{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,8]],"date-time":"2025-12-08T22:46:07Z","timestamp":1765233967432,"version":"3.44.0"},"reference-count":19,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,3,24]]},"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:p>A subset of idiopathic pulmonary fibrosis cases has a familial component. Telomeric mutations, such as those in the <jats:italic>Regulator of Telomere Elongation Helicase<\/jats:italic> 1 (RTEL1) gene, have been associated with lung fibrosis and a minority of dyskeratosis congenita (DC) cases.<\/jats:p>\n               <jats:p>We present the case of a A male in his 50s with pulmonary fibrosis, cryptogenic hepatic cirrhosis, chronic anaemia and thrombocytopenia, lacy skin hyperpigmentation, dystrophic nails and canities. Family history included pulmonary fibrosis in two brothers. Genetic testing identified a RTEL1 mutation (c.3730T&gt;C, p.Cys1244Arg) in heterozygosity, linked to a few cases of pulmonary fibrosis and DC. This mutation was confirmed in one brother and two sons. The patient was started on pirfenidone and referred for respiratory rehabilitation, haematological and transplant evaluations.<\/jats:p>\n               <jats:p>Recognising family history and extrapulmonary manifestations in familial pulmonary fibrosis can expedite diagnosis, treatment and genetic counselling. Early detection of DC allows timely management of bone marrow failure and malignancy screening.<\/jats:p>","DOI":"10.1136\/bcr-2025-265092","type":"journal-article","created":{"date-parts":[[2025,4,8]],"date-time":"2025-04-08T16:31:46Z","timestamp":1744129906000},"page":"e265092","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Familial pulmonary fibrosis with dyskeratosis congenita associated with a rare RTEL1 gene mutation"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1849-6094","authenticated-orcid":false,"given":"Chantal","family":"Cortes\u00e3o","sequence":"first","affiliation":[{"name":"Pulmonology, ULS Coimbra, Coimbra, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7845-0007","authenticated-orcid":false,"given":"Leticia","family":"Balanco","sequence":"additional","affiliation":[{"name":"Pulmonology, ULS Coimbra, Coimbra, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0438-8597","authenticated-orcid":false,"given":"Pedro Gon\u00e7alo","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Pulmonology, ULS Coimbra, Coimbra, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,4,8]]},"reference":[{"key":"2025082711092478000_18.4.e265092.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rmed.2011.08.022"},{"key":"2025082711092478000_18.4.e265092.2","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1093\/qjmed\/hcab315","article-title":"Novel heterozygous mutation of RTEL1 in interstitial pneumonia with autoimmune feature","volume":"115","author":"Yuan","year":"2022","journal-title":"QJM"},{"key":"2025082711092478000_18.4.e265092.3","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00308-2016"},{"key":"2025082711092478000_18.4.e265092.4","unstructured":"Adam MP , Feldman J , Mirzaa GM , eds. Dyskeratosis congenita and related telomere biology disorders. Seattle (WA): University of Washington, Seattle, 1993."},{"key":"2025082711092478000_18.4.e265092.5","first-page":"157","article-title":"The diagnosis and treatment of dyskeratosis congenita: a review","volume":"5","author":"Fern\u00e1ndez Garc\u00eda","year":"2014","journal-title":"J Blood Med"},{"key":"2025082711092478000_18.4.e265092.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccm.2011.11.001"},{"key":"2025082711092478000_18.4.e265092.7","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201805-0825OC"},{"key":"2025082711092478000_18.4.e265092.8","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt178"},{"key":"2025082711092478000_18.4.e265092.9","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.01383-2022","article-title":"European Respiratory Society statement on familial pulmonary fibrosis","volume":"61","author":"Borie","year":"2023","journal-title":"Eur Respir J"},{"key":"2025082711092478000_18.4.e265092.10","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.2009-040GL"},{"key":"2025082711092478000_18.4.e265092.11","doi-asserted-by":"publisher","DOI":"10.1097\/MAJ.0b013e31821a9d7a"},{"key":"2025082711092478000_18.4.e265092.12","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00163814"},{"key":"2025082711092478000_18.4.e265092.13","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-07-2622"},{"key":"2025082711092478000_18.4.e265092.14","doi-asserted-by":"crossref","first-page":"1913","DOI":"10.1016\/j.chest.2021.01.026","article-title":"Family History of Pulmonary Fibrosis Predicts Worse Survival in Patients With Interstitial Lung Disease","volume":"159","author":"Cutting","year":"2021","journal-title":"Chest"},{"key":"2025082711092478000_18.4.e265092.15","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1007\/s00408-019-00203-w","article-title":"Pirfenidone Therapy for Familial Pulmonary Fibrosis: A Real-Life Study","volume":"197","author":"Bennett","year":"2019","journal-title":"Lung"},{"key":"2025082711092478000_18.4.e265092.16","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.202202-0399ST"},{"key":"2025082711092478000_18.4.e265092.17","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1016\/j.healun.2017.02.005","article-title":"Telomere length in patients with pulmonary fibrosis associated with chronic lung allograft dysfunction and post\u2013lung transplantation survival","volume":"36","author":"Newton","year":"2017","journal-title":"J Heart Lung Transplant"},{"key":"2025082711092478000_18.4.e265092.18","doi-asserted-by":"publisher","DOI":"10.1016\/j.healun.2015.05.002"},{"key":"2025082711092478000_18.4.e265092.19","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00060014"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-265092","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T18:09:34Z","timestamp":1756318174000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-265092"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4]]},"references-count":19,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2025,4,8]]},"published-print":{"date-parts":[[2025,4]]}},"alternative-id":["10.1136\/bcr-2025-265092"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-265092","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2025,4]]}}}