Wilson's Disease
- causes and risk factors
- signs, symptoms, and diagnosis
- pathophysiology
- treatments
- consequences and course
- the patient
- health care team
- community involvement
- resources and references
Causes and Risk Factors
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.
Signs, Symptoms, and Diagnosis
Wilson's disease mimics all liver diseases.
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.
Wilson's can also be associated with hemolysis.
- history
- physical exam
- labs
History
CNS copper deposition can lead to a large number of neurological and psychiatric symptoms, including encephalopathy and Parkinson's symptoms.
Labs
reduced total serum copper
low ceruloplasmin
increased liver copper on biopsy
hemolytic anemia (retic count, haptoglobin, peripheral smear)
Pathophysiology
Wilson's disease occurs with deregulated
Autosomal recessive defect in copper metabolism. Deposition in liver, and around the body
Treatments
A low copper diet is important.
Chelation is an important treatment, such as penicillamine (250 mg PO TID) or trientine
Consequences and Course
The Patient
Health Care Team
Community Involvement
References