ArticleUnited European gastroenterology journal2018
Liver disease in adults with α1-antitrypsin deficiency.
Article in United European gastroenterology journal, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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13 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Meta-analysis: Prevalence of significant or advanced fibrosis in adults with alpha-1-antitrypsin deficiency.Alimentary pharmacology & therapeutics · 2023Pooled it
- Clinical Utility of Non-Invasive Tests for Liver Fibrosis in People Living With Alpha-1 Antitrypsin Deficiency.Liver international : official journal of the International Association for the Study of the Liver · 2025Review
- Underdiagnosis of Alpha-1 Antitrypsin Deficiency in Cirrhotic Liver Transplant Candidates: Findings From a Multicenter Retrospective Study.Alimentary pharmacology & therapeutics · 2025Article
- The impact of diagnostic delay on survival in alpha-1-antitrypsin deficiency: results from the Austrian Alpha-1 Lung Registry.Respiratory research · 2023Article
- Phenome-Wide Association Analysis Reveals Novel Links Between Genetically Determined Levels of Liver Enzymes and Disease Phenotypes.Phenomics (Cham, Switzerland) · 2022Article
- Alpha-1 antitrypsin (AAT) augmentation therapy in individuals with the PI*MZ genotype: a pro/con debate on a working hypothesis.BMC pulmonary medicine · 2021Review
- PNPLA3 and SERPINA1 Variants Are Associated with Severity of Fatty Liver Disease at First Referral to a Tertiary Center.Journal of personalized medicine · 2021Article
- Liver disease with unknown etiology - have you ruled out alpha-1 antitrypsin deficiency?Therapeutic advances in chronic disease · 2021Review
- Serum Levels of Glutamate-Pyruvate Transaminase, Glutamate-Oxaloacetate Transaminase and Gamma-Glutamyl Transferase in 1494 Patients with Various Genotypes for the Alpha-1 Antitrypsin Gene.Journal of clinical medicine · 2020Article
- Working Up an Incidental Finding of Hepatic Steatosis on Imaging.Clinical liver disease · 2020Review
- Non-Invasive Assessment and Management of Liver Involvement in Adults With Alpha-1 Antitrypsin Deficiency.Chronic obstructive pulmonary diseases (Miami, Fla.) · 2020Review
- Clinical considerations in individuals with αThe European respiratory journal · 2020Review
- Impact of HSD17B13 rs72613567 genotype on hepatic decompensation and mortality in patients with portal hypertension.Liver international : official journal of the International Association for the Study of the Liver · 2020Article
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe natural history of adult liver disease due to α1-antitrypsin deficiency (A1AD) remains poorly understood.
objectiveWe investigated whether heterozygosity for the Z-allele predisposes for the development of clinically significant portal hypertension (CSPH). Moreover, we aimed to non-invasively assess the prevalence of liver fibrosis and hepatic steatosis in adults with A1AD treated by pulmonologists.
methodsSERPINA1 rs28929474 (Z-allele) was genotyped in 315 patients with CSPH (hepatic venous pressure gradient ≥10 mmHg; cases) and 248 liver donors (controls). In addition, 31 adults with A1AD (Pi*ZZ/Pi*SZ) and 11 first-degree relatives (Pi*MZ/Pi*MS) underwent liver stiffness and controlled attenuation parameter (CAP) measurement.
resultsHeterozygosity for the Z-allele was observed in 6.7% of patients with CSPH and 2.8% of liver donors. Thus, harboring the Z-allele was associated with increased odds of CSPH (odds ratio: 2.47; 95% confidence interval: 1.03-5.9;
conclusionsHeterozygosity for the Z-allele 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 ≥F3 during adulthood; however, liver fibrosis ≥F2 is common. Elevated CAP values hint at underlying hepatic steatosis, which might promote liver fibrosis progression.
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