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	< 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. 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