Scoring system for diagnosis of Wilson's disease
| Typical clinical symptoms and signs | Other tests | ||
|---|---|---|---|
| Kayser–Fleischer rings | Liver copper (in the absence of cholestasis) | 2 | |
| Present | 2 | >5×upper limit of normal (>4 μmol/g) | 1 |
| Absent | 0 | 0.8–4.0 μmol/g | – |
| Normal (<0.8 μmol/g) | 1 | ||
| Rhodanine-positive granules* | 1 | ||
| Neurological symptoms† | Urinary copper (in the absence of acute hepatitis) | ||
| Severe | 2 | Normal | 0 |
| Mild | 1 | 1–2×upper limit of normal | 1 |
| Absent | 0 | >2×upper limit of normal | 2 |
| Normal but >5×upper limit of normal after D-penicillamine | 2 | ||
| Serum caeruloplasmin | Mutation analysis | ||
| Normal (>0.2 g/L) | 0 | On both chromosomes detected | 4 |
| 0.1–0.2 g/L | 1 | On one chromosome detected | 1 |
| <0.1 g/L | 2 | No mutations detected | 0 |
| Coombs’-negative haemolytic anaemia | |||
| Present | 1 | ||
| Absent | 0 | ||
| Total score | Evaluation: | ||
| 4 or more | Diagnosis established | ||
| 3 | Diagnosis possible, more tests needed | ||
| 2 or fewer | Diagnosis very unlikely | ||
*If no quantified liver copper available.
†Typical abnormalities at MR scan of brain. Reprinted from reference 7 with permission from Elsevier.