Familial pulmonary fibrosis: Clinical-functional and radiological features

Familial pulmonary fibrosis (FPF) is defined as an idiopathic interstitial pneumonia in two or more consanguineous. Starting from our database, we performed a retrospective analysis of clinical, functional and HRCT features of 35 patients (15 males, age at the diagnosis 58.9±9.2 years), belonging to 23 different families with FPF. Prevalent symptoms at onset were dry cough and dyspnoea, but 10% of the patients were asymptomatic and referred to us for ILD assessment because of their familiar history of pulmonary fibrosis. Two main HRCT patterns have been documented: possible UIP (20/35 patients; 57%) and fibrotic-NSIP (14/35 patients; 40%), only one patient showed a typical UIP pattern. In CT analysis hiatal hernia and mediastinal lipomatosis were statistically more frequent in patients with possible UIP pattern than in fibrotic NSIP (p<0.001). Pulmonary function test parameters revealed FEV1 78.8±19.7%; FVC 74.04±19.38%; Tiff 83.5±5.3% and DLCO 50.5±22.8%. Dividing the population according to HRCT findings no difference was found in PFTs parameters and DLCO% (p>0.05) between probable UIP and fibrotic NSIP. Following the patients routinely with PFTs every 3 months we observed that no significant worsening in FVC%, FEV1% and DLCO% was evident after 1-year follow-up. Our study shows that functional deterioration is less evident in FPF than expected for sporadic IPF, suggesting that the disease progression is slower. FPF does not present with a single HRCT pattern, being possible UIP and fibrotic NSIP the prevalent ones. Interestingly, hiatal hernia and mediastinal lipomatosis were more frequently observed in the possible UIP group.