{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T01:51:37Z","timestamp":1789177897253,"version":"build-2803163510"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2025,3,13]],"date-time":"2025-03-13T00:00:00Z","timestamp":1741824000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,3,13]],"date-time":"2025-03-13T00:00:00Z","timestamp":1741824000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"DOI":"10.13039\/100031585","name":"Takeda Development Center Americas, Inc.","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100031585","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Qual Life Res"],"published-print":{"date-parts":[[2025,6]]},"DOI":"10.1007\/s11136-025-03926-x","type":"journal-article","created":{"date-parts":[[2025,3,13]],"date-time":"2025-03-13T13:35:13Z","timestamp":1741872913000},"page":"1823-1832","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Patient experience of alpha-1 antitrypsin deficiency-associated liver disease: a qualitative study"],"prefix":"10.1007","volume":"34","author":[{"given":"Virginia C.","family":"Clark","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suna","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Krupnick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Sparling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason","family":"Ritchie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chitra","family":"Karki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justin A.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,3,13]]},"reference":[{"issue":"2","key":"3926_CR1","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1002\/hep.1840080220","volume":"8","author":"FK Ghishan","year":"1988","unstructured":"Ghishan, F. K., & Greene, H. L. (1988). Liver disease in children with PiZZ alpha 1-antitrypsin deficiency. Hepatology, 8(2), 307\u2013310. https:\/\/doi.org\/10.1002\/hep.1840080220","journal-title":"Hepatology"},{"issue":"16","key":"3926_CR2","doi-asserted-by":"publisher","first-page":"1851","DOI":"10.1289\/ehp.6511","volume":"111","author":"FJ de Serres","year":"2003","unstructured":"de Serres, F. J. (2003). Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed. Environmental Health Perspectives, 111(16), 1851\u20131854. https:\/\/doi.org\/10.1289\/ehp.6511","journal-title":"Environmental Health Perspectives"},{"issue":"5","key":"3926_CR3","doi-asserted-by":"publisher","first-page":"502","DOI":"10.1164\/rccm.201204-0739OC","volume":"187","author":"MF Dawwas","year":"2013","unstructured":"Dawwas, M. F., Davies, S. E., Griffiths, W. J., Lomas, D. A., & Alexander, G. J. (2013). Prevalence and risk factors for liver involvement in individuals with PiZZ-related lung disease. American Journal of Respiratory and Critical Care Medicine, 187(5), 502\u2013508. https:\/\/doi.org\/10.1164\/rccm.201204-0739OC","journal-title":"American Journal of Respiratory and Critical Care Medicine"},{"issue":"1","key":"3926_CR4","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1186\/s13023-020-01352-5","volume":"15","author":"M Brantly","year":"2020","unstructured":"Brantly, M., Campos, M., Davis, A. M., D\u2019Armiento, J., Goodman, K., Hanna, K., O\u2019Day, M., Queenan, J., Sandhaus, R., Stoller, J., & Strange, C. (2020). Detection of alpha-1 antitrypsin deficiency: The past, present and future. Orphanet Journal of Rare Diseases, 15(1), 96. https:\/\/doi.org\/10.1186\/s13023-020-01352-5","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"3926_CR5","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0172-y","author":"I Ferrarotti","year":"2014","unstructured":"Ferrarotti, I., Carroll, T. P., Ottaviani, S., Fra, A. M., O\u2019Brien, G., Molloy, K., Corda, L., Medicina, D., Curran, D. R., McElvaney, N. G., & Luisetti, M. (2014). Identification and characterisation of eight novel SERPINA1 Null mutations. Orphanet Journal of Rare Diseases. https:\/\/doi.org\/10.1186\/s13023-014-0172-y","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"3926_CR6","first-page":"52","volume-title":"Alpha-1 antitrypsin deficiency (ERS monograph)","author":"C Saltini","year":"2019","unstructured":"Saltini, C., & Krotova, K. (2019). Mechanisms of lung disease. In P. Strnad, M. L. Brantly, & R. Bals (Eds.), Alpha-1 antitrypsin deficiency (ERS monograph) (pp. 52\u201363). European Respiratory Society."