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http://hdl.handle.net/10400.18/5171| Title: | The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipidaemia and other causes |
| Author: | Mariano, C. Antunes, M. Medeiros, A.M. Alves, A.C. Futema, M. Humphries, S.E. Bourbon, Mafalda |
| Keywords: | Familial Hypercholesterolaemia Cardiovascular Risk Doenças Cardio e Cérebro-vasculares |
| Issue Date: | Oct-2017 |
| Publisher: | Instituto Nacional de Saúde Doutor Ricardo Jorge, IP |
| Abstract: | Familial hypercholesterolaemia (FH) is a monogenic autosomal condition where patients present very high LDL-C values and an increase cardiovascular risk. FH is caused by mutations in 3 genes: LDLR, APOB and PCSK9. However in only about 40%-50% of the cases an FH causing mutation is found. The FH phenotype has been associated recently to other monogenic disorders as lysosomal acid lipase deficiency or can have a polygenic origin. The aim of this work was to characterize the origin of FH phenotype in a cohort of patients with a clinical diagnosis of FH. |
| URI: | http://hdl.handle.net/10400.18/5171 |
| Appears in Collections: | DPSPDNT - Posters/abstracts em congressos internacionais |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| Poster_IBA_CMC.pdf | 982,09 kB | Adobe PDF | View/Open Request a copy |
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