Roberts and Schilsky reported diagnostic pathways for Wilson's disease. The authors are from the Hospital for Sick Children in Toronto and Yale University.
Usual presentations:
(1) neuropsychiatric disorder
(2) liver disease
Initial work-up"
(1) slit lamp exam for Kayser-Fleischer rings
(2) serum ceruloplasmin in mg/dL
(3) urine copper on a 24-hour urine
There are 8 possible combinations for the results.
|
Parameter
|
Finding
|
Points
|
|
Kayser-Fleischer rings
|
absent
|
0
|
|
|
present
|
1
|
|
serum ceruloplasmin
|
>= LLN
|
0
|
|
|
< LLN
|
1
|
|
24-hour urine copper
|
<= 40 micrograms
|
0
|
|
|
> 40 micrograms
|
1
|
where:
• The molecular weight of copper is 63.546. 40 micrograms per day equals 0.63 micromoles.
total number of findings =
= SUM(points for all 3 tests)
Interpretation:
• minimum number: 0
• maximum number: 3
• A score of 0 makes the diagnosis unlikely.
• A score of 3 makes the diagnosis likely.
• Additional testing may be necessary to establish the diagnosis.
Additional tests may include:
(1) molecular testing, including sequencing of ATP7B
(2) copper quantification of liver biopsy (> 250 micrograms copper per gram dry weight)
Limitations:
• The 24 hour urine collection has to be complete.
• Serum and urine copper levels can be nonspecific.
