Looks Like FH But it’s not FH: Extended Lipid Profile of Paediatric Clinical FH Patients Reveals a Different Lipid Profile in FH Negative Patients

• Autor(es): Medeiros, A.M. ; Aguiar, P. ; Bourbon, Mafalda
• Data: 2016
• Identificador Persistente: http://hdl.handle.net/10400.18/3850
• Origem: Repositório Científico do Instituto Nacional de Saúde
• Assunto(s): Doenças Cardio e Cérebro-vasculares; Familial Hypercholesterolemia
• Tipo de Documento: Objeto de conferência
• Idioma: Inglês
• Contribuidor(es): Repositório Científico do Instituto Nacional de Saúde

Descrição

Aim: Familial Hypercholesterolemia (FH) is a common autosomal dominant disorder, caused by mutations in genes involved in cholesterol’s clearance (LDLR, APOB, PCSK 9). Clinical diagnosis is usually based on high total cholesterol or LDL-C levels and family history of premature coronary heart disease. Using an extended lipid profile of paediatric dyslipidemic patients, we aim to identify biomarkers for a better diagnosis of FH in clinical settings.