Familial hypercholesterolaemia: what’s new?

Paediatrics and Child Health（2019）

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摘要

Autosomal Dominant Familial Hypercholesterolaemia (FH) is the commonest inherited disorder of lipoprotein metabolism. Untreated monogenic FH caused by mutations in the LDLR, APOB or PCSK9 genes result in early onset cardiovascular death (below the age of 60 years). In the UK the prevalence of heterozygous FH is 1 in 270 and homozygous FH is 160,000 approximately.

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关键词

cascade screening,child-parent screening,children,familial hypercholesterolaemia,management of FH,safety of statins,statins

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