Wilson’s disease is a genetic disorder in which there is decreased excretion (elimination of waste matter) of copper into bile; this results in the buildup of copper to toxic levels in the liver, brain and/or other organs.4 Copper enters our bodies through the food we eat; this is normal and necessary because the body needs copper to ensure our cells work properly and to make proteins, nerve cells and the pigments that color our skin, eyes and hair.4,5 Copper plays a particularly important role in the development and maintenance of the central nervous system.5 However, the average diet contains more copper than the body needs. In most people, the liver processes the necessary amount and excretes the leftover copper into bile, which passes out of the body in feces.4
About 1 out of every 30,000 people worldwide has a genetic mutation that causes a breakdown in the body’s normal mechanism for removing the excess copper4
More than 500 different mutations can cause Wilson’s disease, but all of them affect a gene called ATP7B, which can be found on chromosome 13 in human cells4,6
The gene tells the body how to make a protein of the same name that is responsible for removing copper from the body4
The mutations that cause Wilson’s disease are autosomal recessive, which means that a person with Wilson’s disease will have inherited 2 copies of a Wilson’s disease mutation, 1 from each parent7
Parents and siblings of individuals with Wilson’s disease may or may not have the disease, depending on whether they also carry 2 copies of the mutation
Someone with only 1 copy of a Wilson’s disease mutation will metabolize copper normally, but there is a risk of passing the condition onto one’s children7
Wilson’s disease is fatal if not treated, so getting a correct diagnosis is essential.4 Once it’s diagnosed, Wilson’s disease can be effectively treated with a low copper diet and medicines called chelating (pronounced “key-lating”) agents that bind to copper and carry it out of the body.4,10,14Children younger than 2 years of age and adults older than 70 years have been diagnosed with Wilson’s disease, but the disease is usually diagnosed between the ages of 5 and 35 years.4 Younger individuals may not show any symptoms, while older people are more likely to have neurological problems, as well as liver defects.4
Presentation of Wilson’s disease is different for each person. It usually affects the liver first, but if it's not diagnosed and treated, the excess copper travels through the bloodstream to other areas of the body, where it can build up and damage the nervous system, eyes, kidneys, bones, heart and other systems. The disease can also affect mood and behavior.4
Signs and Symptoms Hover your mouse or tap to learn all signs and symptoms.
Some people with Wilson’s disease may be asymptomatic, with biochemical abnormalities.4 Other patients present with evidence of chronic and/or severe liver disease.
Symptoms of liver disease include7:
Diagnostic tests may reveal:
A buildup of copper in the nervous system can damage the brain's ability to control muscles, and it can also cause other problems.4
Although liver disease usually occurs first in Wilson’s disease, some people will have nervous system problems without symptoms of liver disease.7
Neurological symptoms include4,7:
Altered brain function due to excess copper can also lead to changes in mood or behavior. Mental health symptoms may include4,7:
Copper buildup in the body may also result in the following4,7:
If you have any of these symptoms or show any of the signs described in the previous section, it's important to see your doctor right away.
Wilson's disease can be fatal if it is not treated. Once the disease is diagnosed and treated, people with well-managed Wilson’s disease can expect a normal lifespan.
Wilson’s disease is ideally diagnosed before any signs or symptoms appear.6
Healthcare professionals use a combination of a medical examination and laboratory tests to diagnose Wilson’s disease.
Some signs and symptoms, such as Kayser-Fleischer rings, when they occur with liver and neurological disease, are enough to make the diagnosis in advanced cases, but healthcare professionals will usually need blood tests and a liver biopsy to confirm Wilson’s disease.4
Genetic testing for ATP7B mutations can also be helpful to diagnose Wilson’s disease, but this test is more expensive and sometimes inconclusive, so it's usually reserved to identify family members who might also have Wilson’s disease or be Wilson’s disease carriers (meaning they have a Wilson’s disease mutation on 1 but not both copies of chromosome 13).4
Some people with Wilson’s disease may be asymptomatic, with biochemical abnormalities.4 Other patients present with evidence of chronic and/or severe liver disease.
Symptoms of liver disease include7:
Diagnostic tests may reveal:
A buildup of copper in the nervous system can damage the brain's ability to control muscles, and it can also cause other problems.4
Although liver disease usually occurs first in Wilson’s disease, some people will have nervous system problems without symptoms of liver disease.7
Neurological symptoms include4,7:
Altered brain function due to excess copper can also lead to changes in mood or behavior. Mental health symptoms may include4,7:
Copper buildup in the body may also result in the following4,7:
If you have any of these symptoms or show any of the signs described in the previous section, it's important to see your doctor right away.
Wilson's disease can be fatal if it is not treated. Once the disease is diagnosed and treated, people with well-managed Wilson’s disease can expect a normal lifespan.
Wilson’s disease is ideally diagnosed before any signs or symptoms appear.6
Healthcare professionals use a combination of a medical examination and laboratory tests to diagnose Wilson’s disease.
