Beinhardt, Sandra; Leiss, Waltraud; Stättermayer, Albert Friedrich; Graziadei, Ivo; Zoller, Heinz; Stauber, Rudolf; Maieron, Andreas; Datz, Christian; Steindl-Munda, Petra; Hofer, Harald; Vogel, Wolfgang; Trauner, Michael; Ferenci, Peter (2014). Long-term outcomes of patients with Wilson disease in a large Austrian cohort. Clinical gastroenterology and hepatology, 12(4), pp. 683-689. Elsevier 10.1016/j.cgh.2013.09.025
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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.
Item Type: |
Journal Article (Original Article) |
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Division/Institute: |
04 Faculty of Medicine > Department of General Internal Medicine (DAIM) > Clinic of General Internal Medicine 04 Faculty of Medicine > Department of General Internal Medicine (DAIM) > Clinic of General Internal Medicine > Centre of Competence for General Internal Medicine |
UniBE Contributor: |
Leiss, Waltraud |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
1542-3565 |
Publisher: |
Elsevier |
Language: |
English |
Submitter: |
Patricia Rajaonina |
Date Deposited: |
16 Apr 2015 10:27 |
Last Modified: |
05 Dec 2022 14:45 |
Publisher DOI: |
10.1016/j.cgh.2013.09.025 |
PubMed ID: |
24076416 |
Uncontrolled Keywords: |
Genetic Liver Disease, Inherited Liver Disease, Mortality, Population |
BORIS DOI: |
10.7892/boris.66845 |
URI: |
https://boris.unibe.ch/id/eprint/66845 |