Figure 1. Clinical features of Wilsonís disease at disease onset.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 


 

Table 1. Tests for the diagnosis of Wilsonís disease

 

 

Test

Typical findings

Normal range

Hepatic copper

> 250 mg/g dry weight

< 50 mg/g d.w.

24-h urinary copper

> 100 mg/24 h

< 40 mg/24 h

Serum ceruloplasmin

< 20 mg/dL

20-50 mg/dL

Kayser-Fleischer rings

present

absent

Serum free copper

> 25 mg /dL

< 15 mg /dL

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Table 2.Wilsonís 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, Wilsonís disease