Genetic and environmental factors in interstitial lung diseases: current and future perspectives on early diagnosis of high-risk cohorts

Abstract

Within the wide scope of interstitial lung diseases (ILDs), familial pulmonary fibrosis (FPF) is being increasingly recognized as a specific entity, with earlier onset, faster progression, and suboptimal responses to immunosuppression. FPF is linked to heritable pathogenic variants in telomere-related genes (TRGs), surfactant-related genes (SRGs), telomere shortening (TS), and early cellular senescence. Telomere abnormalities have also been identified in some sporadic cases of fibrotic ILD. Air pollution and other environmental exposures carry additive risk to genetic predisposition in pulmonary fibrosis. We provide a perspective on how these features impact on screening strategies for relatives of FPF patients, interstitial lung abnormalities, ILD multi-disciplinary team (MDT) discussion, and disparities and barriers to genomic testing. We also describe our experience with establishing a familial interstitial pneumonia (FIP) clinic and provide guidance on how to identify patients with telomere dysfunction who would benefit most from genomic testing.

Knowledge, attitude, and practice toward interstitial lung disease among patients: a cross-sectional study

“…Understanding and adhering to diagnostic practices, such as pulmonary function tests, high-resolution computed tomography scans, and bronchoscopy, can help confirm the diagnosis of ILD and assess disease severity ( 10 , 11 ). Positive attitude towards lifestyle modifications, such as smoking cessation and avoidance of environmental pollutants, can reduce the risk of respiratory infections, which further prevents the occurrence of ILD symptoms ( 12 ). Besides, active compliance to pharmacological interventions, including corticosteroids, immunosuppressive agents, and antifibrotic medications, may mitigate inflammation and fibrosis in the lungs ( 13 ).…”

Why making smoking cessation a priority for rare interstitial lung disease smokers?

“…Notably, cigarette smoking has emerged as a prominent modifiable risk factor implicated in the pathogenesis and progression of certain ILDs. The relationship between smoking and ILDs has gained considerable attention, supported by epidemiological observations, experimental studies, and clinical evidence suggesting tobacco exposure’s role in pulmonary fibrosis, bronchiolitis, and other interstitial lung disorders 2 .…”

Table_1.DOCX

“…Understanding and adhering to diagnostic practices, such as pulmonary function tests, high-resolution computed tomography scans, and bronchoscopy, can help confirm the diagnosis of ILD and assess disease severity (10,11). Positive attitude towards lifestyle modifications, such as smoking cessation and avoidance of environmental pollutants, can reduce the risk of respiratory infections, which further prevents the occurrence of ILD symptoms (12). Besides, active compliance to pharmacological interventions, including corticosteroids, immunosuppressive agents, and antifibrotic medications, may mitigate inflammation and fibrosis in the lungs (13).…”