Wilson Disease is a rare genetic disorder that prevents the body from removing excess copper, causing it to build up in organs like the liver, brain, kidneys and eyes. It is caused by mutations in the ATP7B gene and symptoms generally appear between ages 6-40, affecting men and women equally. If left untreated, copper accumulation can cause irreversible organ damage and be fatal, but treatment aims to remove excess copper from the body using medications like penicillamine. Diagnosis involves testing for high copper levels and Kayser-Fleischer rings in the eyes.
1. Wilson Disease
Amanda Waltman
Christopher De Miranda
Michelle Pinto- Martinez
David Draper
Period 2
Group 5
2. What is Wilson Disease ?
Wilsons disease is a rare genetic disease that requires the
patient to inherit two abnormal copies of the gene ATP7B. In
other words both parents must be carriers (have one abnormal
copy of this gene).
The chances of getting this disease is about 1 in 40,000 people
world wide. The chances of being a carrier is about 1 in 90.
It affects men, women and all races equally.
Wilson disease Is a genetic disorder that prevents the body from
expelling excess copper.
Copper builds up in the liver, brain, kidneys, and eyes. Over time
the copper causes irreversible organ damage.
If left untreated this can be fatal.
3. Signs & Symptoms
Liver
swelling of the liver or spleen
jaundice, or yellowing of the skin and whites of the eyes
fluid buildup in the legs or abdomen
a tendency to bruise easily
Fatigue
Neurologic
problems with speech, swallowing, or physical coordination
tremors or uncontrolled movements
muscle stiffness
behavioral changes
Other
Anemia
low platelet or white blood cell count
slower blood clotting, measured by a blood test
high levels of amino acids, protein, uric acid, and carbohydrates in urine
premature osteoporosis and arthritis
4. Kayser-Fleischer Rings
Kayser-Fleischer rings are brown/gold rings (generally a little
lighter than rust) that form around the edge of the iris and
cornea.
They appear in both eyes
Caused by copper deposits in stroma.
5. When do symptoms appear? Where does it affect?
Symptoms generally
It affects the
appear between ages 6 to
liver, brain, kidneys and
40, but can start as early
eyes.
as 2 and as late as 72.
In the eyes it affects the
When you see symptoms
iris, cornea, and stroma.
may depend on your diet
6. What causes Wilson Disease?
Wilson disease is caused by the inability to filter copper from
the body.
This is brought on by two pairs of mutated ATP7B gene.
Copper builds up over time inside the body, causing copper
damage.
7. Diagnosis
Wilson disease is diagnosed by a number of laboratory and
physical test.
They look forKayser-ischer rings. A special light called a slit lamp
is used to look for Kayser-Fleischer rings in the eyes. Kayser-
Fleischer rings are present in almost all people with Wilson
disease who show signs of neurologic damage but are present
in only 50 percent of those with signs of liver damage alone
Laboratory test measure the amount of copper in the blood
stream.
8. Treatment
The first thing they do is remove the excess copper in the
body.
The drugs d-penicillamine (Cuprimine) and trientine
hydrochloride (Syprine) release copper from organs into the
bloodstream.
People with Wilson disease should reduce their dietary
copper intake. They should not eat shellfish or liver, as these
foods may contain high levels of copper
Pregnant women should take a lower dose of d-penicillamine
or trientine hydrochloride during pregnancy to reduce the risk
of birth defects
9. Resources
Schilsky, M.D, M. (2009, May ). Wilson Disease. Retrieved from
http://digestive.niddk.nih.gov/ddiseases/pubs/wilson/
Mayo Clinic Staff. (2011, August 2). Wilson's disease. Retrieved
from http://www.mayoclinic.com/health/AboutThisSite/AM00057
K Gilroy, R., & Katz, J. (2011, December 9). Wilson disease .
Retrieved from http://emedicine.medscape.com/article/183456-
overview
Lorincz, M., &Huq, M. (2011, March 29). Wilson disease.
Retrieved from http://www.medlink.com/medlinkcontent.asp
