Wilson's disease

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This is the rare autosomal recessive disease characterized by the deposition of copper in the brain, liver, cornea and other organs; clinical features include liver cirrhosis, liver failure, splenomegaly, tremor, bradykinesia, dysarthria, chorea, muscle rigidity, Kayser-Fleischer rings (pigmented corneal lesions), ataxia and intellectual deterioration; hepatic dysfunction may precede neurologic dysfunction by several years. The disorder caused by a defect in an enzyme involved in the biliary excretion of excess copper. Affects up to 1 in 40,000 people. Diagnosis often missed; should be considered in patients aged 10 to 40 years with hepatitis, cirrhosis, hepatic decompensation, and symptoms suggestive of movement or psychiatric disorders. Screening and diagnostic tests: 24-hour urine copper measurement, ophthalmologic slit-lamp examination for Kayser-Fleischer (KF) rings, blood ceruloplasmin levels, and liver biopsy with measurement of quantitative copper. Unlike many genetic disorders, it is treatable. Hepatic presentations are treated with a combination of trientine and zinc (liver transplantation if liver failure severe). Neurologic presentations are treated with zinc. Maintenance and presymptomatic therapy: zinc. If zinc-intolerant, trientine next best choice for maintenance.


Laboratory Test Procedures:

enlarged liver
swollen spleen
feet swelling
abdomen swelling
easy bruising
difficulty speaking
difficulty swallowing
loss of balance
muscle stiffness
behavioral and emotional changes
joint aches
joint swelling

Platelet Count
Direct Bilirubin
Uric Acid
Protein (URINE TEST)
DDxHub Differential Diagnosis online system provides with more lab test procedures...

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All information on this page is intended for your general knowledge only and does not provide medical advice, diagnosis or treatment. See Additional Information