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The patient was referred to the regional cystic fibrosis (CF) centre for follow-up but died from hepatobiliary complications. The atypical presentation with relatively late onset of pulmonary disease and hepatobiliary disease predominance created a diagnostic challenge. This case is a reminder that while CF is a monogenic disorder, its manifestation, natural history and extent can be highly variable. Taking a thorough medical history of any chronic illness is essential, and patients with the appropriate clinical presentation, regardless of age, should be investigated for CF.<\/jats:p>","DOI":"10.1136\/bcr-2023-255602","type":"journal-article","created":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T12:40:10Z","timestamp":1700570410000},"page":"e255602","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Delayed identification of compound heterozygous (Phe508del\/Arg117His) cystic fibrosis variants in a patient awaiting liver transplantation"],"prefix":"10.1136","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9495-3544","authenticated-orcid":false,"given":"Mostin","family":"Hu","sequence":"first","affiliation":[{"name":"School of Clinical Medicine, University of Cambridge, Cambridge, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"McLellan","sequence":"additional","affiliation":[{"name":"Royal Papworth Hospital, Cambridge, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorothy","family":"Grogono","sequence":"additional","affiliation":[{"name":"Royal Papworth Hospital, Cambridge, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sumit","family":"Karia","sequence":"additional","affiliation":[{"name":"Addenbrooke's Hospital, Cambridge, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jurgen","family":"Herre","sequence":"additional","affiliation":[{"name":"Addenbrooke's Hospital, Cambridge, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2023,11,21]]},"reference":[{"key":"2025082804250477000_16.11.e255602.1","doi-asserted-by":"publisher","DOI":"10.1016\/s0140-6736(16)00576-6"},{"key":"2025082804250477000_16.11.e255602.2","doi-asserted-by":"publisher","DOI":"10.1378\/chest.126.4.1215"},{"key":"2025082804250477000_16.11.e255602.3","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200403-404OC"},{"key":"2025082804250477000_16.11.e255602.4","first-page":"1","article-title":"The diagnosis of cystic fibrosis in adult age, data from the Italian Registry","volume":"11","author":"Padoan","year":"2021","journal-title":"Diagnostics (Basel)"},{"key":"2025082804250477000_16.11.e255602.5","unstructured":"Sokhi S , Charman S , Carr S , et al . 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