Genetic link found among relatives of pulmonary fibrosis patients by Sydney’s Royal Prince Alfred Hospital study

The study looked at 50 family members of patients who have the lung-scarring disease with no known cause.

After doing a series of scans and lung function tests, 30 per cent of the relatives tested were found to have early signs of lung fibrosis.

Royal Prince Alfred Hospital professor Tamera Corte led the investigation, which found 30 per cent of the family members of patients showed very early signs of the disease.

She said the findings could lead to earlier treatment of the disease.

“We can advise them on what to avoid and follow them and hopefully institute early therapy,” Corte said.

Researchers also found five new genetic variants that could help them understand why the disease develops.

Thirty per cent of all patients develop the condition with no known cause.

“I think the next stage is to look at how these genetic changes disrupt the function of lung cells to develop fibrosis,” Menzies Institute geneticist professor Jo Dickinson said.

“The next step after that is to develop drugs to target those genetic changes.”

There’s hope the genetic treatment will help extend the lives of patients like Trevor Allan, who was diagnosed with pulmonary fibrosis 10 years ago.

“Just getting down on the ground with my grandkids and having a play doing a jigsaw, I can’t do anymore because I can’t get up again,” the 72-year-old grandfather said.

“I was on the path to dying within two years… there was no treatment,” he said.

Allan takes two tablets a day to slow the disease down.

“It doesn’t cure it, it doesn’t restore any of my lung function.

“Unfortunately with mine, there’s no known cause it’s idiopathic.”