Long-term Outcomes of Patients With Wilson Disease in a Large Austrian Cohort

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• 作者：Sandra Beinhardt^&lowast ; ; Waltraud Leiss^&Dagger ; ; Albert Friedrich St&auml ; ttermayer^&lowast ; ; Ivo Graziadei^§ ; ; Heinz Zoller^§ ; ; Rudolf Stauber^鈥?/sup> ; Andreas Maieron^¶ ; ; Christian Datz^# ; Petra Steindl-Munda^&lowast ; ; Harald Hofer^&lowast ; ; Wolfgang Vogel^§ ; ; Michael Trauner^&lowast ; ; Peter Ferenci^&lowast ; ; ^{peter.ferenci@meduniwien.ac.at" class="auth_mail}
• 关键词：Genetic Liver Disease ; Inherited Liver Disease ; Mortality ; Population
• 刊名：Clinical Gastroenterology and Hepatology
• 出版年：April, 2014
• 年：2014
• 卷：12
• 期：4
• 页码：683-689
• 全文大小：705 K

文摘

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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 卤 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 卤 12.0 years) than patients with neurologic disease (28.8 卤 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.