Table 2. The scoring system for the diagnosis of Wilson disease (often referred to as the Leipzig score) proposed by Ferenci et al. (28). A total score of four or more indicates WD is highly likely, two to three indicates WD is probable (and more investigations required) and a score of zero to one indicates WD is unlikely.
| Score | −1 | 0 | 1 | 2 | 4 |
|---|---|---|---|---|---|
| Suggestive neuropsychiatric symptoms (or typical brain MRI abnormalities) | Absent | Present | |||
| KF rings (slit lamp examination) | Absent | Present | |||
| Coombs negative hemolytic anemia (+ high serum copper) | Absent | Present | |||
| Urine copper output (in absence of acute hepatitis) | Normal | 1–2× ULN | >2× ULN | ||
| Normal but output one day after 2×0.5 g D-penicillamine challenge | >5× ULN | ||||
| Liver copper content | Normal | 1–5× ULN | >5× ULN | ||
| Rhodanine-stained hepatocytes (only scored if liver copper content not available) | Absent | Present | |||
| Serum ceruloplasmin (nephelometric assay in mg/dL; normal >20)* | Normal | 10–20 | <10 | ||
| Disease causing ATP7B mutations | None | On one chromosome |
On both chromosomes |
*, other values may apply when oxidase assay used. WD, Wilson disease; ULN, upper limit of normal.