Real-life experience of familial fibrosis in a Belgian university

Introduction: Familial pulmonary fibrosis (FPF) is defined as lung fibrosis affecting at least 2 members of the 1st degree of a family. Monogenic pulmonary fibrosis is usually investigated in this case and/or when an idiopathic interstitial lung disease occurs in a patient younger than 55 years-old, eventually associated with extra-thoracic involvement. We reviewed all FPF cases seen in our university (2 tertiary hospitals) in 2017 and 2018. Methods: All FPF patients and an equal number of sporadic idiopathic pulmonary fibrosis (IPF) diagnosed between January 1st 2017 and December 31st 2018 were included in a database. Baseline characteristics, lung function tests, HRCT and histological patterns, haematological and liver features and one-year survival were studied. We used Mann-Whitney U and Chi-Square tests for statistical analysis. Our local ethics committee approved the study. Results: In 2017 and 2018, 24 patients had suspected FPF and/or monogenic lung fibrosis (3.9% of all patients discussed in multidisciplinary meeting). They were significantly younger (median age at diagnosis 63 ± 11 years) as compared to the 24 sporadic IPF patients (73 ± 9 years), P = 0.002. Fifteen FPF patients (62.5%) agreed to undergo genetic testing. We identified a mutation of the telomerase complex in 6 of them (40%). Extra-pulmonary involvement was significantly associated with FPF (P = 0.02). One-year mortality was significantly higher in FPF (29%) as compared to IPF (4%), P = 0.02. Conclusion: Our study confirms that FPF represents a substantial part of ILD, has a poor prognosis and is associated with extra-pulmonary involvement and younger age. Those patients require early support, multidisciplinary approach and genetic counselling.