Background: Wilson disease (WD) is a rare disease wherein copper accumulates in tissues, leading to hepatic degeneration, neurological impairments, and psychiatric symptoms. This study aimed to characterize the experiences of patients with Wilson Disease (WD) and develop a conceptual model containing key symptoms and impacts of the disease.

Results: A targeted literature review was conducted to develop a preliminary conceptual model of Wilson Disease (WD) that was subsequently refined through one-on-one interviews with 3 Wilson Disease (WD) clinicians and finalized following concept elicitation interviews with 11 patients and 11 caregivers. The literature review returned 20 articles, from which 35 concepts (25 signs/symptoms and 10 impacts) were selected for inclusion in the preliminary conceptual model. After interviews with clinicians, the model was expanded to include 25 signs/symptoms and 10 impacts. The final comprehensive conceptual model developed after interviews with patients included 54 symptoms in total (n = 22 hepatic, n = 19 neurological, n = 13 psychiatric), and 21 impacts. Across symptoms, patients reported a high level of bother, with approximately 49% of symptoms reported by patients having an average peak bother rating of ≥ 7 out of 10 (10 = most bothersome). Patient interviews identified 2 subgroups of patients: those who experience neurological, psychiatric, and hepatic symptoms and those who experience mostly hepatic and some psychiatric symptoms, but no neurological symptoms.

Conclusions: This research underscores the substantial multisystem symptoms and impacts that patients with Wilson Disease (WD) describe as highly bothersome in their lives. Hepatic symptoms emerged as especially common and important to patients with Wilson Disease (WD), possibly beyond what is commonly understood in research and clinical practice. Further, the description of 2 distinct patient groups may help to inform patient management and support more targeted drug development processes neurological symptoms.

Keywords: Wilson Disease, Hepatolenticular degeneration, Liver Transplant, Neurological impairments, Psychiatric issues.