Case Report: α1-antitrypsin deficiency causing persistent pleural effusion and multilobar alveolar emphysema in a young dog

Alpha-1 antitrypsin deficiency (A1ATD) is a rare genetic condition in both humans and animals, caused by mutations in the SERPINA1 gene that lead to reduced or absent production of alpha-1 antitrypsin (A1AT). This case report describes a 3-year-old male dog presenting with persistent pleural effusion, chronic nonproductive cough, and respiratory distress. Despite an extensive diagnostic evaluation that included computed tomography (CT), a definitive diagnosis of A1ATD was only reached after a histopathological examination of lung tissue, which revealed acinar emphysema characterized by the destruction of alveolar walls. Serum A1AT levels were undetectable, confirming the diagnosis. The absence of liver involvement aligned with the lung-predominant phenotype described in human A1ATD. This is the first reported case of A1ATD-associated emphysema and pleural effusion in a dog, emphasizing the need for further research into its pathophysiology, diagnosis, and management in canine patients.

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Journal
Frontiers in Veterinary Science
Published
2025-10-28
DOI
https://doi.org/10.3389/fvets.2025.1678702
Primary Topic
Protease and Inhibitor Mechanisms
Type
article
Field-Weighted Citation Impact
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article

Case Report: α1-antitrypsin deficiency causing persistent pleural effusion and multilobar alveolar emphysema in a young dog

Iwan A. Burgener, Christof Bertram, Brigitte Degasperi, Sibylle Kneissl et al.
Frontiers in Veterinary Science
Protease and Inhibitor Mechanisms
article

Case Report: α1-antitrypsin deficiency causing persistent pleural effusion and multilobar alveolar emphysema in a young dog

Iwan A. Burgener, Christof Bertram, Brigitte Degasperi, Sibylle Kneissl, Pavlos G. Doulidis, Reinhard Hirt, Nicole Luckschander‐Zeller, Olivia Mariel Grünzweil, Carolina Frizzo-Ramos
article en

Abstract

Alpha-1 antitrypsin deficiency (A1ATD) is a rare genetic condition in both humans and animals, caused by mutations in the SERPINA1 gene that lead to reduced or absent production of alpha-1 antitrypsin (A1AT). This case report describes a 3-year-old male dog presenting with persistent pleural effusion, chronic nonproductive cough, and respiratory distress. Despite an extensive diagnostic evaluation that included computed tomography (CT), a definitive diagnosis of A1ATD was only reached after a histopathological examination of lung tissue, which revealed acinar emphysema characterized by the destruction of alveolar walls. Serum A1AT levels were undetectable, confirming the diagnosis. The absence of liver involvement aligned with the lung-predominant phenotype described in human A1ATD. This is the first reported case of A1ATD-associated emphysema and pleural effusion in a dog, emphasizing the need for further research into its pathophysiology, diagnosis, and management in canine patients.

Frontiers in Veterinary ScienceVol. 12
University of Veterinary Medicine Vienna (AT)
Veterinärmedizinische Universität Wien
Openalex Percentile: Top 62%
Protease and Inhibitor Mechanisms
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