A rare inherited disorder...
What is Wilson’s disease?
Wilsons disease is a rare inherited disorder, when your
body takes in and absorbs too much copper. Normally,
copper from the diet is filtered out by the liver and released
into bile, which flows out of the body. People who have
Wilson disease cannot release copper from the liver.When
the copper storage capacity of the liver is exceeded, copper
is released into the bloodstream and travels to other organs
including the brain, kidneys, and eyes.
What caused it?
Wilson’s disease is caused by a mutation in the
ATP7B gene. This gene controls your liver and
If both of your parents have the gene you are
25% likely to inherit Wilson’s disease.
Who is this most common in?
Wilson’s disease was most common in Eastern
Europeans, Sicilians, and Southern Italians,
this affects females and males the same, and
people between 4 and 40.
What parts of your body are affected?
Wilson’s disease can create copper deposits in
your liver, brain, kidneys, and eyes destroying
What are the Symptoms?
Symptoms of Wilson Disease are
Dementia (Forgetfulness, Easily confused)
Ataxia (Difficulty Walking)
Abdominal Distention (Enlargement of abdomen)
Vomiting blood (Kidneys failing)
Icterus (Jaundice eyes or skin)(Liver failing)
Tremors of hands or arms (Brain/Nervous System)
Speech impairment (Brain)
Emotional and Behavioral changes (Brain)
What are the Exams/Tests?
A test for Wilson’s Disease are a slit-lamp eye
examination to see Kayser-Fleischer rings.
Another test for Wilson’s disease is physical
examination to see nervous system damage,
liver or spleen disorders
What are long term effects?
After you have Wilson’s disease sometimes
there is neurological damage, IQ loss, muscle
tremors,loss of memory, coordination, and
What are treatments?
Treatments for Wilson’s Disease are
Chelation (Reducing the amount of copper in
Penicillamine, Cuprimine, Depen (Binds
copper, increases the release of copper in
Zinc Acetate(Galzin) (Blocks copper from being
absorbed in intestinal tract)
What type of diet is low copper?
A low copper diet includes chocolate, dried
fruit, liver, mushrooms, and nuts.
Who discovered it?
Wilsons disease is named after Dr. Samuel
Kinnier Wilson a neurologist during 1875-1937
Wilson’s disease was properly explained
Professor John N
The gene ATP7B was discovered by 70’s and
80’s research groups