Screening
Screening of the general population is not recommended, but it may be appropriate in asymptomatic groups at increased risk of developing interstitial lung disease (ILD).
High-resolution computed tomography (HRCT)
People in the early stages of ILD may have interstitial lung abnormalities (ILAs) on HRCT that can be detected incidentally during routine imaging for other disorders.[50] ILAs typically appear in patients without obvious symptoms of ILD as non-dependent bilateral parenchymal abnormalities that involve at least 5% of a lung zone on HRCT (e.g., ground-glass opacities or reticulations, lung distortion, traction bronchiectasis, and/or honeycombing).[50]
The American Thoracic Society (ATS) recommends screening with a chest HRCT for ILAs and ILDs in at risk patient groups:
Smokers undergoing lung cancer screening with a chest HRCT scan.
Adults with connective tissue diseases associated with an increased risk of ILD (e.g., rheumatoid arthritis, systemic sclerosis, polymyositis, dermatomyositis, antisynthetase syndrome, mixed connective tissue disease, Sjogren’s disease, or overlap syndrome).
Adults aged 50 years and older who have a first-degree relative with familial pulmonary fibrosis (FPF; i.e., a patient with at least two genetically related first- or second-degree relatives with fibrotic ILD; no recommendation is given for patients with a first-degree relative with idiopathic pulmonary fibrosis (IPF) and no other known family members with ILD).
It is hoped that the early identification of ILAs using HRCT can improve outcomes in otherwise asymptomatic people at risk of ILDs.[50]
Genetic sequencing
The European Respiratory Society (ERS) recommends genetic sequencing in accordance with national directives or legislation in any patient with the following history:[16]
Fibrotic ILD and at least one first- or second-degree family member with fibrotic ILD
A relative carrying a pathogenic/likely pathogenic variant known to cause ILD
Suspected short telomere syndrome
An idiopathic fibrosing ILD that presents before age 50 years
Because the results of genetic sequencing have psychological, social, and financial consequences, asymptomatic relatives are not usually tested before they can make informed decisions (e.g., aged >18 years).[16] Telomere- and surfactant-related genes are usually analysed, but targeted genetic sequencing of other genes is discussed on a case-by-case basis and is not included routinely in the genetic diagnostic work-up. In families with proven monogenic disease, genetic sequencing should be offered based on national guidance.
Clinical screening and follow-up in asymptomatic first-degree family members may include:[16]
Periodic clinical evaluation for early ILD identification
Chest HRCT and lung function tests when experiencing persistent dyspnoea or cough
Full blood count and hepatic enzyme evaluation (where the relative has short telomere syndrome)
Recommending the avoidance of all known risk factors for pulmonary fibrosis (e.g., smoking and other inhalational exposures)
The ATS recommends against MUC5B testing (for promoter variant rs35705950) or telomere length measurement before more definitive chest HRCT screening for ILAs or ILD in adults aged 50 years or older who have a first-degree relative with pulmonary fibrosis (regardless of whether the first-degree relative has FPF or IPF and no other family members with ILD).
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