Journal club

Abstract

Although there is an increasing availability of gene sequencing, the genetic assessment of patients with interstitial lung disease (ILD) to identify familial pulmonary fibrosis (FPF) has not become integrated into clinical practice. Borie and colleagues (Eur Respir J 2023;61:2201383) review the latest evidence to form an European Respiratory Society statement on FPF. The task force developed several narrative questions to guide clinical practice. Recommendations include identifying patients who may benefit from further genetic evaluation including those with ILD and a first or second-degree family members with fibrotic ILD, with a relative with a known related genetic mutation, with short telomere syndrome or presentation of ILD before the age of 50 years. The task force reviewed evidence indicating a worse prognosis for patients with FPF compared with non-familial forms of ILD. When performing genetic testing, typical telomere and surfactant-related genes should be covered and measurement of telomere length should be considered. However, genetic polymorphisms were not felt to be useful in routine patient workup. Patients with FPF and progressive disease should be treated with antifibrotic drug regimens as per current international guidance. It was recommended that all first-degree relatives (FDR) of patients with FPF are offered periodical clinical evaluation. Chest CT and pulmonary function tests should be performed if respiratory symptoms are declared and all relatives should be advised on appropriate risk reduction behaviour such as smoking cessation. The guidance is a useful addition given the paucity of data in this area to guide clinicians.