},{"issue":"15","key":"3926_CR7","doi-asserted-by":"publisher","first-page":"1443","DOI":"10.1056\/NEJMra1910234","volume":"382","author":"P Strnad","year":"2020","unstructured":"Strnad, P., McElvaney, N. G., & Lomas, D. A. (2020). Alpha1-antitrypsin deficiency. New England Journal of Medicine, 382(15), 1443\u20131455. https:\/\/doi.org\/10.1056\/NEJMra1910234","journal-title":"New England Journal of Medicine"},{"issue":"8","key":"3926_CR8","doi-asserted-by":"publisher","first-page":"1065","DOI":"10.3390\/biom11081065","volume":"11","author":"JA Voynow","year":"2021","unstructured":"Voynow, J. A., & Shinbashi, M. (2021). Neutrophil elastase and chronic lung disease. Biomolecules, 11(8), 1065. https:\/\/doi.org\/10.3390\/biom11081065","journal-title":"Biomolecules"},{"issue":"7","key":"3926_CR9","doi-asserted-by":"publisher","first-page":"818","DOI":"10.1164\/rccm.168.7.818","volume":"168","author":"American Thoracic Society; European Respiratory Society","year":"2003","unstructured":"American Thoracic Society; European Respiratory Society. (2003). American Thoracic Society\/European Respiratory Society statement: Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. American Journal of Respiratory and Critical Care Medicine, 168(7), 818\u2013900. https:\/\/doi.org\/10.1164\/rccm.168.7.818","journal-title":"American Journal of Respiratory and Critical Care Medicine"},{"key":"3926_CR10","doi-asserted-by":"publisher","first-page":"204062232110159","DOI":"10.1177\/20406223211015954","volume":"12","author":"KE Foil","year":"2021","unstructured":"Foil, K. E. (2021). Variants of SERPINA1 and the increasing complexity of testing for alpha-1 antitrypsin deficiency. Therapeutic Advances in Chronic Disease, 12, 20406223211015950. https:\/\/doi.org\/10.1177\/20406223211015954","journal-title":"Therapeutic Advances in Chronic Disease"},{"key":"3926_CR11","first-page":"114","volume-title":"Alpha-1 antitrypsin deficiency (ERS monograph)","author":"P Strnad","year":"2019","unstructured":"Strnad, P., Schneider, C. V., & Clark, V. (2019). Clinical approach to liver disease in adults with AATD. In P. Strnad, M. L. Brantly, & R. Bals (Eds.), Alpha-1 antitrypsin deficiency (ERS monograph) (pp. 114\u2013126). European Respiratory Society."},{"issue":"2","key":"3926_CR12","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1136\/gutjnl-2020-323729","volume":"71","author":"M Fromme","year":"2022","unstructured":"Fromme, M., Schneider, C. V., Pereira, V., Hamesch, K., Pons, M., Reichert, M. C., Benini, F., Ellis, P., Thorhauge, K. H., Mandorfer, M., & Burbaum, B. (2022). Hepatobiliary phenotypes of adults with alpha-1 antitrypsin deficiency. Gut, 71(2), 415\u2013423. https:\/\/doi.org\/10.1136\/gutjnl-2020-323729","journal-title":"Gut"},{"issue":"3","key":"3926_CR13","doi-asserted-by":"publisher","first-page":"705","DOI":"10.1053\/j.gastro.2019.05.013","volume":"157","author":"K Hamesch","year":"2019","unstructured":"Hamesch, K., Mandorfer, M., Pereira, V. M., Moeller, L. S., Pons, M., Dolman, G. E., Reichert, M. C., Schneider, C. V., Woditsch, V., Voss, J., & Lindhauer, C. (2019). Liver fibrosis and metabolic alterations in adults with alpha-1-antitrypsin deficiency caused by the Pi*ZZ mutation. Gastroenterology, 157(3), 705\u2013719.e18. https:\/\/doi.org\/10.1053\/j.gastro.2019.05.013","journal-title":"Gastroenterology"},{"issue":"7","key":"3926_CR14","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1111\/apt.14537","volume":"47","author":"SA Townsend","year":"2018","unstructured":"Townsend, S. A., Edgar, R. G., Ellis, P. R., Kantas, D., Newsome, P. N., & Turner, A. M. (2018). Systematic review: The natural history of alpha-1 antitrypsin deficiency, and associated liver disease. Alimentary Pharmacology & Therapeutics, 47(7), 877\u2013885. https:\/\/doi.org\/10.1111\/apt.14537","journal-title":"Alimentary Pharmacology & Therapeutics"},{"key":"3926_CR15","doi-asserted-by":"publisher","DOI":"10.1183\/16000617.0262-2021","author":"M Miravitlles","year":"2022","unstructured":"Miravitlles, M., Herepath, M., Priyendu, A., Sharma, S., Vilchez, T., Vit, O., Haensel, M., Lepage, V., Gens, H., & Greulich, T. (2022). Disease burden associated