Genetic Screening of Familial Hypercholesterolemia in Portugal

Medeiros, A.M.; Alves, A.C.; Bourbon, Mafalda

http://hdl.handle.net/10400.18/3376

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Autores

Medeiros, A.M.

Alves, A.C.

Bourbon, Mafalda

Resumo(s)

Purpose: Familial hypercholesterolemia (FH) is a common autosomal dominant disorder of lipid metabolism (1:500 frequency), caused by mutations in LDLR, APOB, PCSK9 genes. FH patients have high levels of plasma cholesterol since birth, accelerated atherosclerosis and, without treatment, increased risk of premature coronary heart disease (pCHD). WHO recommends universal screening of FH, since there is a definite/genetic diagnosis and pharmacological treatment that reduces patients’ cardiovascular risk. Portugal doesn’t have a national screening programme for FH but, in 1999, it was established the Portuguese FH Study (PFHS) that aims to determine prevalence/distribution of FH in Portugal in order to promote the early identification and characterization of FH patients and improve their prognosis.