Description

Wilson's disease is a rare metabolic disease affecting copper metabolism. Diagnosis depends on a high index of suspicion, with recognition of clinical patterns of presentation.


 

The disorder is extremely rare to present before the age of 5 and usually presents before age 40. However, Wilson's disease can present in people after 40, on into the 60's.

 

Presentations:

(1) unexplained neurologic or psychiatric disorder

(2) unexplained onset of acute hepatitis

(3) fulminant hepatitis

(4) chronic active hepatitis or persistent elevation of serum aminotransferases

(5) unexplained cirrhosis

(6) hemolytic anemia

(7) a close relative of a patient with Wilson's disease

 

A person with one of these presentations should be screened for Wilson's disease.

 


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