Wilson’s Disease its causes, diagnosis ,treatment

      Ceruloplasmin

–       Serum glycoprotein that contains six copper atoms

–       Copper incorporation into ceruloplasmin is impaired in Wilson’s disease

–       95% of homozygotes have levels <20mg/dL (rarely are levels >30mg/dL)

–       May also be low in other hypoproteinemic states

–       May be low in 20% of asymptomatic heterozygotes      

Serum free copper (unbound copper)

–       greater than 25 μg in symptomatic pts (nl <10)

      Slit lamp detection of Kayser Fleischer Rings

      24 hour urinary copper excretion

–       may exceed 100μg/24 h - use metal free container

–       False + with sign. Proteinuria (ceruloplasmin loss)

      Liver biopsy

–       > 250 μg/g copper dry weight in homozygotes (normal <50)

–       Cholestatic diseases (PBC/PSC) may have elevated hepatic copper dry weight