Treatment of Wilson's Disease with Hepatic Presentation

Diagnostic Confirmation

The European Association for the Study of the Liver (EASL) recommends that a diagnosis of Wilson's disease be based on a combination of clinical presentation, laboratory findings, and genetic testing, including elevated 24-hour urinary copper, with values >1.6 μmol (>100 μg/day) 1, 2
The American Association for the Study of Liver Diseases (AASLD) notes that low serum ceruloplasmin and low serum copper are consistent with reduced ceruloplasmin-bound copper, and are typical in symptomatic patients with Wilson's disease 1
Hepatic dysfunction, including elevated transaminases, low albumin, and hyperbilirubinemia, indicates significant liver involvement in Wilson's disease 1
Neurological signs, such as fine tremor of both hands, indicate copper accumulation in the basal ganglia 1

The American Association for the Study of Liver Diseases (AASLD) recommends D-penicillamine as the first-line treatment for Wilson's disease, due to its ability to remove excess copper by enhancing urinary excretion 1
The European Association for the Study of the Liver (EASL) notes that D-penicillamine has been shown to be effective in improving clinical signs and recovering synthetic liver function in patients with symptomatic liver disease, with recovery typically occurring during the first 2-6 months of treatment 1

The American Association for the Study of Liver Diseases (AASLD) recommends starting with incremental doses of 125-250 mg/day, increased by 250 mg increments every 4-7 days to a maximum of 1000-1500 mg/day in 2-4 divided doses 1
The European Association for the Study of the Liver (EASL) notes that weekly CBC, urinalysis, and liver function tests are recommended for the first 2-4 weeks, then every 2-4 weeks thereafter 2
Target urinary copper excretion of 200-500 μg/24 hours (3-8 μmol/24 hr) on treatment is recommended by the American Association for the Study of Liver Diseases (AASLD) 1, 3

The American Association for the Study of Liver Diseases (AASLD) notes that 10-50% of patients may experience worsening of neurological symptoms during initial D-penicillamine therapy, with 13.8% adversely affected in recent series 1
The European Association for the Study of the Liver (EASL) recommends close neurological monitoring during treatment initiation, and consideration of switching to trientine if severe neurological worsening occurs 2
Severe side effects requiring discontinuation occur in approximately 30% of patients, according to the American Association for the Study of Liver Diseases (AASLD) 1