What is the recommended treatment for an 18-year-old male diagnosed with Wilson's disease?

Treatment of Wilson's Disease in an 18-Year-Old Male

For an 18-year-old male diagnosed with Wilson's disease, the recommended first-line treatment is a chelating agent (D-penicillamine or trientine), with trientine being preferred due to its better side effect profile. 1

Initial Treatment Selection

• The choice of initial therapy depends on the patient's clinical presentation:

  • For symptomatic hepatic disease: Chelating agents (D-penicillamine or trientine) are the first-line therapy 2, 1
  • For neurological symptoms: Trientine is preferred over D-penicillamine due to less risk of neurological worsening 2, 1
  • For asymptomatic/presymptomatic patients: Either zinc or a chelating agent is effective 2, 1

• Zinc monotherapy is not recommended as initial treatment for patients with symptomatic liver disease due to reports of hepatic deterioration 2, 1

Specific Medication Regimens

Trientine

• Typical dosage: 750-1500 mg/day in two or three divided doses 2
• For an 18-year-old: 20 mg/kg/day rounded to the nearest 250 mg, given in 2-3 divided doses 2
• Should be administered 1 hour before or 2 hours after meals for optimal absorption 2
• Has few side effects compared to D-penicillamine, with no reported hypersensitivity reactions 2
• Neurological worsening is much less common than with D-penicillamine 2

D-Penicillamine

• Not preferred as first-line therapy due to higher risk of side effects 1
• Side effects include hypersensitivity reactions, bone marrow suppression, autoimmune conditions, and neurological worsening in 10-50% of patients 2

Zinc

• Mechanism: Induces enterocyte metallothionein which binds copper and prevents its absorption 2
• Dosage for adults: 150 mg elemental zinc daily in three divided doses 1
• May be used as maintenance therapy after initial chelation or as first-line in neurological presentations 1
• Has minimal side effects, with gastric irritation being the most common 2

Monitoring Treatment

• Patients should be monitored at least twice yearly, more frequently during the initial treatment phase 2

• Laboratory monitoring should include:

  • Liver biochemistries and tests of hepatic synthetic function 2
  • Serum copper and ceruloplasmin 2
  • 24-hour urinary copper excretion 2
  • Complete blood count (for patients on chelators) 2

• Target values for monitoring:

  • For patients on chelators: 24-hour urinary copper excretion of 200-500 μg/day (3-8 μmol/day) 2
  • For patients on zinc: 24-hour urinary copper excretion less than 75 μg/day (1.2 μmol/day) 2
  • Normalization of non-ceruloplasmin bound copper concentration 2

Adjunctive Measures

• Dietary modifications:

  • Avoid foods with high copper concentrations (shellfish, nuts, chocolate, mushrooms, organ meats) 2
  • Dietary management alone is not recommended as sole therapy 2

• Antioxidants:

  • Vitamin E supplementation may be beneficial as an adjunctive treatment 2
  • Serum and hepatic vitamin E levels are often low in Wilson's disease 2

Treatment Duration and Maintenance

• Treatment should never be terminated indefinitely 2
• After initial stabilization (typically 2-6 months), patients may transition to maintenance therapy 2
• Options for maintenance therapy include:
  • Lower doses of chelating agents 2
  • Transition to zinc therapy 2

Special Considerations

• For patients with decompensated cirrhosis: Consider combination therapy with chelator plus zinc, with careful timing (5-6 hours between doses) 2
• For patients with acute liver failure: Liver transplantation is the only effective option 2

Common Pitfalls to Avoid

• Non-compliance with therapy can lead to hepatic deterioration and liver failure 2
• Overtreatment can lead to copper deficiency, resulting in neutropenia, anemia, and hyperferritinemia 2
• When using combination therapy (chelator plus zinc), ensure proper timing between doses to prevent chelator binding to zinc 2
• Regular monitoring is essential to ensure compliance and detect adverse effects early 2