Alpha-1-Antitrypsin Deficiency
Leads
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Pavel Strnad
- Alpha-1 Antitrypsin Liver Disease (AATD)
University Hospital Aachen, Germany
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Frank Willersinn
- Alpha-1 Antitrypsin Liver Disease (AATD)
Alpha-1 Plus asbl, Belgium
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Dr. Mathias Ruiz, MD
Pediatric hepatologist, gastroenterologist
About the Working Group
The Alpha-1-Antitrypsin Deficiency (AATD) Working Group brings together adult and paediatric hepatologists, researchers and patient representatives with expertise in AATD-related liver disease.
Alpha-1-antitrypsin deficiency is an inherited genetic condition that can affect both the liver and lungs. Severe forms, particularly the Pi*ZZ genotype, can lead to liver disease in children and adults, including neonatal cholestasis, fibrosis, cirrhosis and liver cancer risk in advanced disease. Because AATD affects patients across the life course, the Working Group has an important role in linking paediatric and adult care, clinical research, patient information and education.
The Working Group aims to improve diagnosis, monitoring, patient counselling, clinical management, research collaboration and patient-facing information across Europe.
Get Involved
Clinicians, researchers, junior professionals, patient representatives and patient organisations interested in AATD-related liver disease are welcome to become involved in the Working Group.
The group works on research, education, patient information, pathway development, paediatric and adult care, and emerging treatment strategies.
For more information or to join the Working Group, please contact the ERN RARE-LIVER Coordination Office.
Working Group interest form:
https://ec.europa.eu/eusurvey/runner/ERN_LIVER_WorkingGroups