ArticleGastro hep advances2026
Protein Aggregates in Heterozygous Alpha-1 Antitrypsin Phenotype Is a Marker for Progressive Disease.
Article in Gastro hep advances, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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1 citing paper in PubMed.
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2 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Background and aims: Alpha 1 antitrypsin deficiency (AATD) is a genetic disease caused by mutations in the SERPINA1 gene, leading to liver disease. This study investigates the role of heterozygous Pi∗Z (MZ) alleles and their histopathologic features in liver disease progression. Methods: We extracted data from the Mayo Data Explorer, including noninvasive elastography and diagnostic pathology reports from patients with known AATD phenotypes. We analyzed clinical indices, histopathological features, and transplant-free survival in MZ individuals across Mayo Clinic sites in MN, WI, AZ, and FL. Results: Out of 30,869 individuals with defined phenotypes, 2259 had elastography data. MZ individuals (n = 132) showed higher median liver stiffness (7 kPa) compared to MM individuals (6 kPa, Conclusion: MZ individuals exhibit higher baseline liver stiffness and advanced fibrosis. The presence of PAS-D globules in liver biopsies is associated with more advanced disease and shorter transplant-free survival, highlighting the potential need for targeted therapies in this population.
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