Table of Contents Author Guidelines Submit a Manuscript
Canadian Journal of Gastroenterology
Volume 26, Issue 6, Pages 333-339
http://dx.doi.org/10.1155/2012/123431
Original Article

Wilson Disease: Canadian Perspectives on Presentation And Outcomes from an Adult Ambulatory Setting

A Moores,1,2 SH Fox,2 AE Lang,2 and GM Hirschfield1

1Liver Centre, Toronto Western Hospital, Canada
2Division of Neurology, University of Toronto and Movement Disorders Centre, Toronto Western Hospital, University Hospital Network, Toronto, Ontario, Canada

Received 6 July 2011; Accepted 9 September 2011

Copyright © 2012 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.