Novel LDLR variants in Iberoamerica: preliminary molecular results of familial hypercholesterolaemia in Iberoamerica

Azevedo, S.; Bañares, V.; Schreier, L.; Vázquez, A.; Medeiros, A.M.; Alves, A.C.; Bourbon, Mafalda

http://hdl.handle.net/10400.18/3370

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Abstract(s)

Familial Hypercholesterolaemia (FH) is an autosomal dominant disorder with increased cardiovascular risk, due to high levels of cholesterol in blood since birth. The study of the molecular basis of FH in Iberoamerican countries, which have an historical link, can contribute for phenotype/genotype clarification and improve patient prognosis. One of the aims of the recently formed Iberoamerica Familial Hypercholesterolaemia Network is to promote these studies. The aim of the present study is to promote, at early age, an accurate identification and diagnosis of FH in Iberoamerican countries, so preventive measures and if necessary yearly treatment, can be implemented in order to give these patients a longer and better life.