Screening
Screening of the general population is not recommended.
Genetic sequencing
An international and multidisciplinary expert task force of the European Respiratory Society (ERS) recommends genetic sequencing in any patient, according to national directives or legislation, with:[16]
Fibrotic interstitial lung disease (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 psychologic, social, and financial consequences, asymptomatic relatives are not usually tested before they can make informed decisions (e.g., >18 years of age).[16]
Telomere- and surfactant-related genes are usually analyzed, but targeted genetic sequencing of other genes is discussed on a case-by-case basis and is not included routinely in the genetic diagnostic workup. 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
Should include:[16]
Periodic clinical evaluation for early ILD identification
Chest CT and lung function tests when experiencing persistent dyspnea or cough
Complete 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)
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