
Dr Andrew Martin
Feasibility and acceptability of screening children for inherited hypercholesterolaemia
Clinician Research Fellowship
$206,698
2018 - 2021
Princess Margaret Hospital for Children
Dr Andrew Martin is a Paediatrician with the Department of General Paediatrics at the Princess Margaret Hospital for Children. He was awarded a Clinician Research Fellowship in 2019 to investigate better methods of early detection of familial hypercholesterolaemia (FH), for early intervention.
FH is the most common and serious cause of inherited high cholesterol, with an estimated 10,000 individuals affected in WA. Unfortunately FH remains largely undetected and untreated with more than 90% of individuals unaware they have FH. Untreated, 50% of male and 20% of females with FH will suffer a heart attack by 50 years, but those diagnosed and treated from childhood have a normal life expectancy.
The high prevalence of FH, high rates of undiagnosed children and fact that heart attacks in adult life can now be prevented with management in childhood, means that new approaches to detection are required.
In the current study, Dr Martin and his team aimed to investigate the feasibility, acceptability and cost-effectiveness of screening children aged 1-2 years for FH at the time of an immunisation. They demonstrated that such universal screening of children for FH was a feasible, efficacious and cost-effective approach to detect children, parents and other blood relatives with FH.
Diagnosing and treating children with FH will prevent heart attacks in early adult life. Screening parents allows the diagnosis and treatment of the affected parent to commence and benefits the child by preventing a premature heart attack or even sudden death of their parent. The proposed approach has the potential to prevent medical consequences of FH (i.e. heart attacks or sudden death in young adults) in two generations simultaneously.
The study has generated much interest, discussion and debate in the FH community (patients and health professionals) worldwide, with a swell of support for the concept of universal screening of children for FH that will ultimately improve the detection of all individuals with FH. Indeed, the first child and mother pair detected with FH in this study were interviewed together with Dr Andrew Martin, in a story on Channel 7 news (WA and national), on 7th June 2020.
No country has yet been able to implement a universal screening program for FH, but Dr Martin and his team are in a strong position to lead the worldwide introduction of this approach. In order to ensure that this research has the best opportunity of translating into changes in clinical practice and state and national policy, Dr Martin has teamed up with implementation scientists and is also awaiting the outcome of a MRFF grant application to continue this important work.
“Thank you for providing me with a fantastic opportunity to not only undertake this project and bring us a step closer to being able to offer child and child parent screening for FH to improve clinical outcomes for children and families in WA, but for the chance to have a dedicated focus on clinical research in a way that I have never before.”
Dr Andrew Martin