| • | AKA hepatolenticular degeneration |
pathogenesis:
| • | defect in biliary excretion of copper/ copper transport |
| • | leads to accumulation of copper in liver, brain, cornea |
| • | I think of it as primarily a disease of the liver, as it is cured by a liver transplant |
lab data:
| • | increased urinary/ serum copper |
clinical:
| • | GI – hepatomegaly; cirrhosis |
| • | Ophto – Kayser-Fleisher ring = yellow-brown copper deposition in Descemet’s membrane of the cornea |
| • | Derm – blue lunula (rare), pre-tibial hyperpigmentation |
ddx:
| • | argyria (blue lunula and ???) |
| • | other causes of chronic liver disease |
| • | other causes of dementia and ataxia |
treatment:
| • | liver transplant (the new liver will make the transport protein and properly process all of the copper) |
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