A new report has revealed critical gaps in the care of Australian children with a preventable paediatric disorder that can lead to premature cardiovascular disease (CVD).

Familial hypercholesterolaemia (FH) is a common genetic disorder that affects how the body processes low-density lipoprotein-cholesterol (LDL-C) from birth and significantly increases the risk of heart disease and early heart attacks in adulthood.

It affects approximately one in 250 Australians – around 100,000 adults and 20,000 children – with three children born with FH in Australia every day.

When undetected and untreated, individuals with FH have a 20-fold risk of premature CVD, with 50 per cent of affected men and 20 per cent of women suffering a heart attack by the age of 50 years.

Clinical Professor Andrew Martin, from The University of Western Australia Medical School and Perth Children’s Hospital, said FH was a treatable paediatric disorder, with treatment ideally starting between six and 10 years of age.

“Diagnosis and management from childhood can completely prevent premature CVD, but our research shows we are missing important opportunities to intervene early,” Associate Professor Martin said.

Led by Associate Professor Martin and published in the British Medical Journal publication Archives of Disease in Childhood, the first report of the Australian National FH Registry for children under 18 years has revealed four critical gaps in care for Australian children with the condition.

The report found:   

• late diagnosis after the recommended age to start therapy, with children not being picked up, on average, until just under 12 years of age

• fewer than half the children who are being treated are reaching the recommended reduction in LDL-C

•  under-utilisation of genetic testing to detect the disorder, with only 52.6 per cent of children on the register having been tested; and

• infrequent cascade testing of other family members of people with FH, with fewer than half of the children on the register identified this way.

Associate Professor Martin said the study findings highlighted the need for a coordinated national response to improve the detection and management of children with FH.

“Australia requires a national policy position supporting a universal screening program for FH in childhood, coupled with state-based cascade testing hubs and rigorous implementation of evidence-based paediatric guidelines,” he said.

“Without a national universal screening program, the majority of Australian children with FH will remain undiagnosed and untreated – a missed opportunity to prevent future CVD.”

Report co-author Professor Gerald Watts, Winthrop Professor of Cardiometabolic and Internal Medicine at UWA and Senior Consultant Physician at Royal Perth Hospital, said the registry had brought to light for the first time gaps in care around an important cause of inherited heart disease, starting in the very young, with its report pointing to clear actions on how those gaps could be closed.

“WA is leading the way in care of FH in childhood, with many new lessons emanating from the excellent service being established at Perth Children’s Hospital, led by Associate Professor Martin,” Professor Watts said.

The national registry, based at UWA and managed by Dr Jing Pang from UWA’s Medical School, was established in 2015.

The new report was a collaboration between researchers from UWA, PCH, the Children’s Hospital at Westmead in New South Wales, The University of Sydney, Queensland Children’s Hospital, Women’s and Children’s Hospital Adelaide, Royal Prince Alfred Hospital in New South Wales, Monash University and Royal Perth Hospital.