By Disease Name > Wilson's disease

Wilson's disease

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AKA hepatolenticular degeneration
autosomal recessive

 

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:

decreased ceruloplasmin
increased urinary/ serum copper

 

clinical:

GI hepatomegaly;  cirrhosis
CNS ataxia
Ophto Kayser-Fleisher ring = yellow-brown copper deposition in Descemets 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:

penicillamine
liver transplant (the new liver will make the transport protein and properly process all of the copper)