Wilson's Disease
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Introduction
Wilson's Disease is an autosomal recessive defect in copper metabolism. It is rare, affecting 1 in 30,000. Most people develop symptoms by age 50.
The Case of...
Causes and Risk Factors
Pathophysiology
Wilson's disease occurs with deregulated
Autosomal recessive defect in copper metabolism. Deposition in liver, and around the body
Signs and Symptoms
- history
- physical exam
History
Wilson's disease mimics all liver diseases.
CNS copper deposition can lead to a large number of neurological and psychiatric symptoms, including encephalopathy and Parkinson's symptoms.
Physical Exam
Copper-coloured rings (Kayser-Fleisher rings) around the iris are the most recognized sign of Wilson's disease due to copper deposition into the eye. Deposition in the lens can also lead to sunburst cataracts.
Investigations
- lab investigations
- diagnostic imaging
Lab Investigations
Wilson's can also be associated with:
- reduced total serum copper
- low ceruloplasmin
- increased liver copper on biopsy
- hemolytic anemia (retic count, haptoglobin, peripheral smear)
Diagnostic Imaging
Differential Diagnosis
Treatments
A low copper diet is important.
Chelation is an important treatment, such as penicillamine (250 mg PO TID) or trientine.
Consequences and Course
Additional Resources
Topic Development
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