{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T04:48:10Z","timestamp":1782535690997,"version":"3.54.5"},"reference-count":11,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2026,6,20]],"date-time":"2026-06-20T00:00:00Z","timestamp":1781913600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Alpha-1 antitrypsin deficiency (AATD) is a genetically heterogeneous disorder with well-established pulmonary and hepatic manifestations; however, the clinical significance of rare compound heterozygous SERPINA1 variants remains incompletely defined. We report the case of a 61-year-old never-smoking woman with chronically elevated liver transaminase who was found to carry a compound heterozygous SERPINA1 genotype (PI*V\/Mprocida) previously classified as non-polymerogenic and not previously associated with hepatic inclusions. This case expands the phenotypic spectrum of AATD and highlights the importance of considering SERPINA1 genotyping in adults with unexplained chronic transaminase elevation, while raising clinically relevant questions regarding surveillance and management in atypical AATD phenotypes.<\/jats:p>","DOI":"10.3390\/ijms27125589","type":"journal-article","created":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T03:09:17Z","timestamp":1782270557000},"page":"5589","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Hepatic Alpha-1 Antitrypsin Globules in Compound Heterozygous SERPINA1 Variants Previously Considered Non-Polymerizing: A Case Report"],"prefix":"10.3390","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8608-9223","authenticated-orcid":false,"given":"Panaiotis","family":"Finamore","sequence":"first","affiliation":[{"name":"Unit of Internal Medicine, Fondazione Policlinico Universitario Campus Bio-Medico, 00128 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Santangelo","sequence":"additional","affiliation":[{"name":"Unit of Internal Medicine, Fondazione Policlinico Universitario Campus Bio-Medico, 00128 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8292-1134","authenticated-orcid":false,"given":"Paolo","family":"Gallo","sequence":"additional","affiliation":[{"name":"Operative Research Unit of Clinical Medicine and Hepatology, Fondazione Policlinico Universitario Campus Bio-Medico, 00128 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4892-4192","authenticated-orcid":false,"given":"Ilaria","family":"Ferrarotti","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Pulmonology, UOC Pulmonology, IRCCS S. Matteo Hospital Foundation Pavia, 27100 Pavia, Italy"},{"name":"Department of Internal Medicine and Therapeutics, Pulmonology Section, University of Pavia, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0714-1087","authenticated-orcid":false,"given":"Alice Maria","family":"Balderacchi","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Pulmonology, UOC Pulmonology, IRCCS S. 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Chem. Lab. Med."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"15528","DOI":"10.1016\/S0021-9258(19)37620-3","article-title":"Characterization of the Gene and Protein of the Alpha 1-Antitrypsin \u201cDeficiency\u201d Allele Mprocida","volume":"263","author":"Takahashi","year":"1988","journal-title":"J. Biol. Chem."},{"key":"ref_3","first-page":"1113","article-title":"Identification and DNA Sequence Analysis of 15 New Alpha 1-Antitrypsin Variants, Including Two PI*Q0 Alleles and One Deficient PI*M Allele","volume":"55","author":"Faber","year":"1994","journal-title":"Am. J. Hum. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"65","DOI":"10.2174\/0929867324666161118125827","article-title":"Alpha-1 Antitrypsin Deficiency: Current Perspective from Genetics to Diagnosis and Therapeutic Approaches","volume":"24","author":"Santangelo","year":"2017","journal-title":"Curr. Med. 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