Audio Clinical Professionals

Wilson Disease Diagnosis and Clinical Features

Explains the pathophysiology of Wilson disease, common manifestations of Wilson's disease, and Wilson disease present clinically in practical Movement Disorder care.

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Duration

00:03:55

File size

0.90 MB

Practitioner-Guided Note

Screen any young person with liver disease and a movement disorder for Wilson disease, and do not rely on a single ceruloplasmin result—check free copper and twenty-four-hour urine copper before concluding the workup is negative. Request a slit-lamp examination when clinical suspicion is present, because Kayser-Fleischer rings are highly specific and may be the fastest path to diagnosis.

Key Takeaways

Initial screening requires checking serum ceruloplasmin, free serum copper, and a twenty-four hour urinary copper excretion; This causes toxic copper to build up in the liver and the brain, which leads to characteristically low serum ceruloplasmin levels; Interesting age split: children typically present with prominent signs of liver disease, whereas adults are much more likely to first manifest with neurological symptoms; Cause chronic active hepatitis, progressive cirrhosis, and in some severe instances, acute, fulminant liver failure; Genetic mutation severely impairs normal copper transport