Late-Onset Wilson's Disease

Peter Ferenci, Anna Członkowska, Uta Merle, F. Szalay, Grazyna Gromadzka, Cihan Yurdaydin, Wolfgang Vogel, Radan Bruha, Hartmut T. Schmidt, Wolfgang Stremmel

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Abstract

Background & Aims: The clinical symptoms and age at onset of Wilson's disease (WD) are highly variable. This study investigated patients who became symptomatic at >40 years of age. Methods: Clinical features, laboratory data, and mutation analysis were evaluated in 46 (3.8%) of 1223 patients who were investigated in a multinational study on genotype-phenotype correlations (1053 index patients, 170 siblings) who were >40 years of age at onset of symptoms and, in 2 asymptomatic siblings, diagnosed at >40 years of age. Results: Thirty-one patients presented with neurologic symptoms (mean age, 44.5 years; range, 40-52; male/female, 14/17), 15 presented with liver disease (mean age, 47.1 years; range, 40-58; male/female, 6/9), and 2 were asymptomatic siblings. Hepatic copper content was measured in 17 patients and was above 250 μg/g dry weight in 13. One patient with hepatic presentation had "fulminant" WD, the remaining 14 abnormal liver function tests and/or hepatomegaly. Liver biopsy specimens were available in 13 patients presenting with liver disease (cirrhosis, 10; chronic hepatitis, 2; steatosis, 1; no abnormalities, 1) and in 14 neurologic patients (cirrhosis, 9; advanced fibrosis, 1; chronic hepatitis, 2; no abnormalities, 2). Twenty-seven of the 46 index cases had mutations on both chromosomes (including 13 H1069Q/H1069Q), 13 on just 1 chromosome. Conclusions: Late-onset WD is a frequently overlooked condition. The diagnostic features and the frequency of late-onset WD gene mutations were not different than in patients with an earlier onset of disease. Factors other than ATP7B mutations may modify the phenotypic presentation of WD.

Original languageEnglish
Pages (from-to)1294-1298
Number of pages5
JournalGastroenterology
Volume132
Issue number4
DOIs
Publication statusPublished - Apr 2007

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Hepatolenticular Degeneration
Siblings
Mutation
Chronic Hepatitis
Age of Onset
Liver Diseases
Liver
Fibrosis
Late Onset Disorders
Chromosomes, Human, Pair 13
Hepatomegaly
Chromosomes, Human, Pair 1
Liver Function Tests
Genetic Association Studies
Neurologic Manifestations
Liver Cirrhosis
Nervous System
Copper
Biopsy
Weights and Measures

ASJC Scopus subject areas

  • Gastroenterology

Cite this

Ferenci, P., Członkowska, A., Merle, U., Szalay, F., Gromadzka, G., Yurdaydin, C., ... Stremmel, W. (2007). Late-Onset Wilson's Disease. Gastroenterology, 132(4), 1294-1298. https://doi.org/10.1053/j.gastro.2007.02.057

Late-Onset Wilson's Disease. / Ferenci, Peter; Członkowska, Anna; Merle, Uta; Szalay, F.; Gromadzka, Grazyna; Yurdaydin, Cihan; Vogel, Wolfgang; Bruha, Radan; Schmidt, Hartmut T.; Stremmel, Wolfgang.

In: Gastroenterology, Vol. 132, No. 4, 04.2007, p. 1294-1298.

Research output: Contribution to journalArticle

Ferenci, P, Członkowska, A, Merle, U, Szalay, F, Gromadzka, G, Yurdaydin, C, Vogel, W, Bruha, R, Schmidt, HT & Stremmel, W 2007, 'Late-Onset Wilson's Disease', Gastroenterology, vol. 132, no. 4, pp. 1294-1298. https://doi.org/10.1053/j.gastro.2007.02.057
Ferenci P, Członkowska A, Merle U, Szalay F, Gromadzka G, Yurdaydin C et al. Late-Onset Wilson's Disease. Gastroenterology. 2007 Apr;132(4):1294-1298. https://doi.org/10.1053/j.gastro.2007.02.057
Ferenci, Peter ; Członkowska, Anna ; Merle, Uta ; Szalay, F. ; Gromadzka, Grazyna ; Yurdaydin, Cihan ; Vogel, Wolfgang ; Bruha, Radan ; Schmidt, Hartmut T. ; Stremmel, Wolfgang. / Late-Onset Wilson's Disease. In: Gastroenterology. 2007 ; Vol. 132, No. 4. pp. 1294-1298.
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AU - Yurdaydin, Cihan

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AB - Background & Aims: The clinical symptoms and age at onset of Wilson's disease (WD) are highly variable. This study investigated patients who became symptomatic at >40 years of age. Methods: Clinical features, laboratory data, and mutation analysis were evaluated in 46 (3.8%) of 1223 patients who were investigated in a multinational study on genotype-phenotype correlations (1053 index patients, 170 siblings) who were >40 years of age at onset of symptoms and, in 2 asymptomatic siblings, diagnosed at >40 years of age. Results: Thirty-one patients presented with neurologic symptoms (mean age, 44.5 years; range, 40-52; male/female, 14/17), 15 presented with liver disease (mean age, 47.1 years; range, 40-58; male/female, 6/9), and 2 were asymptomatic siblings. Hepatic copper content was measured in 17 patients and was above 250 μg/g dry weight in 13. One patient with hepatic presentation had "fulminant" WD, the remaining 14 abnormal liver function tests and/or hepatomegaly. Liver biopsy specimens were available in 13 patients presenting with liver disease (cirrhosis, 10; chronic hepatitis, 2; steatosis, 1; no abnormalities, 1) and in 14 neurologic patients (cirrhosis, 9; advanced fibrosis, 1; chronic hepatitis, 2; no abnormalities, 2). Twenty-seven of the 46 index cases had mutations on both chromosomes (including 13 H1069Q/H1069Q), 13 on just 1 chromosome. Conclusions: Late-onset WD is a frequently overlooked condition. The diagnostic features and the frequency of late-onset WD gene mutations were not different than in patients with an earlier onset of disease. Factors other than ATP7B mutations may modify the phenotypic presentation of WD.

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