From Copper Overload to Recovery: Case Report of Wilson’s Disease

Introduction Wilson’s disease (WD) is a rare autosomal recessive genetic disorder caused by mutations in the ATP7B gene, leading to impaired copper metabolism [1]. Clinical presentations vary widely, ranging from mild symptoms like fatigue to severe complications such as hepatic failure, neurological damage, or psychiatric disturbances. Early diagnosis and tailored treatment are critical for preventing life–threatening complications. This report discusses a 26–year–old WD patient who underwent liver transplantation due to advanced disease, providing insights into the clinical course, treatment challenges, and multidisciplinary care [2]. Case Presentation A 26–year–old male was admitted with fatigue, right upper quadrant discomfort, tremors and jaundice. Neurological examination revealed severe tremors and ataxia, while laboratory tests showed low ceruloplasmin and elevated urinary copper. Diagnostics confirmed afvanced WD and liver cirrhosis (Child–Pugh B, MEDL 21). Initial treatment included D–pencillamine and symptomatic therapies, but poor aderence led to progressive hepatic decompensation, necessitating liver transplantation. Post–surgery, the patient experienced hepatic artery thrombosis and bule duct stricture, requiring reoperation and prolonged rehabilitation. Over time, recurrent cholangitis and abscesses necessitated retransplantation. Eight years post–retransplant, the patient remains stable under immunosupressive therapy. Discussion While chelation therapy is effective in early stages of WD, more difficult cases often necessitate liver transplantation [3]. Tacrolimus is the first-line drug used for long-term immunosuppressive therapy after liver transplantation, yet due to possible neurological complications it is not recommended for patients who had to undergo liver transplantation due to WD [4]. Biliary complications after LT pose a major challenge and commonly presents with cholestasis and cholangitis resulting in repeated therapeutic interventions, and eventually retransplantation [5]. Conclusions This case illustrates the importance of early WD diagnosis and strict adherence to treatment. Liver transplantation can be lifesaving in advanced cases, but comprehensive postoperative care is crucial for improving long–term survival and quality of life.