Treatment of Wilson Disease in Children

Initial Treatment Approach

For symptomatic children with hepatic Wilson disease, a chelating agent (D-penicillamine or trientine) should be initiated as first-line therapy, as recommended by the American Association for the Study of Liver Diseases 1, 2, 3
Zinc monotherapy is contraindicated in symptomatic hepatic disease due to documented cases of hepatic deterioration and even fatal outcomes when zinc was used as sole initial therapy, according to the American Association for the Study of Liver Diseases 1, 3
The risk of inadequate copper removal with zinc alone in hepatic disease outweighs its safety advantages during the critical initial treatment phase, as stated by the American Association for the Study of Liver Diseases 1
For symptomatic patients with neurological presentation, zinc may be considered as first-line therapy, as it carries lower risk of neurological deterioration compared to chelators, as recommended by the American Association for the Study of Liver Diseases 1, 3
Chelating agents remain an acceptable alternative, though penicillamine carries a 10-50% risk of worsening neurological symptoms during initial treatment, according to the American Association for the Study of Liver Diseases 2

For a child weighing less than 50 kg, 75 mg elemental zinc daily in three divided doses, taken 30 minutes before meals, is recommended by the American Association for the Study of Liver Diseases 1, 3
For a child weighing more than 50 kg, 150 mg elemental zinc daily in three divided doses is recommended by the American Association for the Study of Liver Diseases 1, 3
Trientine: 10 mg/kg/day in children, given in divided doses, is recommended by the American Association for the Study of Liver Diseases 2, 4

At least twice yearly once stable, but more frequently during initial treatment phase, monitoring is recommended by the American Association for the Study of Liver Diseases 3
During first year of treatment, monitoring every 3 months is recommended by the American Association for the Study of Liver Diseases 1
Liver function tests (ALT, AST, bilirubin, albumin, PT/INR) to assess hepatic function are recommended by the American Association for the Study of Liver Diseases 2, 3
24-hour urinary copper excretion: Target is <75 μg/day (1.2 μmol/day) on zinc therapy, or 200-500 μg/day (3-8 μmol/day) on chelator therapy, as recommended by the American Association for the Study of Liver Diseases 2, 4, 3

Avoid foods with very high copper content during at least the first year: shellfish, nuts, chocolate, mushrooms, and organ meats, as recommended by the American Association for the Study of Liver Diseases 1, 7, 3
Dietary management alone is never sufficient as sole therapy, according to the American Association for the Study of Liver Diseases 7, 3
Consider vitamin E as adjunctive treatment, as serum and hepatic vitamin E levels are often low in Wilson disease, as recommended by the American Association for the Study of Liver Diseases 1, 7, 3

Treatment must never be discontinued indefinitely - even brief interruptions can lead to intractable hepatic decompensation, as warned by the American Association for the Study of Liver Diseases 2, 4, 7
Penicillamine causes neurological worsening in 10-50% of patients with neurological symptoms when used as initial therapy, according to the American Association for the Study of Liver Diseases 2
If new neurological symptoms develop or existing symptoms worsen during initial chelator therapy, consider switching to zinc, as recommended by the American Association for the Study of Liver Diseases 1
If the child presents with acute liver failure, liver transplantation is the only life-saving treatment, as stated by the American Association for the Study of Liver Diseases 2, 4, 7

After 1-5 years of successful chelator therapy, stable patients may transition to zinc monotherapy or continue reduced-dose chelator, as recommended by the American Association for the Study of Liver Diseases 2, 4, 3
Criteria for transition include: clinically well, normal liver enzymes and synthetic function, normal non-ceruloplasmin-bound copper, and appropriate urinary copper excretion on treatment, as stated by the American Association for the Study of Liver Diseases 2, 4