Dr Andrew Martin is a general paediatrician at Perth Children’s Hospital. Andrew has made major contributions to paediatric FH within Australia. He led the publication of the first national guidelines for paediatric FH in 2012 and established a clinical service for paediatric FH in Western Australia (WA). In recent years he has focussed his efforts on developing better approaches to detect FH in children, specifically innovative models of population screening in early childhood.

FH is the most common and serious cause of inherited high cholesterol.

There are more than 20,000 children living with FH in Australia and 3 children born with FH every day. Unfortunately, more than 95% of these children with FH are unaware they have the disorder, placing them at significantly higher risk of an early heart attack, with 50% of males suffering a coronary event by 50 years, and 30% of females by 60 years.

However, it does not have to be this way. FH is a treatable paediatric disorder and by detecting and treating FH from childhood, coronary artery disease is preventable and individuals with FH can expect to have a normal life expectancy. National guidelines for the diagnosis and management of paediatric FH are available.

“FH in Kids” (Finding and Treating FH in Young Kindreds) is a Perth Children’s Hospital Foundation and Telethon funded project, that aims to improve the detection of FH in children in WA, from 2.5% up to 25%, over the next 3 years. The project aims to provide support and education that will facilitate GPs to undertake genetic cascade testing of index cases, utilizing the available MBS item to improve the detection of FH within families, including children from 5 years.

Diagnosing and treating FH from childhood is an exemplar for preventative medicine. We owe it to all children with FH to diagnose them early and offer treatment that will allow them to live long and meaningful lives. The time is now!