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

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)


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


600 Technology > 610 Medicine & health








Patricia Rajaonina

Date Deposited:

16 Apr 2015 10:27

Last Modified:

09 Nov 2015 10:52

Publisher DOI:


PubMed ID:


Uncontrolled Keywords:

Genetic Liver Disease, Inherited Liver Disease, Mortality, Population





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