23. Wilson Disease: When Should you Think of Wilson Disease?

Summary

Wilson disease (WD) is a rare autosomal recessive disorder of hepatic copper disposition, which can present as hepatic disease, neurological movement disorders, or psychiatric disease. Though often considered a disease of young adults, WD can present clinically at any age. Diagnosis requires a combination of clinical tests. In a patient with compatible liver disease and/or typical neurologic features, the combination of subnormal serum ceruloplasmin (preferably <140 mg/dL) and elevated basal 24-h urinary copper excretion (>0.6 µmol /24 h or >40 µg /24 h) is highly suggestive of WD. Kayser–Fleischer rings, due to accumulation of copper in the cornea, should be sought by slit-lamp examination, but they may not bepresent in approximately half of all patients. Genetic diagnosis is definitive but not straightforward. WD is eminently treatable. Treatment is life-long. Early diagnosis and treatment provide the best outlook for near-normal life. Discontinuing treatment leads to severe refractory liver dysfunction. First-degree relatives must be investigated for WD once a single family member has been diagnosed with WD. For family screening, genetic testing is most efficient but clinical testing may be more convenient.