Ferenci et al reported a score for the diagnosis of Wilson's disease. The authors are from multiple institutions in Europe and North America with membership of the European Association for the Study of the Liver (EASL).
Patient selection: possible Wilson's disease
Parameters:
(1) Kayser-Fleischer rings
(2) neuropsychiatric symptoms suggestive of Wilson's disease
(3) Coombs negative hemolytic anemia plus high serum copper
(4) urine copper in the absence of acute hepatitis
(5) if urine copper normal: urine copper after D-penicillamine challenge (2 times 0.5 grams)
(6) liver copper
(7) serum ceruloplasmin in mg/dL (nephelometry, LLN normal > 20 mg/dL)
(8) mutation analysis for disease-causing mutations
|
Parameter
|
Finding
|
Points
|
|
Kayser-Fleischer rings
|
absent
|
0
|
|
|
present
|
2
|
|
neuropsychiatric findings
|
absent
|
0
|
|
|
present
|
2
|
|
|
typical brain MRI changes
|
2
|
|
Coombs negative hemolytic anemia
|
absent
|
0
|
|
|
present
|
1
|
|
urinary copper
|
normal
|
0
|
|
|
1.1 to 2 times ULN
|
1
|
|
|
> 2 times ULN
|
2
|
|
urinary copper after D-penicillamine
|
> 5 times ULN 1 day after challenge dose
|
2
|
|
|
else
|
0
|
|
liver copper
|
normal
|
-1
|
|
|
1.1 to 5 times ULN
|
1
|
|
|
> 5 times ULN
|
2
|
|
|
NA, with Rhodanine positive hepatocytes
|
1
|
|
serum ceruloplasmin
|
normal (> 20 mg/dL)
|
0
|
|
|
10 to 20 mg/dL
|
1
|
|
|
< 10 mg/dL
|
2
|
|
mutation analysis
|
disease causing mutations on both chromosomes
|
4
|
|
|
disease causing mutation on 1 chromosome
|
1
|
|
|
no disease causing mutations
|
0
|
total score =
= SUM(points for all 8 parameters)
Interpretation:
• minimum score: -1
• maximum score: 15
• A score >= 4 indicates that Wilson's disease is highly likely.
• A score of 2 or 3 indicates that Wilson's disease is probable. More investigations indicated.
