Wilson’s Disease“Hepatolenticular Degeneration”

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

bile production. 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

the tissue.

What are the Symptoms?

Symptoms of Wilson Disease are ● Delirium (Confusion)● Dementia (Forgetfulness, Easily confused)● Ataxia (Difficulty Walking)● Abdominal Distention (Enlargement of abdomen)● Neuroses (Phobias)(Brain)● Vomiting blood (Kidneys failing)● Icterus (Jaundice eyes or skin)(Liver failing)● Tremors of hands or arms (Brain/Nervous System)● Speech impairment (Brain)● Weakness● 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 thinking.

What are treatments?Treatments for Wilson’s Disease are Chelation (Reducing the amount of copper in tissues)Penicillamine, Cuprimine, Depen (Binds copper, increases the release of copper in urine)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

Bibliography

● http://www.news-medical.net/health/Wilsons-Disease.aspx

● http://www.nlm.nih.gov/medlineplus/ency/article/000785.htm