Wilson's Disease



Genetic mutation on chromosome 13


Jaundice, tremors, spasms, difficulty speaking, drooling, personality changes

Mortality Rate

Inevitably fatal if untreated


Low copper diet, chelation therapy

Show Information

Wilson's Disease is a rare genetic disorder that causes copper poisoning in the body caused by the inability of the body to properly dispose copper from the bloodstream. 

In a healthy body, the liver filters out excess copper and disposes of it in bile into the digestive tract releasing it through urine. With Wilson’s disease, the liver cannot remove the extra copper properly. The extra copper then builds up in organs such as the liver, brain, and eyes eventually poisoning them.

One of the only definitive signs of the disease is a Kaiser-Fleischer ring a copper colored ring around the cornea in the eye. As such, many cases of Wilson's are discovered during routine eye exams.

If Kaiser-Fleischer rings are not present samples of the patients hair and nails must be tested with acetone and will glow blue if any traces of copper are found in the keratin at the base of the cuticle. This test must be done if eye exams come back negative for Kaiser-Fleischer rings.

Chelation therapy will remove excess copper from the body, but patients cannot be cured and must thereafter avoid foods that are rich in copper, such as liver, shellfish and nuts.

See also Haemochromatosis, a similar disease where the body cannot dispose of iron.

Wilson's disease at Wikipedia

Wilson's disease at Mayo Clinic

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