Children with preventable heart disease being missed through gaps in care

by University of Western Australia

edited by Sadie Harley, reviewed by Andrew Zinin

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A new report has revealed critical gaps in the care of Australian children with a preventable pediatric disorder that can lead to premature cardiovascular disease (CVD). Familial hypercholesterolemia (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% of affected men and 20% of women suffering a heart attack by age 50.

Clinical professor Andrew Martin, from The University of Western Australia Medical School and Perth Children's Hospital, said FH was a treatable pediatric disorder, with treatment ideally starting between ages 6 and 10.

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

Led by Martin and published in Archives of Disease in Childhood, the first report of the Australian National FH Registry for children under 18 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 identified, on average, until just under age 12.
• Fewer than half the children who are being treated are reaching the recommended reduction in LDL-C.
• Underuse of genetic testing to detect the disorder, with only 52.6% of children on the register having been tested.
• Infrequent cascade testing of other family members of people with FH, with fewer than half of the children on the register identified this way.

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 pediatric 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 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. Its report pointed 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 Martin," Watts said.

Publication details

Andrew C Martin et al, Paediatric familial hypercholesterolaemia in Australia: a real-world registry study, Archives of Disease in Childhood (2026). DOI: 10.1136/archdischild-2026-331003

Journal information: Archives of Disease in Childhood , British Medical Journal (BMJ)

Key medical concepts

Familial hypercholesterolemiaGenetic Testing

Clinical categories

CardiologyChildren's healthPediatricsClinical geneticsCommon illnesses & Prevention Provided by University of Western Australia Who's behind this story?

Sadie Harley

BSc Life Sciences & Ecology. Microbiology lab background with pharmaceutical news experience in oil, gas, and renewable industries. Full profile →

Andrew Zinin

Master's in physics with research experience. Long-time science news enthusiast. Plays key role in Science X's editorial success. Full profile →

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