Some signs and symptoms, such as Kayser-Fleischer rings, when they occur with liver and neurological disease, are enough to make the diagnosis in advanced cases, but healthcare professionals will usually need blood tests and a liver biopsy to confirm Wilson’s disease.4
Genetic testing for ATP7B mutations can also be helpful to diagnose Wilson’s disease, but this test is more expensive and sometimes inconclusive, so it's usually reserved to identify family members who might also have Wilson’s disease or be Wilson’s disease carriers (meaning they have a Wilson’s disease mutation on 1 but not both copies of chromosome 13).4
Medications approved for the treatment of Wilson’s disease include chelating agents and zinc.4 Chelating agents such as SYPRINE® (trientine hydrochloride) Capsules remove copper from the organs where it has built up and pull it into the bloodstream. The kidneys then filter the copper out of the blood and into the urine. Zinc blocks absorption of copper from food in the digestive tract, but it does not help remove excess copper if it has already been absorbed.7
Treatment thus occurs in 2 phases:
2 - 6 Months
Remove copper from the organ(s), where it has built up through use of chelating agents such as SYPRINE®Lifelong
Prevent reaccumulation of copper through maintenance therapy
Avoidance of copper-rich foods, water and copper cooking utensils (especially in the first year of treatment)Copper enters our bodies through the food we eat and the water we drink, which is a good thing because our bodies need copper to function.5 However, when you have Wilson’s disease and your body can’t rid itself of excess copper, it’s important to limit your copper intake by avoiding foods with a high copper content, especially for the first year after diagnosis. Foods you should avoid (or limit) include4:
You and your doctor should also discuss any other dietary supplements or herbal preparations you are taking, or would like to take, to make sure these will not interact with your medications or worsen problems in your liver.10
Mineral supplements in particular can block absorption of SYPRINE® and should not be taken unless your doctor prescribes one for a specific problem, such as anemia due to low iron.3 It is essential to follow your healthcare professional’s advice when it comes to any potential sources of copper or drug interactions that could be harmful to you.
Blood and urine tests
Eye exam
Liver biopsy
Brain scans such as MRI
Genetic testing for ATP7B mutations
Chelating medications
Dietary changes
Usually 5-35 years old—younger individuals may not show any symptoms, while older people are more likely to have neurological problems, as well as liver defects.
The liver is usually affected first, but if Wilson’s disease is not diagnosed and treated, copper may accumulate and damage other areas of the body. Some people will have nervous system problems without symptoms of liver disease.
Blood and urine tests
Eye exam
Liver biopsy
Brain scans such as MRI
Genetic testing for ATP7B mutations
Chelating medications
Dietary changes
The WD Rx Access program offers $5 monthly co-pays, medication home delivery and one-on-one nurse coaching for eligible commercially insured patients. Enroll with the form below or click the following link to visit the official program website to learn more.
Learn MoreIf you have Wilson’s disease, you are not alone. Check out a list of groups that will help you learn more and find support among other Wilson’s disease patients and their families.
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*This offer is not valid for any person eligible for reimbursement of prescriptions, in whole or in part, by any federal, state, or other governmental programs, including, but not limited to, Medicare (including Medicare Advantage and Part A, B, and D plans), Medicaid, TRICARE, Veterans Administration or Department of Defense health coverage, CHAMPUS, the Puerto Rico Government Health Insurance Plan or any other federal or state health care programs. These patients may qualify for alternative financial assistance. These offers are only good for use with SYPRINE®. No other purchase necessary. These offers are not health insurance. These offers are not transferable. These offers are not valid with other offers. These offers have no cash value. The patient understands and agrees to comply with the terms and conditions of these offers. Program term eligibility expires December 31, 2020. Bausch Health reserves the right to rescind, revoke, terminate, or amend these offers at any time, with or without notice. For more information, call a WD Rx Access representative at 888-607-7267.
SYPRINE® (trientine hydrochloride) is used to treat Wilson's disease in patients who cannot take the medication known as penicillamine. Wilson's disease is a condition where the body stores too much copper. SYPRINE® is not recommended to treat cystinuria (a condition where a protein known as cystine is excreted into the urine), rheumatoid arthritis, or a disease affecting the bile ducts in the liver known as biliary cirrhosis.
You are encouraged to report negative side effects of prescription drugs to FDA. Visit www.FDA.gov/medwatch or call 1-800-FDA-1088.
Please click here for full Prescribing Information for SYPRINE® Capsules.
SYPRINE® (trientine hydrochloride) is used to treat Wilson's disease in patients who cannot take the medication known as penicillamine. Wilson's disease is a condition where the body stores too much copper. SYPRINE® is not recommended to treat cystinuria (a condition where a protein known as cystine is excreted into the urine), rheumatoid arthritis, or a disease affecting the bile ducts in the liver known as biliary cirrhosis.
You are encouraged to report negative side effects of prescription drugs to FDA. Visit www.FDA.gov/medwatch or call 1-800-FDA-1088.
Please click here for full Prescribing Information for SYPRINE® Capsules.
