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


CONCLUSIONS
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.
Toronto Western Hospital, Toronto, Ontario.
A
A
Moores
Susan
S
Fox
Anthony
A
Lang
Gideon M
GM
Hirschfield
D000293:Adolescent; D000328:Adult; D000553:Ambulatory Care; D001706:Biopsy; D001927:Brain Diseases / Q000209:etiology; D002170:Canada / Q000453:epidemiology; D002614:Chelating Agents / Q000627:therapeutic use; D002648:Child; D005260:Female; D006527:Hepatolenticular Degeneration / Q000150:complications* / Q000453:epidemiology / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D006975:Hypertension, Portal / Q000209:etiology; D008103:Liver Cirrhosis / Q000209:etiology; D008111:Liver Function Tests; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010396:Penicillamine / Q000627:therapeutic use; D012189:Retrospective Studies; D016896:Treatment Outcome; D015032:Zinc / Q000627:therapeutic use
D002614:Chelating Agents; D010396:Penicillamine; D015032:Zinc