Children at risk of heart disease slipping through gaps in care

Familial hypercholesterolaemia (FH) is a common genetic disorder that affects how the body processes low-density lipoprotein-cholesterol (LDL-C) from birth.

It significantly increases the risk of heart disease and early heart attacks in adulthood.

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

If it goes undetected or untreated, those with the disorder have a 20-fold risk of premature cardiovascular disease. Around 50% of men and 20% of women experience a heart attack by the age of 50.

The first report of the Australian National FH Registry for children under 18 years, published in the British Medical Journal, has found four critical gaps in care for Australian children with the condition.

Ideally, treatment for children with the disorder should start between six and 10 years of age, but the research found many children with the condition were not being diagnosed until just under the age of 12.

Lead author Clinical Professor Dr Andrew Martin, from UWA’s Medical School and Perth Children’s Hospital, said FH was a treatable condition but needed to be diagnosed earlier.

He 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.”

The other three key findings include:

• fewer than half of children who are being treated for FH are reaching the recommended reduction in LDL-C
• under-utilisation 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, with fewer than half of children on the register identified this way.

Currently, most children with FH are identified through cascade screening following detection of a parent. Most adults with FH remain undiagnosed, so other opportunities to detect FH in childhood have been proposed.

A pilot study funded by the PCH Foundation and Telethon from 2018 to 2020 demonstrated that universal screening of children for FH at the time of an immunisation, with a point of care cholesterol level followed by reflex genetic testing, was feasible, acceptable and cost effective in WA.

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 FH registry had brought to light gaps in care around an important cause of inherited heart disease.

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

Earlier this year Dr Martin co-authored a clinical article on familial hypercholesterolaemia, how it is diagnosed and how it should be managed. You can read the article and tick off one hour of CPD here: Familial hypercholesterolaemia: A treatable paediatric disorder