Review Question - QID 101225

In Wilson disease, impaired copper trafficking in hepatocytes leads to the eventual release of free copper into circulation. This copper may become deposited in the cornea, therefore a slit lamp examination would be useful in finding this manifestation (Kayser-Fleischer rings).

Treatment for Wilson disease may involve copper chelating agents such as penicillamine and trientine. Furthermore, administration of zinc is also helpful since it antagonizes copper absorption in the gastrointestinal tract.

Riley et al., in a review of chronic liver disease, report that Wilson disease is an important hereditary disorder to consider in the differential diagnosis of chronic liver disease. Other hereditary forms of liver disease include hemochromatosis and alpha1-antitrypsin deficiency.

Liu et al. explain that Wilson disease is often not noticed until irreversible damage has occurred. In order to catch the disease before damage occurs, they stress ophthalmologic detection of Kayser-Fleischer rings is a powerful method of early diagnosis.

Illustration A is an example of a Kayser-Fleischer ring resulting from corneal deposits of copper.
Illustration B depicts the various organ systems affected in Wilson disease.

Incorrect Answers:
Answer 1: Serum detection of anti-myelin antibodies would be consistent with multiple sclerosis.
Answer 3: Vitamin B12 deficiency would be more consistent with lower limb muscle weakness.
Answer 4: Though this would be useful in detecting basal ganglia damage due to elevated copper levels, this would not be definitive for Wilson disease.
Answer 5: Abnormal reflexes are not a hallmark of Wilson disease, but can be useful in distinguishing upper from lower motor neuron disease.