Z Gastroenterol 2025; 63(01): e31
DOI: 10.1055/s-0044-1801082
Abstracts │ GASL
Poster Visit Session II
CLINICAL HEPATOLOGY, SURGERY, LTX 14/02/2025, 02.20pm – 03.15pm

Unique histological liver phenotype in children and adults with severe alpha-1 antitrypsin deficiency (Pi*ZZ genotype)

Malin Fromme
1   Medical Clinic III, Gastroenterology, Metabolic diseases and Intensive Care, University Hospital RWTH Aachen, Aachen, Germany
,
Marion Bouchecareilh
2   University of Bordeaux, CNRS, INSERM, BRIC, Bordeaux, France
,
Alain Lachaux
3   Department of Paediatric Gastroenterology, Hepatology and Nutrition, Reference Center for Rare Disease – Biliary Atresia And Genetic Cholestasis, Children's Hospital of Lyon, Lyon, France
,
Mousa Mobarki
4   Department of Pathology, Faculty of Medicine, Jazan University, Jazan, Saudi Arabia; Institute of Pathology, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Université Claude Bernard Lyon 1, Lyon, France
,
Sophie Collardeau-Frachon
5   Institute of Pathology, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Université Claude Bernard Lyon 1, Lyon, France
,
Lioara Restier
6   Service de gastro-entérologie, hépatologie et nutrition pédiatriques, hôpital Femme-Mère-Enfant, hospices civils de Lyon, Bron, France
,
Rainer Ganschow
7   Department of Pediatric Gastroenterology and Hepatology, University Hospital of Bonn Children's Hospital, Bonn, Germany
,
Heike Bantel
8   Department of Gastroenterology, Hepatology, Infectious Diseases and Endocrinology, Hannover Medical School (MHH), Hannover, Germany
,
Sabina Janciauskiene
9   Clinic for Pneumology, Medical University Hannover, Hannover, Germany
,
Mattias Mandorfer
10   Division of Gastroenterology and Hepatology, Department of Internal Medicine III, Medical University of Vienna, Vienna, Austria
,
Elmar Aigner
11   First Department of Medicine, Paracelsus Medical University, Salzburg, Austria
,
Ekkehard Sturm
12   Pediatric Gastroenterology and Hepatology, University Children's Hospital Tuebingen, Tuebingen, Germany
,
Matthias Reichert
13   Department of Medicine II, Saarland University Medical Center, Saarland University, Homburg, Germany
,
Georg Vogel
14   Department of Paediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria
,
Jef Verbeek
15   Department of Gastroenterology & Hepatology, KU Leuven University Hospitals, Leuven, Belgium
,
Aleksander Krag
16   Department of Gastroenterology and Hepatology, Odense University Hospital, Odense C, Denmark
,
Piotr Socha
17   The Children's Memorial Health Institute, Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, Al. Dzieci Polskich, Warszawa, Poland
,
Helmut Denk
18   Institute of Pathology, Medical University of Graz, Graz, Austria
,
Mathias Ruiz
19   Hépatologie, Gastroentérologie et Nutrition Pédiatriques, Hôpital Femme Mère Enfant, Hospices civils de Lyon, Lyon, France
,
Pavel Strnad
1   Medical Clinic III, Gastroenterology, Metabolic diseases and Intensive Care, University Hospital RWTH Aachen, Aachen, Germany
› Author Affiliations
› Further Information
Also available ateRef
 
 

    Aims/objectives: Liver disease in severe alpha-1 antitrypsin (AAT) deficiency (Pi*ZZ genotype) displays a biphasic pattern with the first peak in early childhood and the second, adult peak after the age of 40 years. Our aim was to histologically characterize the pediatric and adult liver disease.

    Methods: We recruited 67 adults and 48 Pi*ZZ children aged four weeks to 17 years from six countries who underwent a liver biopsy/transplantation. A blind histological scoring was performed by two histopathologists.

    Results: Pediatric Pi*ZZ samples originated more often from liver transplantation (64.6 vs. 21.2%, p<.0001) and children displayed significantly higher liver enzymes than adults. Compared to adults, children presented a significantly higher fibrosis stage according to METAVIR (4.0 vs. 2.5, p<.0001). Pi*ZZ adults more frequently had higher liver steatosis, while bile plugs and duct paucity were significantly more common in Pi*ZZ children (bile plugs: 43.8 vs. 10.4%, p<.0001; duct paucity 58.3 vs. 1.5%, p<.0001). No difference in AAT accumulation (Clark) was found. When subdividing the pediatric cohort based on age (<1 year, 1-5 years and 6-17 years), cirrhosis was more common in both older age groups than in younger children (64.7 vs. 75.0 vs. 30.8%, p=.045). There were no differences in liver steatosis, inflammation, or cholestasis parameters, but youngest children displayed less AAT accumulation and less frequently had larger aggregates.

    Conclusions: Our study reveals unique histological patterns in Pi*ZZ children and adults thereby providing basis for patient counseling and further mechanistic studies.


     

    Publication History

    Article published online:
    20 January 2025

    © 2025. Thieme. All rights reserved.

    Georg Thieme Verlag KG
    Oswald-Hesse-Straße 50, 70469 Stuttgart, Germany