Universal screening for familial hypercholesterolaemia in newborns Time for general practice to contribute

Abstract

FAMILIAL HYPERCHOLESTEROLAEMIA (FH), an autosomal dominant genetic condition, affects one in 250 people in Australia. FH is characterised by markedly elevated low-density lipoprotein cholesterol levels from birth, resulting in the accelerated onset of atherosclerotic cardiovascular disease (ASCVD) that would occur in middle years if left untreated.1 The risk of premature ASCVD in FH-positive adults aged 20–39 years is 100-fold greater than individuals without FH who are the same age.2 Effective treatment for FH is available, but 90% of individuals remain undiagnosed and therefore untreated.2 The biggest gaps exist among young people and in primary care.1,3,4 It is time for this situation to be substantially mitigated, and we, as general practitioners (GPs), need to play our part