Telomerase-related monogenic lung fibrosis presenting with subacute onset: a case report and review of literature

ABSTRACTObjectives: Monogenic pulmonary fibrosis related to telomerase mutations is characterized by a large spectrum of clinical presentations. The disease may affect several organs including bone marrow, liver and skin. This case illustrates some of the most salient features of telomere-related Interstitial Lung Disease(ILD).Methods: Single case study and review of the litterature.Results: We report the case of a 44-year-old man admitted to our unit for subacute pulmonary fibrosis. No underlying cause could be identified. Personal and familial history was highly suggestive of monogenic telomere related lung fibrosis. Genetic investigation confirmed a mutation in  the TERT gene, coding for one of the components of telomerase. Given the severe hypoxemia unresponsive to supportive treatment, he was referred for urgent lung transplantation, with a favourable outcome. Genetic counselling was proposed to his family.Conclusions: Telomerase-related monogenic lung fibrosis may present with a subacute onset, requiring urgent lung transplantation. Extra-thoracic clinical manifestations and familial history are key elements pointing towards the diagnosis.