S5517 A Rare Case of Wilson Disease Relapse in a Transplanted Liver

Introduction: Wilson Disease (WD) is an inherited disorder that shows an autosomal recessive pattern of inheritance and is characterized by the accumulation of excess copper in multiple organs, notably the liver and brain. Liver transplantation (LT) is a life-saving and definitive treatment for severe cases of WD, facilitating the restoration of hepatic metabolic defects and alleviating portal hypertension. While the long-term results of transplantation are generally excellent, recurrence of the disease is exceedingly rare. Case Description/Methods: A 25-year-old woman with a medical history of Wilson disease since 2014 presented with acute on chronic liver failure (ACLF). She successfully underwent living-donor liver transplantation (LDLT) receiving the liver from her father. The patient was regularly followed up for 18 months post-transplant and required repeating endoscopic retrograde cholangiopancreatography (ERCP) procedures due to biliary anastomosis strictures. She continued follow-up care at a different facility between 2021 and 2023, where her medication regimen included tacrolimus and mycophenolate mofetil. Upon returning to our clinic in 2023, she was found to have recurrent cirrhosis (Child-Pugh A), despite normal biliary imaging. Laboratory tests aimed at determining the etiology revealed low serum ceruloplasmin (0.163 g/L) and elevated 24-hour urinary copper excretion (77.5 μg/24 h), which was further confirmed by a penicillamine challenge test that showed a significantly elevated 24-hour urinary copper excretion of 495 μg/24 h. No other findings were noted. The biopsy revealed remarkable copper accumulation, with a hepatic copper concentration of 534 μg/g dry liver (normal range: 10-35 μg/g), consistent with a recurrence of Wilson disease. Liver biopsy demonstrated copper accumulation, with hepatocytes showing marked cytoplasmic copper deposition. Genetic testing revealed heterozygous mutations in ATP7B (c.1847G > A and c.2906G > A) in the patient and heterozygosity for ATP7B (c.2906G > A) in the donor. Discussion: Previous studies have shown that liver transplants from heterozygous carries are safe and effective in restoring copper metabolism. However, our case emphasizes the need for close and continuous follow-up, even when the donor is a heterozygous carrier, as it may still pose a risk for disease recurrence. Our report also highlights the need for further research to investigate the mechanisms behind Wilson disease recurrence in such rare scenarios.