Patients with interstitial lung disease, including idiopathic pulmonary fibrosis (IPF), who have a surfactant-related gene (SRG) mutation experience progressive loss of lung function with reduced survival despite treatment, according to a study published in Chest. 

Interstitial lung diseases such as IPF are characterized by inflammation and fibrosis of the lung. Studies reveal that many adult patients with interstitial lung diseases have SRG mutations; these genes are involved in producing surfactant fluid by alveolar epithelial type 2 cells. However, there has been no aggregated data on disease course and treatment response in patients who carry an SRG mutation. 

The authors of the study investigated the disease course, treatment response, and survival of patients with an SRG mutation in comparison with patients with sporadic IPF and familial pulmonary fibrosis (FPF). They recruited 23 patients with SRG mutations for the study. In addition, 575 patients with sporadic IPF and 248 patients with FPF were also recruited. 


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A number of clinical parameters were examined, including functional vital capacity, diffusing capacity of the lungs for carbon dioxide, age at diagnosis, smoking status, and survival data, among others. In addition, pulmonary function tests were assessed to determine treatment response. 

Read more about IPF epidemiology 

The results found that patients with SRG mutations had a median survival of 44 months, which was similar to patients with sporadic IPF and FPF, although the patients with SRG mutations were much younger. Treatment response was found to be highly variable. Nevertheless, the overall clinical picture was that adult patients with an SRG mutation demonstrate progressive lung function decline and reduced survival compared with patients with sporadic IPF and FPF. 

“Treatment of adults with an SRG mutation may have a favorable effect on slowing lung function decline; however, more research is needed to determine the best and perhaps gene-specific treatment approach for each individual patient,” the authors concluded. 

Reference

Klay D, Grutter JC, van der Vis JJ, et al. Progressive disease with low survival in patients with adult pulmonary fibrosis with surfactant-related gene mutations. Chest. Published online November 26, 2022. doi:10.1016/j.chest.2022.11.002