estamos no RCAAP Governo Português separator Ministério da Educação e Ciência   Fundação para a Ciência e a Tecnologia

Financiado por:

POS_C UE