Familial Interstitial Lung Disease
Familial interstitial lung disease — also known as familial pulmonary fibrosis — refers to ILD or pulmonary fibrosis occurring in two or more members of the same family. It can be associated with inherited gene variants — including variants in telomere-related genes — though not every family has an identifiable genetic cause. Dr Mackintosh founded and chairs the Australasian ILD Genetics Multidisciplinary Meeting, a national forum providing expert diagnostic and management advice for complex or familial cases.
Genetic assessment
Where a familial pattern is identified, assessment may include a detailed pedigree, review of imaging across affected relatives, and consideration of genetic testing — most often for telomere-related genes (see telomere biology disorders), and less commonly for surfactant-related or other fibrosis genes. Dr Mackintosh co-authored a Lung Foundation Australia patient fact sheet on the role of genetics in pulmonary fibrosis.
Complex or ambiguous familial cases can be presented at the Australasian ILD Genetics Multidisciplinary Meeting, which brings together clinicians from across Australia and New Zealand with specific expertise in the genetic aspects of ILD.
Screening at-risk relatives
Research led by Dr Mackintosh's collaborators has shown that some relatives of people with familial pulmonary fibrosis have early, preclinical interstitial lung abnormalities before symptoms develop. Whether and how to screen relatives is an individual decision, weighing family history, any identified gene variant, and the relative's own risk factors and preferences, and is best discussed as part of specialist assessment.
Frequently asked questions
What counts as familial pulmonary fibrosis?
Familial pulmonary fibrosis is generally defined as pulmonary fibrosis occurring in two or more members of the same family (biological relatives). It can be linked to variants in telomere-related genes or other genes involved in lung tissue repair, though a specific gene variant is not identified in every family.
Should relatives of someone with familial pulmonary fibrosis be screened?
This is decided on a case-by-case basis, taking into account the family history, any identified gene variant, and the relative's own symptoms and risk factors. Research has shown that some at-risk relatives have early, preclinical changes on imaging or lung function testing.
Does genetic testing change management?
Genetic testing can help confirm a diagnosis, inform monitoring of relatives, and in some cases influence treatment choices. Testing is usually arranged and interpreted in the context of specialist and, where needed, clinical genetics review.
For referring clinicians
Dr Mackintosh welcomes referrals for patients and families with suspected familial pulmonary fibrosis, including cases suitable for discussion at the Australasian ILD Genetics MDM.
Related
Telomere biology disorders — the genetic subset of familial pulmonary fibrosis linked to short telomere syndromes.
See the CRE-PF fact sheet on the role of genetics in pulmonary fibrosis for patients and families.