Late onset fulminant Wilson’s disease:A case report and review of the literature

Wilson’s disease(WD)is an autosomal recessive inherited disorder of hepatic copper metabolism.WD can be present in different clinical conditions,with the most common ones being liver disease and neuropsychiatric disturbances.Most cases present symptoms at<40years of age.However,few reports ex...

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Bibliographic Details
Published in:World journal of gastroenterology : WJG 2014-12, Vol.20 (46), p.17656-17660
Main Authors: Weitzman, Ella, Pappo, Orit, Weiss, Peretz, Frydman, Moshe, Haviv-Yadid, Yael, Ben Ari, Ziv
Format: Article
Language:English
Subjects:
Adenosine Triphosphatases - genetics
Adenosine Triphosphatases - metabolism
Age of Onset
ATP7B
Biopsy
Case Report
Cation Transport Proteins - genetics
Cation Transport Proteins - metabolism
Copper-transporting ATPases
disease
DNA Mutational Analysis
Fatal Outcome
Female
Fulminant
gene
Genetic Predisposition to Disease
Hepatolenticular Degeneration - diagnosis
Hepatolenticular Degeneration - genetics
Hepatolenticular Degeneration - metabolism
Hepatolenticular Degeneration - therapy
Humans
Late
Liver - metabolism
Liver - pathology
Middle Aged
Mutation
onset
Phenotype
Predictive Value of Tests
Time Factors
Wilson’s
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Summary:Wilson’s disease(WD)is an autosomal recessive inherited disorder of hepatic copper metabolism.WD can be present in different clinical conditions,with the most common ones being liver disease and neuropsychiatric disturbances.Most cases present symptoms at<40years of age.However,few reports exist in the literature on patients in whom the disease presented beyond this age.In this report,we present a case of late onset fulminant WD in a 58-year-old patient in whom the diagnosis was established clinically,by genetic analysis of the ATP7B gene disclosing rare mutations(G1099S and c.1707+3ins T)as well as by high hepatic copper content.We also reviewed the relevant literature.The diagnosis of WD with late onset presentation is easily overlooked.The diagnostic features and the geneticbackground in patients with late onset WD are not different from those in patients with early onset WD,except for the age.Effective treatments for this disorder that can be fatal are available and will prevent or reverse many manifestations if the disease is discovered early.
ISSN:1007-9327
2219-2840
DOI:10.3748/wjg.v20.i46.17656