Children with preventable heart disease being missed through gaps in care

A new report has unveiled significant shortcomings in the care of Australian children living with familial hypercholesterolemia (FH), a genetic disorder that can result in early-onset cardiovascular disease. FH affects roughly one in 250 Australians, with around 20,000 children impacted. When left undetected and untreated, these individuals face a 20-times higher risk of premature CVD, with 50% of affected men and 20% of women experiencing a heart attack by age 50.

Clinical professor Andrew Martin of the University of Western Australia Medical School and Perth Children's Hospital emphasized that FH is a treatable pediatric disorder, with optimal treatment starting between the ages of 6 and 10. Unfortunately, a recent study in the Archives of Disease in Childhood revealed four critical gaps in care for Australian children with FH.

Martin's research, which led the creation of the first Australian National FH Registry for children under 18, found that diagnosis and management in childhood could completely prevent premature CVD, but important opportunities for early intervention are being missed. The study highlights the urgent need for a coordinated national response to enhance the detection and management of children with FH.

This includes a universal screening program for FH in childhood, state-based cascade testing hubs, and rigorous implementation of evidence-based pediatric guidelines. Without such a national framework, the majority of Australian children with FH will remain undiagnosed and untreated, missing a vital opportunity to prevent future CVD.