Cascade screening for familial hypercholesterolaemia in Scotland

Abstract

The publication of the UK National Institute for Health and Clinical Excellence familial hypercholesterolaemia guideline led to a combined meeting of lipidologists and geneticists in Scotland. It was agreed to implement a system of cascade screening for familial heterozygous hypercholesterolaemia based on genetic testing to identify family members of known cases who have not previously been diagnosed and treated. The cascade screening system for familial heterozygous hypercholesterolaemia Scotland is described herein.