Clinical and Demographic Profile of Wilson Disease in Young Adults: A Retrospective Study at a Tertiary Care Center in Peshawar, Pakistan

Background Wilson disease (WD) is a rare autosomal recessive disorder of copper metabolism and an important treatable cause of hepatic dysfunction in young adults. Data from South Asian populations remains limited. Hence, the current study aimed to assess the demographic characteristics, clinical features, and diagnostic profile of patients with WD presenting at a tertiary care hospital in Peshawar, Pakistan. Methods This retrospective descriptive study was conducted in the Department of Medicine, Hayatabad Medical Complex, Peshawar, between January 2023 and December 2024. Medical records were systematically reviewed to identify all patients diagnosed with WD during this period. 21 patients with a confirmed WD diagnosis based on the modified Leipzig scoring system (score ≥ 4) and complete diagnostic workup were included. Complete diagnostic data was defined as documented serum ceruloplasmin, 24-hour urinary copper excretion, liver function tests, slit-lamp examination for Kayser-Fleischer (KF) rings, and negative screening for viral and autoimmune hepatitis. Demographic, clinical, and biochemical data were extracted from hospital records and analyzed using SPSS version 25. Post-hoc ethical approval was obtained from the institutional review board. Results The mean age at presentation was 23.2 ± 4.8 years (range 18-35), with a male-to-female ratio of 2:1. 15 patients (71.4%) were between 18 and 25 years of age. Jaundice was the predominant symptom, observed in 21 (100%) patients, while hepatomegaly and KF rings were observed in 18 (85.7%) and 12 (57.1%) of patients, respectively. The mean 24-hour urinary copper excretion was 1,450.3 ± 420.7 µg/day, and the mean serum ceruloplasmin level was 8.4 ± 3.2 mg/dL. Four patients (19%) were from two consanguineous families. A positive correlation between urinary copper and total bilirubin levels was observed (r = 0.74, p < 0.001). Conclusion WD in this internal medicine cohort primarily affected young adults presenting with hepatic manifestations, most commonly jaundice. Elevated urinary copper excretion and reduced serum ceruloplasmin levels were consistent diagnostic findings. Familial clustering, particularly in consanguineous families, was also observed, indicating a pattern consistent with autosomal recessive inheritance within this population.