Figure 1. Clinical features of Wilson’s disease at disease onset.
Table 1. Tests for the diagnosis of Wilson’s disease
|
Test |
Typical findings |
Normal range |
|
Hepatic copper |
> 250 mg/g dry weight |
mg/g d.w. |
|
24-h urinary copper |
> 100 mg/24 h |
mg/24 h |
|
Serum ceruloplasmin |
dL |
20-50 mg/dL |
|
Kayser-Fleischer rings |
present |
absent |
|
Serum free copper |
> 25 mg /dL |
mg /dL |
Table 2. Wilson’s disease pharmacological treatment
|
Drug |
Dose |
Indication |
Side effects |
|
DPCA |
1-1.5 g/day |
Hepatic WD |
Hypersensitivity reactions, bone marrow depression, late reaction involving skin, joints and immune system. Neurological worsening |
|
Trientine |
1 g/day |
Hepatic and Neurologic WD (in case of DPCA intolerance) |
Lupus-like syndrome, sideroblastic anemia. |
|
Zinc |
150-200 mg/day |
Hepatic and neurologic WD: pre-symptomatic and/or maintenance; pregnancy |
Gastric discomfort |
|
TTM |
120 mg/day |
Neurologic WD |
Bone marrow depression, transient increase of liver tests |
Legend: DPCA, D-Penicillamine; TTM, Tetrathiomolybdate; WD, Wilson’s disease