Long-term outcomes of patients with Wilson disease in a large Austrian cohort.

Abstract

BACKGROUND & AIMS:

Wilson disease is an autosomal recessive disorder that affects copper metabolism, leading to copper accumulation in liver, central nervous system, and kidneys. There are few data on long-term outcomes and survival from large cohorts; we studied these features in a well-characterized Austrian cohort of patients with Wilson disease.

METHODS:

We analyzed data from 229 patients diagnosed with Wilson disease from 1961 through 2013; 175 regularly attended a Wilson disease outpatient clinic and/or their physicians were contacted for information on disease and treatment status and outcomes. For 53 patients lost during the follow-up period, those that died and reasons for their death were identified from the Austrian death registry.

RESULTS:

The mean observation period was 14.8 ± 11.4 years (range, 0.5-52.0 years), resulting in 3116 patient-years. Of the patients, 61% presented with hepatic disease, 27% with neurologic symptoms, and 10% were diagnosed by family screening at presymptomatic stages. Patients with a hepatic presentation were diagnosed younger (21.2 ± 12.0 years) than patients with neurologic disease (28.8 ± 12.0; P < .001). In 2% of patients, neither symptoms nor onset of symptoms could be determined with certainty. Most patients stabilized (35%) or improved on chelation therapy (26% fully recovered, 24% improved), but 15% deteriorated; 8% required a liver transplant, and 7.4% died within the observation period (71% of deaths were related to Wilson disease). A lower proportion of patients with Wilson disease survived for 20 years (92%) than healthy Austrians (97%), adjusted for age and sex (P = .03). Cirrhosis at diagnosis was the best predictor of death (odds ratio, 6.8; 95% confidence interval, 1.5-31.03; P = .013) and need for a liver transplant (odds ratio, 07; 95% confidence interval, 0.016-0.307; P < .001). Only 84% of patients with cirrhosis survived 20 years after diagnosis (compared with healthy Austrians, P =.008).

CONCLUSION:

Overall, patients who receive adequate care for Wilson disease have a good long-term prognosis. However, cirrhosis increases the risk of death and liver disease. Early diagnosis, at a precirrhotic stage, might increase survival times and reduce the need for a liver transplant.

• Authors: Sandra Beinhardt, Waltraud Leiss, Albert Friedrich Stättermayer, Ivo Graziadei, Heinz Zoller, Rudolf Stauber, Andreas Maieron, Christian Datz, Petra Steindl-Munda, Harald Hofer, Wolfgang Vogel, Michael Trauner, Peter Ferenci
• Journal: Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association (Clin Gastroenterol Hepatol) Vol. 12 Issue 4 Pg. 683-9 (Apr 2014) ISSN: 1542-7714 [Electronic] United States
• PMID: 24076416 (Publication Type: Journal Article)
• Copyright: Copyright © 2014 AGA Institute. Published by Elsevier Inc. All rights reserved.

Topics

• Adolescent
• Adult
• Austria (epidemiology)
• Child
• Child, Preschool
• Female
• Hepatolenticular Degeneration (epidemiology, mortality)
• Humans
• Male
• Middle Aged
• Prognosis
• Retrospective Studies
• Survival Analysis
• Treatment Outcome
• Young Adult