Wilson Disease

National Digestive Diseases Information Clearinghouse 

U.S. Department 

of Health and 

Human Services 

NATIONAL 

INSTITUTES 

OF HEALTH 

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. 

1Olivarez M, Caggana M, Pass KA, Ferguson P, 

Brewer GJ. Estimate of the frequency of Wilson’s 

disease in the US Caucasian population: a mutation 

analysis approach. Annals of Human Genetics. 

2001;65:459–463. 

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. 

How is Wilson disease 

diagnosed? 

Wilson disease is diagnosed through a physical examination and laboratory tests. 

During the physical examination, a doctor 

will look for visible signs of Wilson disease. 

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 tests measure the amount of 

copper in the blood, urine, and liver tissue. 

Most people with Wilson disease will have 

a lower than normal level of copper in the 

blood and a lower level of corresponding 

ceruloplasmin, a protein that carries copper in the bloodstream. In cases of acute 

liver failure caused by Wilson disease, the 

level of blood copper is often higher than 

normal. A 24-hour urine collection will 

show increased copper in the urine in most 

patients who display symptoms. A liver 

biopsy—a procedure that removes a small 

piece of liver tissue—can show if the liver 

is retaining too much copper. The analysis 

of biopsied liver tissue with a microscope 

detects liver damage, which often shows a 

pattern unique to Wilson disease. 

Genetic testing may help diagnose Wilson 

disease in some people, particularly those 

with a family history of the disease. 

Wilson disease can be misdiagnosed because 

it is rare and its symptoms are similar to 

those of other conditions. 

2 	Wilson Disease 
Who should be screened for 

Wilson disease? 

Anyone with unexplained liver disease 

or neurologic symptoms with evidence of 

liver disease, such as abnormal liver tests 

and symptoms of liver disease, should be 

screened for Wilson disease. People with a 

family history of Wilson disease, especially 

those with an affected sibling or parent, 

should also be screened. A doctor can diagnose Wilson disease before the appearance 

of symptoms. Early treatment can reduce or 

even prevent illness. 

How is Wilson disease 

treated? 

Wilson disease requires lifelong treatment to 

reduce and control the amount of copper in 

the body. 

Initial therapy includes the removal of excess 

copper, a reduction of copper intake, and 

the treatment of any liver or central nervous 

system damage. 

The drugs d-penicillamine (Cuprimine) and 

trientine hydrochloride (Syprine) release copper from organs into the bloodstream. Most 

of the copper is then filtered out by the kidneys and excreted in urine. A potential major 

side effect of both drugs is that neurologic 

symptoms can become worse—a possible 

result of the newly released copper becoming reabsorbed by the central nervous system. 

About 20 to 30 percent of patients using 

d-penicillamine will also initially experience 

other reactions to the medication, including 

fever, rash, and other drug-related effects 

on the kidneys and bone marrow. The risk 

of drug reaction and neurologic worsening 

appears to be lower with trientine hydrochloride, which should be the first choice for the 

treatment of all symptomatic patients. 

Pregnant women should take a lower dose 

of d-penicillamine or trientine hydrochloride 

during pregnancy to reduce the risk of birth 

defects. A lower dose will also help reduce 

the risk of slower wound healing if surgical 

procedures are performed during childbirth. 

Zinc, administered as zinc salts such as 

zinc acetate (Galzin), blocks the digestive 

tract’s absorption of copper from food. Zinc 

removes copper too slowly to be used alone 

as an initial therapy for people who already 

have symptoms, but it is often used in combination with d-penicillamine or trientine 

hydrochloride. Zinc is safe to use at full 

dosage during pregnancy. 

Maintenance therapy begins when symptoms 

improve and tests show that copper has been 

reduced to a safe level. Maintenance therapy 

typically includes taking zinc and low doses 

of either d-penicillamine or trientine hydrochloride. Blood and urine should be monitored by a health care provider to ensure 

treatment is keeping copper at a safe level. 

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. Other foods 

high in copper—including mushrooms, nuts, 

and chocolate—should be avoided during 

initial therapy but, in most cases, may be 

eaten in moderation during maintenance 

therapy. People with Wilson disease should 

have their drinking water checked for copper 

content and should not take multivitamins 

that contain copper. 

If the disorder is detected early and treated 

effectively, people with Wilson disease can 

enjoy good health. 

3 Wilson Disease 
Points to Remember 

•	 Wilson disease prevents the body from 

getting rid of extra copper. 

•	 Wilson disease first attacks the liver, the 

central nervous system, or both. 

•	 Anyone with unexplained liver disease 

or neurologic symptoms with evidence 

of liver disease should be screened for 

Wilson disease. 

•	 Wilson disease requires lifelong treatment to reduce and control the amount 

of copper in the body. 

•	 If the disorder is detected early and 

treated effectively, people with Wilson 

disease can enjoy good health. 

Hope through Research 

The National Institute of Diabetes and 

Digestive and Kidney Diseases conducts and 

supports Wilson disease research. 

The U.S. Food and Drug Administration 

is evaluating a new anti-copper drug called 

tetrathiomolybdate (Coprexa). A National 

Institutes of Health-supported clinical trial 

found tetrathiomolybdate to be as effective 

as trientine hydrochloride in removing copper but with less risk of worsening neurologic 

symptoms. 

For a complete listing of trials being conducted, visit www.ClinicalTrials.gov. 

4 	Wilson Disease 
5 Wilson Disease

For More Information

Wilson’s Disease Association International

1802 Brookside Drive 

Wooster, OH 44691 

Phone: 1–888–264–1450 or 330–264–1450 

Email: info@wilsonsdisease.org 

Internet: www.wilsonsdisease.org

American Liver Foundation

75 Maiden Lane, Suite 603 

New York, NY 10038–4810 

Phone: 1–800–GO–LIVER (465–4837) 

 or 212–668–1000 

Fax: 212–483–8179 

Email: info@liverfoundation.org 

Internet: www.liverfoundation.org

You may also find additional information about this 

topic by visiting MedlinePlus at www.medlineplus.gov.

This publication may contain information about 

medications used to treat a health condition. When 

this publication was prepared, the NIDDK included 

the most current information available. Occasionally, new information about medication is released. 

For updates or for questions about any medications, 

please contact the U.S. Food and Drug Administration at 1–888–INFO–FDA (463–6332), a toll-free call, 

or visit their website at www.fda.gov. Consult your 

doctor for more information.

The U.S. Government does not endorse or favor any 

specific commercial product or company. Trade, 

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document are used only because they are considered 

necessary in the context of the information provided. 

If a product is not mentioned, the omission does not 

mean or imply that the product is unsatisfactory.
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by Michael L. Schilsky, M.D., Yale-New Haven 

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This fact sheet is also available at 

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U.S. DEPARTMENT OF HEALTH 

AND HUMAN SERVICES 

National Institutes of Health 

NIH Publication No. 09–4684 

May 2009