A patient with Wilson's disease may present with hepatobiliary disease. Hepatobiliary disease is a common presentation for children, adolescents and young adults with Wilson's disease.
Acute presentations:
(1) acute fulminant hepatitis
(2) acute hepatitis mimicing drug or viral hepatitis
(3) acute hepatitis mimicing autoimmune hepatitis
(4) acute cholelithiasis
Chronic presentations:
(1) chronic hepatitis
(2) cirrhosis with portal hypertension
(3) recurrent episodes of jaundice
(4) chronic cholelithiasis/cholecystitis associated with chronic hemolytic anemia
Reasons to consider Wilson's disease:
(1) young age at onset
(2) family history of Wilson's disease
(3) exclusion of drug, viral and autoimmune causes
(4) other manifestations of Wilson's disease (neuropsychiatric, Kayser-Fleischer rings, unexplained hemolytic anemia, other)
Needless to say it is easy to miss the diagnosis.
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