Healthcare (Commonwealth Union) – Heart disease has accounted as the leading cause of death across most parts of the world. In recent year the number of heart attacks among individual below the age of 50 has caused deep concern among health officials.
In Australia a new report has highlighted significant shortcomings in the care provided to local children with a preventable childhood condition that can increase their risk of developing cardiovascular disease (CVD) at an early age.
Familial hypercholesterolaemia (FH) is a common inherited disorder that affects the body’s ability to regulate low-density lipoprotein cholesterol (LDL-C) from birth. The condition substantially raises the likelihood of developing heart disease and experiencing a heart attack prematurely in adulthood.
Approximately one in every 250 Australians is affected by FH, representing around 100,000 adults and 20,000 children. An estimated three children are born with the condition in Australia each day.
Without early diagnosis and appropriate treatment, people with FH face a 20-fold higher risk of premature cardiovascular disease. By the age of 50, around 50 per cent of men and 20 per cent of women with the condition are expected to have experienced a heart attack.
Clinical Professor Andrew Martin of The University of Western Australia Medical School and Perth Children’s Hospital said familial hypercholesterolaemia (FH) was a treatable condition that should ideally be managed from between six and 10 years of age.
Associate Professor Martin indicated that identifying and treating the condition during childhood can entirely prevent premature cardiovascular disease (CVD). However, our findings indicate that significant opportunities for early intervention are being missed.
The study, led by Associate Professor Martin and published in Archives of Disease in Childhood, a journal of the British Medical Journal (BMJ), is the first report from the Australian National FH Registry focusing on children under the age of 18. It identified four major shortcomings in the care provided to Australian children living with the condition.
The report found a number of gaps in the diagnosis and treatment of children with FH, including delays in diagnosis, with children diagnosed at an average age of nearly 12 years old, which is later than the recommended age to begin treatment. Less than half of the children treated achieved the recommended reduction in low density lipoprotein cholesterol (LDL-C). Genetic testing was also underutilised, with only 52.6 per cent of children on the register being tested. Moreover, apart from the limited cascade testing to identify the condition in family members of affected individuals, less than half of the registered children were identified through this method.
The findings pointed to the need for a coordinated national strategy to improve the detection and management of FH in children, Associate Professor Martin said.
He has called for Australia to have a national policy framework to support universal childhood screening for FH and state-based hubs for cascade testing and consistent implementation of evidence-based paediatric care guidelines.
“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 The University of Western Australia (UWA) and Senior Consultant Physician at Royal Perth Hospital, said the registry had, for the first time, identified shortcomings in the care of familial hypercholesterolaemia (FH), a major inherited risk factor for heart disease that can affect children from an early age. He added that the report had also outlined practical measures to address these deficiencies.
Professor Watts indicated that the state of Western Australia is setting an example in the management of childhood FH, with valuable insights emerging from the high-quality service being developed at Perth Children’s Hospital under the leadership of Associate Professor Martin.
Established in 2015, the national registry is based at UWA and administered by Dr Jing Pang of the university’s Medical School.
