Pleuroparenchymal fibroelastosis (PPFE) is a poorly understood disorder among idiopathic interstitial lung diseases (ILD). The literature suggests that the proportion of patients with a familial pulmonary fibrosis and/or mutation of the telomere-related genes (TRG) would be particularly high. The aim of the study was to assess its impact on phenotype and prognosis.

This case-control, retrospective, bicentric study included all patients who had a multidisciplinary discussion diagnosis of PPFE validated by a consensual review of computed tomography (CT) scans. Two groups were compared according to the presence or not of a familial form and/or mutation.

Over 62 patients included, 26 (42%) had a familial form and/or mutation. 66% were women, of 59.5 ± 12,8 yo and a low body mass index of 20,5 ± 2,9 Kg/m2. At diagnosis, FVC was 66.6 ± 26.2%, DLco 56.1 ± 17.3% and diffuse interstitial lung disease (ILD) of the bases was associated in 53% of cases. A large part progressed functionally (44% at 1 year) and on CT (63% at 5 years). 8% presented one or more pneumomediastinum and 19% a pneumothorax. The clinical and radiological characteristics were similar in the 2 groups. After a follow-up of 34.2 ± 27.6 months, 14 patients died, 8 were transplanted. The overall survival was 54.2% at 5 years, with no significant difference between groups (p=0.13). Association with a lower lobes ILD and a decreased FVC were predictive factors of mortality.

PPFE is a disorder with a high prevalence of subjects with a familial form and/or mutation of the TRG and associated with a substantial progression and mortality, suggesting to systematically carry out a genetic analysis.