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Portuguese Familial Hypercholesterolemia Study: presentation of the study and preliminary results
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Orientador(es)
Resumo(s)
Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder caused, in the majority of cases, by a partial or total lack of functional low density lipoprotein receptors (LDLR). Mutations in the LDLR gene lead to increased plasma cholesterol levels, resulting in cholesterol deposition in the arteries, thereby increasing the risk of premature coronary heart disease. The homozygous form of FH is rare but heterozygous FH is common, although underdiagnosed in many populations, including the Portuguese. In 1999 the Portuguese Familial Hypercholesterolemia Study was begun at the National Institute of Health.
Descrição
Palavras-chave
Familial hypercholesterolemia Genetic diagnosis Low-density lipoprotein receptor Mutation Coronary heart disease Index case Doenças Cardio e Cérebro-vasculares
Contexto Educativo
Citação
Rev Port Cardiol. 2006 Nov;25(11):999-1013.