Screening for Wilson disease (WD) in sibling or child of a patient with secure diagnosis of WD

If molecular testing is available in the index patient, then this is the most efficient screening strategy. If initial screening by blood and urine testing is normal, then consider repeat screening in 2 to 5 years.
Conversion to SI units: CPN <20 mg/dL or 0.2 g/L; 24-hour urinary Cu >40 micrograms/day or 0.6 micromol/day.
Baseline testing = complete blood count including platelet count (CBC), liver biochemistries, international normalized ratio (INR), serum ceruloplasmin, 24-hour urine copper excretion; liver biopsy when appropriate.