with alpha-1 antitrypsin deficiency: Systematic and structured literature reviews. European Respiratory Review. https:\/\/doi.org\/10.1183\/16000617.0262-2021","journal-title":"European Respiratory Review"},{"issue":"3","key":"3926_CR16","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1007\/s40139-017-0147-5","volume":"5","author":"EL Mitchell","year":"2017","unstructured":"Mitchell, E. L., & Khan, Z. (2017). Liver disease in alpha-1 antitrypsin deficiency: Current approaches and future directions. Current Pathobiology Reports, 5(3), 243\u2013252. https:\/\/doi.org\/10.1007\/s40139-017-0147-5","journal-title":"Current Pathobiology Reports"},{"issue":"2","key":"3926_CR17","doi-asserted-by":"publisher","first-page":"406","DOI":"10.1016\/j.jhep.2018.03.024","volume":"69","author":"P Angeli","year":"2018","unstructured":"Angeli, P., Bernardi, M., Villanueva, C., Francoz, C., Mookerjee, R. P., Trebicka, J., Krag, A., Laleman, W., & Gines, P. (2018). EASL clinical practice guidelines for the management of patients with decompensated cirrhosis. Journal of Hepatology, 69(2), 406\u2013460. https:\/\/doi.org\/10.1016\/j.jhep.2018.03.024","journal-title":"Journal of hepatology"},{"issue":"3","key":"3926_CR18","doi-asserted-by":"publisher","first-page":"172","DOI":"10.15326\/jcopdf.7.3.2019.0148","volume":"7","author":"M Bouchecareilh","year":"2020","unstructured":"Bouchecareilh, M. (2020). Alpha-1 antitrypsin deficiency-mediated liver toxicity: Why do some patients do poorly? What do we know so far? Chronic Obstructive Pulmonary Diseases, 7(3), 172\u2013181. https:\/\/doi.org\/10.15326\/jcopdf.7.3.2019.0148","journal-title":"Chronic Obstructive Pulmonary Diseases"},{"issue":"1","key":"3926_CR19","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1177\/1753465815602162","volume":"10","author":"T Greulich","year":"2016","unstructured":"Greulich, T., & Vogelmeier, C. F. (2016). Alpha-1-antitrypsin deficiency: Increasing awareness and improving diagnosis. Therapeutic Advances in Respiratory Disease, 10(1), 72\u201384. https:\/\/doi.org\/10.1177\/1753465815602162","journal-title":"Therapeutic Advances in Respiratory Disease"},{"key":"3926_CR20","doi-asserted-by":"publisher","DOI":"10.1183\/23120541.00171-2018","author":"I Horv\u00e1th","year":"2019","unstructured":"Horv\u00e1th, I., Canotilho, M., Chlumsk\u00fd, J., Chorostowska-Wynimko, J., Corda, L., Derom, E., Ficker, J. H., Kneussl, M., Miravitlles, M., Sucena, M., & Thabut, G. (2019). Diagnosis and management of \u03b1(1)-antitrypsin deficiency in Europe: An expert survey. ERJ Open Research. https:\/\/doi.org\/10.1183\/23120541.00171-2018","journal-title":"ERJ Open Research"},{"issue":"Suppl 4","key":"3926_CR21","doi-asserted-by":"publisher","first-page":"S317","DOI":"10.1513\/AnnalsATS.201506-349KV","volume":"13","author":"JK Stoller","year":"2016","unstructured":"Stoller, J. K. (2016). Detecting alpha-1 antitrypsin deficiency. Annals of the American Thoracic Society, 13(Suppl 4), S317\u2013S325. https:\/\/doi.org\/10.1513\/AnnalsATS.201506-349KV","journal-title":"Annals of the American Thoracic Society"},{"issue":"8","key":"3926_CR22","doi-asserted-by":"publisher","first-page":"915","DOI":"10.4187\/respcare.06555","volume":"64","author":"V Tejwani","year":"2019","unstructured":"Tejwani, V., Nowacki, A. S., Fye, E., Sanders, C., & Stoller, J. K. (2019). The impact of delayed diagnosis of alpha-1 antitrypsin deficiency: The association between diagnostic delay and worsened clinical status. Respiratory Care, 64(8), 915\u2013922. https:\/\/doi.org\/10.4187\/respcare.06555","journal-title":"Respiratory Care"},{"key":"3926_CR23","doi-asserted-by":"publisher","first-page":"959","DOI":"10.2147\/TCRM.S175369","volume":"15","author":"T Beiko","year":"2019","unstructured":"Beiko, T., & Strange, C. (2019). Anxiety and depression in patients with alpha-1 antitrypsin deficiency: Current insights and impact on quality of life. Therapeutics and Clinical Risk Management, 15, 959\u2013964. https:\/\/doi.org\/10.2147\/TCRM.S175369","journal-title":"Therapeutics and Clinical Risk Management"},{"key":"3926_CR24","doi-asserted-by":"publisher","first-page":"204062232199568","DOI":"10.1177\/2040622321995684","volume":"12","author":"D