Interstitial lung disease with genetic susceptibility: case report

Abstract

Abstract Introduction Interstitial lung disease (ILD) includes more than 200 progressive conditions classified based on common clinical, imaging or pathophysiological factors. Case presentation A 37-year-old male, former smoker, with unknown exposure and a family history of incompletely identified ILD, underwent functional and imaging investigations that raise the suspicion of an ILD with a pattern of non-specific interstitial pneumonia (NSIP). High-resolution computer tomography (HRCT) imaging detects the progression of lesions. The severely altered functional status does not allow a lung biopsy to be performed to elucidate the aetiology and establish the optimal therapeutic approach. Bronchoscopy with bronchial aspirate sampling and bronchoalveolar lavage does not suggest a specific ILD aetiology. A diagnosis of diffuse fibrosing and progressive ILD – an unclassifiable phenotype – was established, and after a multidisciplinary discussion, antifibrotic treatment was initiated. A genetic test was performed for a possible familial ILD with a genetic component. The test identified the presence of an autosomal recessive combined immunodeficiency due to NF-κB inducing kinase (NIK) deficiency associated with the MAP3K14 gene leading to the suspicion of a familial ILD. Discussion Genetic testing is essential for diagnosis of ILD, especially in young patients with a family history. Antifibrotics are the only available option for such cases; if immunosuppressive therapy should be initiated still remains a question. Is a lung transplant a realistic solution in such cases? Conclusions Familial aggregation and genetic changes should be sought for in diffuse ILD diagnosis.