Screening

Research is ongoing and general population screening is not available. Measurement of ceruloplasmin using dried blood spots in newborns, or urine in children, is under investigation.[37][38][39]

First-degree relatives of any patient newly diagnosed with Wilson's disease must be screened for Wilson's disease.[5][24][25][40]

Obtain a clinical history from the relative, including symptoms of jaundice, history of liver disease, and any neurological or psychiatric symptoms. A physical examination should be conducted evaluating hepatic disease stigmata, peripheral and central nervous system functioning, and Kayser-Fleischer (KF) rings.

Screening investigations for first-degree relatives of a diagnosed patient include:[5][24][25]

  • Molecular testing for ATP7B mutations or haplotype studies: may be used as primary screening if available

  • Liver function tests, serum ceruloplasmin, and serum copper

  • 24-hour urinary copper excretion

  • Slit-lamp examination for KF rings

  • Liver biopsy.

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