Portuguese Familial Hypercholesterolemia Study: presentation of the study and preliminary results

• Autor(a) principal: Bourbon, M.
• Data de Publicação: 2006
• Outros Autores: Rato, Q., Investigadores do Estudo Português de Hipercolesterolemia Familiar
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10400.18/325
• topic: Familial hypercholesterolemia; Genetic diagnosis; Low-density lipoprotein receptor; Mutation; Coronary heart disease; Index case; Doenças Cardio e Cérebro-vasculares

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.