Wilson disease: Canadian perspectives on presentation and outcomes from an adult ambulatory setting

Abstract

Background: Wilson disease (WD) is a rare disorder of copper metabolism.

Objective: To describe the authors' clinical experience with a cohort of 48 adult patients followed in an ambulatory setting.

Methods: A retrospective chart review of patients with a diagnosis of WD was performed.

Results: Fifty-nine charts were identified and 11 were excluded on further review. At diagnosis, 14 patients were asymptomatic, with 13 hepatic, 15 neurological and six mixed hepatic⁄neurological presentations. Ceruloplasmin levels were low (<0.20 g⁄L) in 94%, and 24 h urinary copper levels high (>0.60 µmol⁄L) in 95% of cases. D-penicillamine was the most common initial therapy (48%), with zinc the most common at review (65%). Overall, biopsy and ultrasound reports documented cirrhosis in 53%. Portal hypertension, defined as splenomegaly (>12.0 cm), reversed portal venous flow on ultrasound or varices⁄gastropathy on endoscopy was seen in 63%. At last review, 39% had elevated aspartate aminotransferase (>34 U⁄L) and⁄or alanine aminotransferase levels (>40 U⁄L). One death and one transplant occurred, while three patients had encephalopathy, two became jaundiced, two developed ascites and one experienced variceal bleed. Of 21 neurological presenting patients, 14 improved compared with baseline, with four making almost complete recovery. Eleven patients experienced documented episodes of neurological decline, including four with non-neurological presentation. Diagnostic magnetic resonance imaging showed basal ganglia (64%), brainstem (64%) abnormalities and atrophy (36%); follow-up showed basal ganglia lesions (50%) and atrophy (55%).

Conclusion: WD is a diverse chronic disease with generally favourable outcomes for patients who respond to initial therapy, which can be managed predominantly in an ambulatory setting.

Figure 1)

Flow chart depicting the methodology used to determine inclusion in the study based on Leipzig criteria and our division of charts into groups based on presentation type. LC Liver Centre; LS Leipzig score; MDC Movement Disorders Centre; WD Wilson disease

Figure 2)

Presenting hepatic (A) and neurological symptoms (B) for patients who had hepatic and mixed (n=20), and neurological and mixed (n=21) presentations, respectively