Abstract

It is increasingly recognised that IPF and other fibrosing ILDs have a genetic basis in a significant proportion of patients. Those with monogenic inherited forms of ILD must be identified in order to offer them genetic counselling, monitoring of pulmonary / extra pulmonary features and allow timely access to other specialities, transplant services and clinical trials. By establishing a familial pulmonary fibrosis clinic at Royal Papworth Hospital we aimed to facilitate this personalised care and facilitateclinical and scientific research.


We identified 100 patients with familial disease (?1 affected 1st degree relative or a known pathogenic mutation), 65 of whom are alive. This comprises approximately 10% of our total IPF cohort. With an average age of 65 (range 19-84), they are younger than our standard cohort. Their radiology is variable, the commonest pattern being UIP (58%) but NSIP, hypersensitivity pneumonitis, PPFE and sarcoid are also seen. 70% have had genetic testing, with 40% of these awaiting results from the new national genomic test directory familial ILD panel. 44% of those with results have a pathogenic variant or likely pathogenic VUS (2 TERT, 1 TERC, 2 RTEL1, 4 PARN, 3 SFTPC). These results have led to family screening, referrals to allied specialties, complex transplant assessment planning as well as ongoing disease modelling of novel variants in cell models.


Through this service we have been able to phenotype our familial ILD cohort and provide individualised clinical care. Ongoing follow-up will provide valuable information on variant-specific longitudinal disease behaviour and provide ongoing clinical and scientific research opportunities.