Alcohol consumption and liver phenotype of individuals with alpha-1 antitrypsin deficiency.

SERPINA1 FibroScan Pi*Z alcohol liver cirrhosis liver fibrosis

Journal

Liver international : official journal of the International Association for the Study of the Liver
ISSN: 1478-3231
Titre abrégé: Liver Int
Pays: United States
ID NLM: 101160857

Informations de publication

Date de publication:
19 Jul 2024
Historique:
revised: 11 06 2024
received: 18 03 2024
accepted: 09 07 2024
medline: 20 7 2024
pubmed: 20 7 2024
entrez: 20 7 2024
Statut: aheadofprint

Résumé

Alpha-1 antitrypsin deficiency is an inherited disorder caused by alpha-1 antitrypsin (AAT) mutations. We analysed the association between alcohol intake and liver-related parameters in individuals with the heterozygous/homozygous Pi*Z AAT variant (Pi*MZ/Pi*ZZ genotype) found in the United Kingdom Biobank and the European Alpha1 liver consortium. Reported alcohol consumption was evaluated in two cohorts: (i) the community-based United Kingdom Biobank (17 145 Pi*MZ, 141 Pi*ZZ subjects, and 425 002 non-carriers [Pi*MM]); and (ii) the European Alpha1 liver consortium (561 Pi*ZZ individuals). Cohort (ii) included measurements of carbohydrate-deficient transferrin (CDT). In both cohorts, no/low alcohol intake was reported by >80% of individuals, while harmful consumption was rare (~1%). Among Pi*MM and Pi*MZ individuals from cohort (i), moderate alcohol consumption resulted in a <30% increased rate of elevated transaminases and ~50% increase in elevated gamma-glutamyl transferase values, while harmful alcohol intake led to an at least twofold increase in the abnormal levels. In Pi*ZZ individuals from both cohorts, moderate alcohol consumption had no marked impact on serum transaminase levels. Among Pi*ZZ subjects from cohort (ii) who reported no/low alcohol consumption, those with increased CDT levels more often had signs of advanced liver disease. Pi*MZ/Pi*ZZ genotype does not seem to markedly aggravate the hepatic toxicity of moderate alcohol consumption. CDT values might be helpful to detect alcohol consumption in those with advanced fibrosis. More data are needed to evaluate the impact of harmful alcohol consumption.

Sections du résumé

BACKGROUND AND AIMS OBJECTIVE
Alpha-1 antitrypsin deficiency is an inherited disorder caused by alpha-1 antitrypsin (AAT) mutations. We analysed the association between alcohol intake and liver-related parameters in individuals with the heterozygous/homozygous Pi*Z AAT variant (Pi*MZ/Pi*ZZ genotype) found in the United Kingdom Biobank and the European Alpha1 liver consortium.
METHODS METHODS
Reported alcohol consumption was evaluated in two cohorts: (i) the community-based United Kingdom Biobank (17 145 Pi*MZ, 141 Pi*ZZ subjects, and 425 002 non-carriers [Pi*MM]); and (ii) the European Alpha1 liver consortium (561 Pi*ZZ individuals). Cohort (ii) included measurements of carbohydrate-deficient transferrin (CDT).
RESULTS RESULTS
In both cohorts, no/low alcohol intake was reported by >80% of individuals, while harmful consumption was rare (~1%). Among Pi*MM and Pi*MZ individuals from cohort (i), moderate alcohol consumption resulted in a <30% increased rate of elevated transaminases and ~50% increase in elevated gamma-glutamyl transferase values, while harmful alcohol intake led to an at least twofold increase in the abnormal levels. In Pi*ZZ individuals from both cohorts, moderate alcohol consumption had no marked impact on serum transaminase levels. Among Pi*ZZ subjects from cohort (ii) who reported no/low alcohol consumption, those with increased CDT levels more often had signs of advanced liver disease.
CONCLUSIONS CONCLUSIONS
Pi*MZ/Pi*ZZ genotype does not seem to markedly aggravate the hepatic toxicity of moderate alcohol consumption. CDT values might be helpful to detect alcohol consumption in those with advanced fibrosis. More data are needed to evaluate the impact of harmful alcohol consumption.

Identifiants

DOI: 10.1111/liv.16044 PMID: 39031304
pubmed: 39031304
doi: 10.1111/liv.16044
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© 2024 The Author(s). Liver International published by John Wiley & Sons Ltd.

