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Volume 27
Issue 12
10.3390/ijms27125589
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This is an early access version, the complete PDF, HTML, and XML versions will be available soon.
Case Report

Hepatic Alpha-1 Antitrypsin Globules in Compound Heterozygous SERPINA1 Variants Previously Considered Non-Polymerizing: A Case Report

by
Panaiotis Finamore
1,*,
Simona Santangelo
1,
Paolo Gallo
2,
Ilaria Ferrarotti
3,4,
Alice Maria Balderacchi
3,
Andrea Falcomatà
2,
Daniele Colombo
5,
Franca Del Nonno
5,
Umberto Vespasiani-Gentilucci
2,
Raffaele Antonelli Incalzi
1 and
Simone Scarlata
1
1
Unit of Internal Medicine, Fondazione Policlinico Universitario Campus Bio-Medico, 00128 Rome, Italy
2
Operative Research Unit of Clinical Medicine and Hepatology, Fondazione Policlinico Universitario Campus Bio-Medico, 00128 Rome, Italy
3
Laboratory of Molecular Pulmonology, UOC Pulmonology, IRCCS S. Matteo Hospital Foundation Pavia, 27100 Pavia, Italy
4
Department of Internal Medicine and Therapeutics, Pulmonology Section, University of Pavia, 27100 Pavia, Italy
5
Pathology Unit, National Institute for Infectious Diseases “Lazzaro Spallanzani” (IRCCS), 00149 Rome, Italy
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2026, 27(12), 5589; https://doi.org/10.3390/ijms27125589 (registering DOI)
Submission received: 14 May 2026 / Revised: 12 June 2026 / Accepted: 16 June 2026 / Published: 20 June 2026
(This article belongs to the Special Issue Molecular Insights into Chronic Liver Disease and Liver Failure)
Versions Notes

Abstract

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.
Keywords: alpha-1 antitrypsin deficiency; gene expression; liver–lung interactions; Mprocida alpha-1 antitrypsin deficiency; gene expression; liver–lung interactions; Mprocida

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MDPI and ACS Style

Finamore, P.; Santangelo, S.; Gallo, P.; Ferrarotti, I.; Balderacchi, A.M.; Falcomatà, A.; Colombo, D.; Del Nonno, F.; Vespasiani-Gentilucci, U.; Antonelli Incalzi, R.; et al. Hepatic Alpha-1 Antitrypsin Globules in Compound Heterozygous SERPINA1 Variants Previously Considered Non-Polymerizing: A Case Report. Int. J. Mol. Sci. 2026, 27, 5589. https://doi.org/10.3390/ijms27125589

AMA Style

Finamore P, Santangelo S, Gallo P, Ferrarotti I, Balderacchi AM, Falcomatà A, Colombo D, Del Nonno F, Vespasiani-Gentilucci U, Antonelli Incalzi R, et al. Hepatic Alpha-1 Antitrypsin Globules in Compound Heterozygous SERPINA1 Variants Previously Considered Non-Polymerizing: A Case Report. International Journal of Molecular Sciences. 2026; 27(12):5589. https://doi.org/10.3390/ijms27125589

Chicago/Turabian Style

Finamore, Panaiotis, Simona Santangelo, Paolo Gallo, Ilaria Ferrarotti, Alice Maria Balderacchi, Andrea Falcomatà, Daniele Colombo, Franca Del Nonno, Umberto Vespasiani-Gentilucci, Raffaele Antonelli Incalzi, and et al. 2026. "Hepatic Alpha-1 Antitrypsin Globules in Compound Heterozygous SERPINA1 Variants Previously Considered Non-Polymerizing: A Case Report" International Journal of Molecular Sciences 27, no. 12: 5589. https://doi.org/10.3390/ijms27125589

APA Style

Finamore, P., Santangelo, S., Gallo, P., Ferrarotti, I., Balderacchi, A. M., Falcomatà, A., Colombo, D., Del Nonno, F., Vespasiani-Gentilucci, U., Antonelli Incalzi, R., & Scarlata, S. (2026). Hepatic Alpha-1 Antitrypsin Globules in Compound Heterozygous SERPINA1 Variants Previously Considered Non-Polymerizing: A Case Report. International Journal of Molecular Sciences, 27(12), 5589. https://doi.org/10.3390/ijms27125589

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