Table 1.
Diagnostic scoring system for Wilson’s disease.
| Test | Parameter | Score |
|---|---|---|
| Kayser-Fleischer ring | Present | 2 |
| Absent | 0 | |
| Neurological symptoms | Severe | 2 |
| Mild | 1 | |
| Absent | 0 | |
| Serum ceruloplasmin | Normal (>0.2 g/L) | 0 |
| 0.1–0.2 g/L | 1 | |
| <0.1 g/L | 2 | |
| Coombs-negative hemolytic anemia | Present | 1 |
| Absent | 0 | |
| Liver copper (in the absence of cholestasis) | >250 µg (>4 µmol) g−1 dry weight | 2 |
| 50–249 µg (0.8–4 µmol) g−1 | 1 | |
| Normal: <50 µg (<0.8 µmol) g−1 | −1 | |
| Rhodanine-positive granules | 1 | |
| Urinary copper (in the absence of acute hepatitis) | Normal | 0 |
| 1–2 × ULN | 1 | |
| >2 × ULN | 2 | |
| Normal but >5 × ULN after D-penicillamine | 2 | |
| Mutation analysis of ATP7B | Biallelic deleterious variants | 4 |
| One deleterious variant | 1 | |
| No mutation detected | 0 | |
| Total score | Evaluation | |
| ≥4 | Diagnosis established | |
| 3 | Diagnosis possible; more tests needed | |
| ≤2 | Diagnosis very unlikely |
ULN: upper limit of normal.