Wilson`s Disease Biology Project Cooper Vinz

By Cooper Vinz
Alternative Names
• Hepatolenticular degeneration
• Copper storage disease
• Neurodegenerative disease of copper
Who is most likely to get the disorder?
• People who get Wilson disease inherit two abnormal copies of
the ATP7B gene (on chromosome 13), one from each parent.
This is an Autosomal recessive inheritance pattern. Wilson
disease carriers, who have only one copy of the abnormal
gene, do not have symptoms.
• About one in 40,000 people get Wilson disease. It is most
common in eastern Europeans, Sicilians, and southern
Italians, but may occur in any group.
Symptoms of
Wilson’s Disease
A buildup of copper in the liver
• swelling of the liver or
• yellowing of the skin and
whites of the eyes
• fluid buildup in the legs or
• a tendency to bruise easily
• fatigue
Yellowing of
Skin and Eyes
A buildup of copper in the central
nervous system may result in
• problems with speech,
swallowing, or physical
• tremors or uncontrolled
• muscle stiffness
• behavioral changes
Problem with
How common is this disorder?
One out of 30,000 persons has Wilson's Disease. This adds up
to 9,000 people in the United States and 200,000 people
worldwide. This disorder is only common with people whose
parents carried the disease, but is still uncommon to get the
Is Wilson’s disease deadly?
Without proper treatment Wilson’s disease is always fatal, it
will shorten your life span to about 30 years of age. If
treatment is begun early enough, recovery is usually
complete, and a life of normal age and can be expected.
However, if treatment is begun too late, recovery will be only
partial and the disease will be fatal.
Can you be tested for Wilson’s
Biochemical Testing
• Begin at age 2 if
asymptomatic, repeat once
in 5 years unless
reason to pursue further.
You can be
tested as young
as age 2
Regular Testing for Wilson’s
Physical examination and brief
history of any liver or
neurological symptoms.
24 hour urine copper.
Examines amount of copper in
Slit-lamp exam of the eyes for
Kayser-Fleischer rings. Copper
rings in eyes.
If no K-F rings, abnormal liver
functions tests, liver bio
Is there a treatment to Wilson’s
The most common agent used for this purpose is D-penicillamine
(Cuprimine, Depen) or chelating agents. This drug binds to copper and
forms a stable compound that is then released in urine. Treatment for
people with signs and symptoms of Wilson's disease usually starts with a
chelating agent. A smaller amount of medication is necessary in
maintaining the right amount of copper in your body. Recommend also is
chelating agents to people who've been diagnosed with Wilson's disease,
but don't have signs and symptoms. Chelating agent can lower the risk of
liver damage for these people. Chelating agents do not cure Wilson’s
disease they just mainly treats the symptoms.
Chelating agents can be put
into organs, like the liver to
treat Wilson’s disease.
Wilson’s Disease Support Groups
There are many support groups for Wilson’s
disease. These support groups bring together
people who have the disease and let them
share their experiences with one another.
These are some support groups available
• http://www.dailystrength.org/c/WilsonsDisease/support-group
• http://www.mdjunction.com/wilsons-disease
Interesting Facts about Wilson’s
• Hereditary copper accumulation has been
described in Bedlington Terriers.
• Howard Dell, former Olympic athlete, actor,
and NFL player, fights Wilson’s disease
and has had a liver transplant.
• Genetic testing for Wilson disease is not yet
Works Cited
• http://www.medterms.com/script/main/art.a
• http://digestive.niddk.nih.gov/ddiseases/pubs
• http://www.wilsonsdisease.org/wilsondisease/wilsondisease-inheritance.php
• http://www.wemove.org/wil/wil_tre.html

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