Familial hypercholesterolaemia (FH) is a common inherited disorder affecting approximately one in 250 individuals, leading to markedly elevated low-density lipoprotein cholesterol (LDL-C) levels and a substantially increased risk of premature atherosclerotic cardiovascular disease. Most cases remain undiagnosed until adulthood, when heart disease may already have occurred. Paediatric/ newborn screening offers an opportunity to identify FH early, enabling timely lifestyle interventions and, where appropriate, initiation of lipid-lowering therapy. This presentation will review early screening for FH, including different screening strategies and integration into existing screening programmes. Stakeholder attitudes, opportunities and challenges of early FH screening will be discussed. Early detection through newborn screening could transform FH management, shifting the focus from late diagnosis to lifelong prevention, however, it comes with unique challenges that need to be addressed prior to introduction into routine care.
Caroline Bachmeier (Sun,) studied this question.