Diagnosing and treating a child with familial hypercholesterolaemia will add 15 years to their life expectancy on average, according to the lead author of new Australian guidelines on the topic.

But the problem is finding cases — either paediatric or adult — and this is where Australian GPs can play a key role, says Professor Gerald Watts, from the University of WA, who chaired the guideline committee.

More than 100,000 Australians are estimated to have the autosomal dominant condition, which is more prevalent than Lynch syndrome and hereditary breast or ovarian cancer, but more than 90% of them remain undiagnosed, he says.

“In WA, for instance, we estimate there are about 3000 paediatric cases, but less than 200 have been diagnosed.”