A Discussion on the Management of Wilson Disease

Abstract

Prof Peter Ferenci opened the meeting by providing a background to Wilson disease (WD), an enigmatic condition where no two cases are the same. He explored the aetiology, peak age of presentation, and long-term outlook. Dr Gideon Hirschfield considered the wide variation in WD symptom presentation, the lack of a diagnostic gold standard, and the difficulties around choosing WD endpoints for clinical trials. He went on to consider how study endpoints have evolved over time, and how, in real-life clinical practice, therapies need to be tolerable for patients with negative copper balances. Prof Anil Dhawan focussed on diagnostic challenges in paediatric WD, reviewing the size of liver biopsies needed for measurement of liver copper dry weight, the penicillamine challenge test, and Leipzig scores. Regarding treatment, he stressed that improvements in liver scores take time on chelation therapy, making it important not to rush patients to transplant. Prof Dhawan explored the development of disease severity scores for transplantation, including the revised cut-off points for the Nazer score. He provided reassuring data around the success of living related liver transplantation from parents heterozygous for WD and raised the possibility of auxiliary liver transplants. Prof Karl Heinz Weiss considered three WD cases reflecting different aspects of the condition. The neurological case showed deterioration of neurological symptoms after starting D-penicillamine. This, Prof Weiss speculated, may relate to treatment causing shifts in the copper pool from bound copper to unbound copper. The second case involved a young woman with WD who was planning a pregnancy; Prof Weiss showed the importance of patients remaining with therapies they are used to. Finally, he considered a patient with decompensated cirrhosis referred for liver transplantation but for whom, when reassessed with the modified Nazer score, the level did not indicate the need for transplantation. The patient showed side effects with one treatment but subsequently did well on a second treatment and was delisted for transplant.