Diagnostic pitfalls and differential diagnosis of Wilson Disease

This ERN RARE-LIVER Webinar on 15 April 2025 at 5pm (CET) will be a joint webinar with The Chil-dren’s Memorial Heath Institute (Poland), Hôpital Femme Mère Enfant (France) and Aarhus University Hospital (Denmark).

wilson_disease_webinar_info_image.jpg
Back to overview

Please use this link:  https://uke-de.zoom-x.de/j/65289423694?pwd=nyvXTTvE9qt1dtVgyVmQ9R3ljTFMbR.1

Speakers: 

Piotr Socha, The Children’s Memorial Heath Institute (Poland)

Eduardo Couchonnal, Hôpital Femme Mère Enfant (France)

Chair:

Thomas Sandahl, Aarhus University Hospital (Denmark)

Agenda:

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. We propose short presentations and panel discussion. The webinar will discuss:

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

Short bios:

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:

  • 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

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.