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Auteurs

Malin Fromme (M)

Medical Clinic III, Gastroenterology, Metabolic Diseases and Intensive Care, University Hospital RWTH Aachen, Health Care Provider of the European Reference Network on Rare Liver Disorders (ERN RARE LIVER), Aachen, Germany.
ORCID: 0000-0003-0382-5705

Carolin V Schneider (CV)

Medical Clinic III, Gastroenterology, Metabolic Diseases and Intensive Care, University Hospital RWTH Aachen, Health Care Provider of the European Reference Network on Rare Liver Disorders (ERN RARE LIVER), Aachen, Germany.
ORCID: 0000-0002-6728-9246

Nurdan Guldiken (N)

Medical Clinic III, Gastroenterology, Metabolic Diseases and Intensive Care, University Hospital RWTH Aachen, Health Care Provider of the European Reference Network on Rare Liver Disorders (ERN RARE LIVER), Aachen, Germany.

Samira Amzou (S)

Medical Clinic III, Gastroenterology, Metabolic Diseases and Intensive Care, University Hospital RWTH Aachen, Health Care Provider of the European Reference Network on Rare Liver Disorders (ERN RARE LIVER), Aachen, Germany.

Yizhao Luo (Y)

Medical Clinic III, Gastroenterology, Metabolic Diseases and Intensive Care, University Hospital RWTH Aachen, Health Care Provider of the European Reference Network on Rare Liver Disorders (ERN RARE LIVER), Aachen, Germany.

Monica Pons (M)

Liver Unit, Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute (VHIR), Universitat Autonoma de Barcelona, Barcelona, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Instituto de Salud Carlos III, Madrid, Spain.
ORCID: 0000-0002-0985-3320

Joan Genesca (J)

Liver Unit, Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute (VHIR), Universitat Autonoma de Barcelona, Barcelona, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Instituto de Salud Carlos III, Madrid, Spain.

Marc Miravitlles (M)

Department of Pneumology, Vall d'Hebron University Hospital, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Health Care Provider of the European Reference Network on Rare Lung Disorders (ERN LUNG), Barcelona, Spain.

Katrine H Thorhauge (KH)

Department of Gastroenterology and Hepatology, Odense University Hospital, Odense C, Denmark.
Department of Clinical Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.
ORCID: 0000-0003-0411-0373

Mattias Mandorfer (M)

Division of Gastroenterology and Hepatology, Department of Internal Medicine III, Medical University of Vienna, Health Care Provider of the European Reference Network on Rare Liver Disorders (ERN RARE LIVER), Vienna, Austria.
ORCID: 0000-0003-2330-0017

Johan Waern (J)

Department of Medicine, Gastroenterology and Hepatology Unit, Sahlgrenska University Hospital, Health Care Provider of the European Reference Network on Rare Liver Disorders (ERN RARE LIVER), Gothenburg, Sweden.
ORCID: 0000-0002-4481-3412

Kai Markus Schneider (KM)

Medical Clinic III, Gastroenterology, Metabolic Diseases and Intensive Care, University Hospital RWTH Aachen, Health Care Provider of the European Reference Network on Rare Liver Disorders (ERN RARE LIVER), Aachen, Germany.

Jan Sperl (J)

Department of Hepatogastroenterology, Institute for Clinical and Experimental Medicine, Health Care Provider of the European Reference Network on Rare Liver Disorders (ERN RARE LIVER), Prague, Czech Republic.

Sona Frankova (S)

Department of Hepatogastroenterology, Institute for Clinical and Experimental Medicine, Health Care Provider of the European Reference Network on Rare Liver Disorders (ERN RARE LIVER), Prague, Czech Republic.

Marc Bartel (M)

Institute of Forensic and Traffic Medicine, Heidelberg University Hospital, Heidelberg, Germany.

Holger Zimmer (H)

Department of Internal Medicine I and Clinical Chemistry, Heidelberg University Hospital, Heidelberg, Germany.

Markus Zorn (M)

Department of Internal Medicine I and Clinical Chemistry, Heidelberg University Hospital, Heidelberg, Germany.

Aleksander Krag (A)

Department of Gastroenterology and Hepatology, Odense University Hospital, Odense C, Denmark.
Department of Clinical Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.

Alice Turner (A)

Institute of Applied Health Research, University of Birmingham, Birmingham, UK.

Christian Trautwein (C)

Medical Clinic III, Gastroenterology, Metabolic Diseases and Intensive Care, University Hospital RWTH Aachen, Health Care Provider of the European Reference Network on Rare Liver Disorders (ERN RARE LIVER), Aachen, Germany.
ORCID: 0000-0003-2762-8247

Pavel Strnad (P)

Medical Clinic III, Gastroenterology, Metabolic Diseases and Intensive Care, University Hospital RWTH Aachen, Health Care Provider of the European Reference Network on Rare Liver Disorders (ERN RARE LIVER), Aachen, Germany.
ORCID: 0000-0002-7122-6379

Classifications MeSH