Introduction: Wilson disease (WD) is a rare autosomal recessive disorder characterized by defective copper metabolism leading to hepatic and neuropsychiatric manifestations. Liver transplantation (LT) remains a critical intervention for patients with acute liver failure (ALF) or end-stage liver disease (ESLD) refractory to medical therapy. The objectives of this study are threefold: first, to ascertain the proportion of patients diagnosed with WD during childhood or adulthood who needed LT; second, to assess the diagnostic delay in both pediatric and adult subgroups; and third, to evaluate the indication for transplantation (acute liver failure vs. end-stage liver disease) in each subgroup.
Methods: A retrospective analysis of all patients diagnosed with WD and those who underwent LT for WD at the AOU Città della Salute e della Scienza di Torino between 1999 and 2024 was performed. The data were retrieved from the medical records. The study population included adult and pediatric patients, with the objective of conducting a comparative analysis of the clinical presentations and outcomes across different age groups. Clinical data including demographic characteristics, presentation, diagnostic delay, indications for LT, and post-transplant outcomes were analyzed.
Results: A total of 66 patients with Wilson Disease were included in the study. Of these, 18 patients (27%) underwent LT. The median age at transplantation was 26.9 years (range: 7.5–52.1), with three pediatric transplants. The median Model for End-Stage Liver Disease (MELD) score was 31; one pediatric patient had a Pediatric End-Stage Liver Disease (PELD) score of 32. Age at diagnosis was significantly higher in transplanted patients (Figure 1). Fifty patients were diagnosed with WD during childhood, with a median follow-up of 15 years (range: 0.9–46.6). In 92% of cases, patients who received a diagnosis in their pediatric years survived with their original liver (figure 1). Notably, transplanted pediatric patients did not have a significant delay in diagnosis, and LT was primarily performed for ALF as the initial presentation of WD. 
The diagnosis of WD in adulthood was made in 16 patients, with a median follow-up of 21.2 years (range: 2.2-45.8). Of these patients, 12 underwent LT and 9 of these 12 patients underwent LT for acute decompensation of the disease. Previous signs of liver disease were present in 7 of the 9 cases, and in one case, WD was already known. In adults, a diagnostic delay of more than two years occurred in 33% of patients requiring LT (Figure 1).
Conclusions: Liver transplantation is a life-saving intervention in acute decompensation of WD and end-stage liver disease, with excellent long-term results. Early diagnosis and timely referral are critical to improve outcomes in WD, particularly in pediatric patients. The significant delay in diagnosis in adults underscores the need for increased awareness of the diverse clinical manifestations of WD.