What is Wilson disease?
Wilson disease is a genetic disorder that prevents the body from
getting rid of extra copper. A small amount of copper obtained
from food is needed to stay healthy, but too much copper is
poisonous. In Wilson disease, copper builds up in the liver,
brain, eyes, and other organs. Over time, high copper levels can
cause life-threatening organ damage.
Who gets Wilson disease?
People who get Wilson disease inherit two abnormal copies of the
ATP7B gene, one from each parent. Wilson disease carriers, who
have only one copy of the abnormal gene, do not have symptoms.
Most people with Wilson disease have no known family history of
the disease. A person’s chances of having Wilson disease increase
if one or both parents have it.
About one in 40,000 people get Wilson disease.1 It equally affects
men and women. Symptoms usually appear between ages 5 to 35, but
new cases have been reported in people aged 2 to 72 years.
What causes Wilson disease?
Wilson disease is caused by a buildup of copper in the body.
Normally, copper from the diet is filtered out by the liver and
released into bile, which flows out of the body through the
gastrointestinal tract. People who have Wilson disease cannot
release copper from the liver at a normal rate, due to a mutation
of the ATP7B gene. 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 are the symptoms of Wilson disease?
Wilson disease first attacks the liver, the central nervous
system, or both.
A buildup of copper in the liver may cause ongoing liver disease.
Rarely, acute liver failure occurs; most patients develop signs
and symptoms that accompany chronic liver disease, including
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
A buildup of copper in the central nervous system may result in
neurologic symptoms, including
problems with speech, swallowing, or physical coordination
tremors or uncontrolled movements
muscle stiffness
behavioral changes
Other signs and symptoms of Wilson disease include
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
Kayser-Fleischer rings result from a buildup of copper in the eyes
and are the most unique sign of Wilson disease. They appear in
each eye as a rusty-brown ring around the edge of the iris and in
the rim of the cornea. The iris is the colored part of the eye
surrounding the pupil. The cornea is the transparent outer
membrane that covers the eye.
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swelling of the liver or spleen
