Familial Hypercholesterolaemia in Children: Insights from Dr Andrew Martin

In this episode of The Good GP, host Rebecca Goadby interviews Dr Andrew Martin, a consultant paediatrician at Perth Children's Hospital and an expert in paediatric lipid disorders. Dr Martin has led a paediatric lipid disorders clinic for the past 15 years, specialising in the detection and management of children and adolescents with familial hypercholesterolemia (FH) to prevent coronary artery disease.

Dr Martin explains what FH is and discusses its prevalence in children. Sharing that around 20,000 children under the age of 16 are affected by FH in Australia, and emphasises the genetic nature of this condition, highlighting its autosomal dominant inheritance pattern.

They then shift to the critical role GPs can play in diagnosing FH in children. He notes that most children are diagnosed following the identification of an adult index case in their family and underscores the importance of cascade genetic testing, which GPs can facilitate using a Medicare Benefits Schedule (MBS) item number.

Elaborating on the management strategies for FH in children, starting with heart-healthy lifestyle changes and progressing to pharmacological interventions, primarily statins, from the ages of 8 to 10. He highlights that early intervention with statins can significantly reduce the risk of future coronary events.

Additionally, Dr Martin describes the forthcoming launch of FH Australia, a national peak body aimed at supporting individuals and families with FH. Explaining that this organisation will provide resources, education, and advocacy, serving as a valuable resource for both patients and healthcare professionals.

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