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

Bourbon, M.; Rato, Q.; Investigadores do Estudo Português de Hipercolesterolemia Familiar

http://hdl.handle.net/10400.18/325

Use this identifier to reference this record.

Name:	Description:	Size:	Format:
Estudo Português de Hipercolesterolemia.pdf		108.95 KB	Adobe PDF	Download

Send Feedback

Authors

Bourbon, M.

Rato, Q.

Investigadores do Estudo Português de Hipercolesterolemia Familiar

Abstract(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.

Keywords

Familial hypercholesterolemia Genetic diagnosis Low-density lipoprotein receptor Mutation Coronary heart disease Index case Doenças Cardio e Cérebro-vasculares