Patel","year":"2021","unstructured":"Patel, D., & Teckman, J. (2021). Liver disease with unknown etiology\u2014Have you ruled out alpha-1 antitrypsin deficiency? Therapeutic Advances in Chronic Disease, 12, 2040622321995684. https:\/\/doi.org\/10.1177\/2040622321995684","journal-title":"Therapeutic Advances in Chronic Disease"},{"issue":"5","key":"3926_CR25","doi-asserted-by":"publisher","first-page":"1158","DOI":"10.1016\/j.jhep.2014.06.034","volume":"61","author":"JG Orr","year":"2014","unstructured":"Orr, J. G., Homer, T., Ternent, L., Newton, J., McNeil, C. J., Hudson, M., & Jones, D. E. (2014). Health related quality of life in people with advanced chronic liver disease. Journal of Hepatology, 61(5), 1158\u20131165. https:\/\/doi.org\/10.1016\/j.jhep.2014.06.034","journal-title":"Journal of Hepatology"},{"issue":"1","key":"3926_CR26","doi-asserted-by":"publisher","first-page":"21","DOI":"10.5114\/pg.2022.114594","volume":"17","author":"A Ko\u015bnik","year":"2022","unstructured":"Ko\u015bnik, A., & W\u00f3jcicki, M. (2022). Fatigue in chronic liver disease patients: Prevalence, pathophysiology, and management. Przeglad Gastroenterologiczny, 17(1), 21\u201327. https:\/\/doi.org\/10.5114\/pg.2022.114594","journal-title":"Przeglad Gastroenterologiczny"},{"issue":"6","key":"3926_CR27","doi-asserted-by":"publisher","first-page":"1357","DOI":"10.1016\/j.jhep.2018.08.005","volume":"69","author":"VC Clark","year":"2018","unstructured":"Clark, V. C., Marek, G., Liu, C., Collinsworth, A., Shuster, J., Kurtz, T., Nolte, J., & Brantly, M. (2018). Clinical and histologic features of adults with alpha-1 antitrypsin deficiency in a non-cirrhotic cohort. Journal of Hepatology, 69(6), 1357\u20131364. https:\/\/doi.org\/10.1016\/j.jhep.2018.08.005","journal-title":"Journal of Hepatology"},{"issue":"Suppl 1","key":"3926_CR28","doi-asserted-by":"publisher","first-page":"35","DOI":"10.3109\/15412555.2013.765839","volume":"10","author":"JH Teckman","year":"2013","unstructured":"Teckman, J. H. (2013). Liver disease in alpha-1 antitrypsin deficiency: Current understanding and future therapy. COPD: Journal of Chronic Obstructive Pulmonary Disease, 10(Suppl 1), 35\u201343. https:\/\/doi.org\/10.3109\/15412555.2013.765839","journal-title":"COPD: Journal of Chronic Obstructive Pulmonary Disease"}],"container-title":["Quality of Life Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11136-025-03926-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s11136-025-03926-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11136-025-03926-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,28]],"date-time":"2025-05-28T12:00:57Z","timestamp":1748433657000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s11136-025-03926-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,13]]},"references-count":28,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,6]]}},"alternative-id":["3926"],"URL":"https:\/\/doi.org\/10.1007\/s11136-025-03926-x","relation":{},"ISSN":["0962-9343","1573-2649"],"issn-type":[{"value":"0962-9343","type":"print"},{"value":"1573-2649","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,13]]},"assertion":[{"value":"12 February 2025","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 March 2025","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"VCC has received research support from Novo Nordisk, Takeda, and Vertex, and consulting fees from Takeda and Vertex. SP and CK are employees and stockholders of Takeda Development Center Americas, Inc. RK, NS, and JR are employees of IQVIA, which received funding for this study from Takeda Development Center Americas, Inc. JAR has received consulting fees from Gilead and Takeda, and speaker\u2019s bureau fees from AbbVie.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"All research was conducted in accordance with both the Declarations of Helsinki and Istanbul and approved by the Western Copernicus Group Institutional Review Board (formerly the Western Institutional Review Board). Consent was given in writing by all patients.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval and consent to participate"}},{"value":"Patients provided written consent for de-identified data to be published or presented.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to publish"}}]}}