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Título: Milder phenotype of relatives of index patients can misdiagnose Familial Hypercholesterolemia
Autor: Medeiros, A.M.
Alves, A.C.
Bourbon, M.
Palavras-chave: Doenças Cardio e Cérebro-vasculares
Issue Date: Jun-2011
Editora: Instituto Nacional de Saúde Doutor Ricardo Jorge, IP
Resumo: Familial Hypercholesterolemia (FH) is a genetic disorder characterized by high levels of LDLc in plasma, accelerated atherosclerosis and increased risk of premature coronary heart disease (pCHD). 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, as gene and type of mutation. The present study pretends to characterize the biochemical profile of FH patients genetically identified in Portugal. The Portuguese FH Study identified 420 patients: 182 index (60 children, 122 adults) and 238 relatives (56 children, 182 adults) with a genetic defect. Biochemical parameters (total cholesterol (TC), LDLc, HDLc, triglycerides, ApoB, ApoAI) were analyzed with SPSS software using ANOVA tests. TC and LDLc levels are statistically higher in index patients than in relatives identified in cascade screening: index children, TC=315.96±61.51mg/dl and LDLc=239.61±60.43mg/dl vs TC=277.52±66.40mg/dl and LDLc=209.05±53.44mg/dl for relatives children (p=0.002, p=0.014); index adults TC=369.56±78.94mg/dl and LDLc=287.72±78.93mg/dl vs TC=332.93±75.54mg/dl and LDLc=246.26±71.79mg/dl for relatives adults (p<0.001, p=0.001). Although CT and LDLc mean values are above FH criteria a considered number of relatives have both TC and LDLc bellow these values (16%). Only 40% of relatives adults genetically identified are in treatment and 13% have pCHD vs 79% of index adults in treatment and 25% have pCHD. Genetic diagnosis of FH in Portugal allows early identification of FH patients, in particular relatives with mild phenotype that would not be identified by clinical criteria alone, allowing early implementation of therapeutic measures that will reduce their cardiovascular risk.
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