{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T04:31:34Z","timestamp":1780374694908,"version":"3.54.1"},"reference-count":29,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,6,1]],"date-time":"2018-06-01T00:00:00Z","timestamp":1527811200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2018,6,1]],"date-time":"2018-06-01T00:00:00Z","timestamp":1527811200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"Austrian Society of Internal Medicine","award":["Joseph-Skoda Award to M.M."],"award-info":[{"award-number":["Joseph-Skoda Award to M.M."]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["UEG Journal"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>The natural history of adult liver disease due to \u03b11\u2010antitrypsin deficiency (A1AD) remains poorly understood.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>We investigated whether heterozygosity for the Z\u2010allele predisposes for the development of clinically significant portal hypertension (CSPH). Moreover, we aimed to non\u2010invasively assess the prevalence of liver fibrosis and hepatic steatosis in adults with A1AD treated by pulmonologists.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>SERPINA1 rs28929474 (Z\u2010allele) was genotyped in 315 patients with CSPH (hepatic venous pressure gradient \u226510\u2009mmHg; cases) and 248 liver donors (controls). In addition, 31 adults with A1AD (Pi*ZZ\/Pi*SZ) and 11 first\u2010degree relatives (Pi*MZ\/Pi*MS) underwent liver stiffness and controlled attenuation parameter (CAP) measurement.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Heterozygosity for the Z\u2010allele was observed in 6.7% of patients with CSPH and 2.8% of liver donors. Thus, harboring the Z\u2010allele was associated with increased odds of CSPH (odds ratio: 2.47; 95% confidence interval: 1.03\u20135.9; <jats:italic>P<\/jats:italic>\u2009=\u20090.042). Among Pi*ZZ\/Pi*SZ patients, 23%\/3% had liver stiffness values indicative of liver fibrosis (\u2009\u2265F2\/\u2009\u2265F3). Interestingly, 65%\/52% of Pi*ZZ\/Pi*SZ patients had CAP values indicative of hepatic steatosis (\u2009\u2265S1\/\u2009\u2265S2).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Heterozygosity for the Z\u2010allele predisposes for the development of CSPH, confirming its role as a genetic (co)factor in liver disease. Pi*ZZ\/SZ patients rarely develop liver fibrosis\u2009\u2265F3 during adulthood; however, liver fibrosis\u2009\u2265F2 is common. Elevated CAP values hint at underlying hepatic steatosis, which might promote liver fibrosis progression.<\/jats:p><\/jats:sec>","DOI":"10.1177\/2050640618764057","type":"journal-article","created":{"date-parts":[[2018,3,1]],"date-time":"2018-03-01T04:53:26Z","timestamp":1519880006000},"page":"710-718","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":27,"title":["Liver disease in adults with \u03b11\u2010antitrypsin deficiency"],"prefix":"10.1002","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2330-0017","authenticated-orcid":false,"given":"Mattias","family":"Mandorfer","sequence":"first","affiliation":[{"name":"Department of Internal Medicine III Medical University of Vienna Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theresa","family":"Bucsics","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine III Medical University of Vienna Vienna 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