Description

This webinar was held on 15 April 2025.

The major challenge for primary care physicians and experts is making diagnosis of Wilson disease. Genetics helps but access to molecular diagnosis is limited to cases after selection based on biochemical findings and acute liver failure requires immediate diagnosis. There is also risk to confuse WD with AIH. Therefore, presentation of diagnostic approach for chronic and acute liver disease should be discussed. 

The webinar discusses:

  • Diagnostic challenges in WD
  • Pediatric difficulties 
  • False positives and False negatives
  • Atypical clinical presentations
  • Genetics and Wilson disease 
  • Differential diagnosis

Chair

  
Thomas Sandahl

 

Thomas Damgaard Sandahl, MD, is an Associate Professor at Aarhus University Hospital and a Consultant Hepatologist at the Danish Center for Wilson Disease in Aarhus. Specialising in Hepatology and Gastroenterology, he has significant experience in treating hepatic and gastrointestinal disorders, including Wilson’s Disease. Dr. Sandahl is co-lead in the ERN Rare Liver Wilson Disease Work Group, integrates research findings into clinical practice, and participates in national and international clinical trials, contributing extensively to the medical community’s understanding of Wilson’s Disease.

 

Speakers

  
Piotr Socha

Piotr Socha is a Professor of Pediatrics & Gastroenterology in the Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics and the Deputy Director for Research in The Children’ s Memorial Health Insitute (CMHI) in Warsaw which is the referral pediatric hospital for Poland. His research and clinical work were mainly devoted to cholestatic liver disease, non-alcoholic fatty liver disease, rare metabolic liver diseases (eg. Wilson disease, newly described PGM-1), nutrition in hepatology and gastroenterology (eg. LCPUFA deficiency), obesity prevention and therapy, feeding disorders, protracted diarrhea and inflammatory bowel disease of infancy and early childhood. Piotr Socha was the chair of the Hepatology Committee of ESPGHAN (2010-2013) and the Scientific Secretary of ESPGHAN (2015-2018). Piotr Socha contributes/contributed to 8 EU projects (CHOP, EUROWILSON, EARNEST, PERFECT, NUTRIMENTHE, TOYBOX, EARLY NUTRITION; Kids4Life). He was the president of the Polish Society for Pediatric Gastroenterology, Hepatology and Nutrition. He published ca 500 peer reviewed papers (180 indexed in PubMed) and contributed to 40 book chapters. 
Eduardo Couchonnal

Eduardo Couchonnal: 

  • 2002 – 2007 Medical School. Faculty of Medical Sciences at Universidad Nacional de Asunción (Paraguay)
  • 2009-2012: Pediatric residency. Faculty of Medical Sciences at Universidad Nacional de Asunción (Paraguay) November
  • 2014 – October 2016: Fellowship in the Gastroenterology and endoscopy unit, pavilion L, Edouard Herriot Hospital, Lyon, France.
  • November 2016 – August 2018: Fellowship in the Pediatric Hepato-Gastroenterology and Nutrition Unit, Hôpital Femme Mère Enfant de Lyon, Hospices Civils de Lyon, Bron, France
  • Since September 2018: French National Reference Centre for Wilson’s Disease, Hôpital Femme Mère Enfant de Lyon, Hospices Civils de Lyon, Bron, France

 

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