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What is Wilson’s
disease?

Wilson's disease is
a genetic disorder.

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

icon 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
icon 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
icon The gene tells the body how to make a protein of the same name that is responsible for removing copper from the body4
icon 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
icon 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
icon 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
icon 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.4,8,9
icon 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
icon 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
icon The gene tells the body how to make a protein of the same name that is responsible for removing copper from the body4
icon 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
icon 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
icon 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
icon 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.4,8,9
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How do I know if
I have Wilson’s
disease?

Wilson's disease
usually affects the
liver first.

Children 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

Wilson’s disease 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.

Liver Disease

Some people with Wilson’s disease may not have any symptoms, and the first sign of the condition may be an abnormal result on a routine blood test to assess liver function.4

Other people may have clear evidence of chronic and/or severe liver disease.

Symptoms of liver disease include7:

  • Weakness
  • Fatigue or feeling tired
  • Loss of appetite
  • Nausea
  • Vomiting
  • Weight loss
  • Pain and bloating from fluid accumulating in the abdomen
  • Edema (swelling), usually in the legs, feet or ankles and less often in the hands or face
  • Itching
  • Spiderlike blood vessels, called spider angiomas near the surface of the skin
  • Muscle cramps
  • Jaundice, a condition in which the skin and whites of the eyes turn yellow

A doctor may also find4:

  • Consistently high serum aminotransferase activity (aspartate transaminase, alanine transaminase) - these are blood tests that measure the health of your liver
  • Asymptomatic hepatomegaly, in which your liver is larger than normal
  • Isolated splenomegaly, in which your spleen is larger than normal
  • Fatty liver
  • Acute hepatitis, which may give you a fever and jaundice (yellowed skin and eyes)
  • Signs of autoimmune hepatitis
  • Cirrhosis (compensated or decompensated), a serious form of liver damage
  • Acute liver failure

Neurological Disease

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:

  • Tremors or uncontrolled movements
  • Problems with physical coordination
  • Muscle stiffness
  • Problems with speech
  • Drooling or difficulty swallowing
  • Migraines
  • Trouble sleeping
  • Seizures

Mental Health Disorders

Altered brain function due to excess copper can also lead to changes in mood or behavior. Mental health symptoms may include4,7:

  • Personality changes
  • Depression
  • Anxiety or nervous feelings about most things
  • Psychosis, which is when a person loses touch with reality

Other Toxic Effects

Copper buildup in the body may also result in the following4,7:

  • Kayser-Fleischer rings - rusty brown rings around the edge of the iris (the colored part of the eye) and in the rim of the cornea; these are almost always present in people with neurological Wilson’s disease symptoms, but only about 40%-66% of people with liver symptoms alone have them
  • Anemia - the body has fewer or smaller red blood cells than normal, which reduces the amount of oxygen that reaches the body's cells
  • Arthritis - pain or swelling in 1 or more joints
  • High levels of amino acids, protein, uric acid and carbohydrates in the urine
  • Low platelet or white blood cell count
  • Osteoporosis - the bones become less dense and are more likely to fracture
  • Sunflower cataracts - sunflower-shaped clouding over the eye's lens, which does not usually interfere with vision
  • Lunuale cerueae - a blue color appearing at the base of the fingernails
  • Heart problems
  • Pancreas problems
  • Reduced thyroid function
  • Menstrual irregularities (unpredictable periods), infertility and multiple miscarriages

How is it Diagnosed?

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

What Tests are Performed?

    • Blood and urine tests to measure
    • Urine levels of copper (may also be used to monitor the effectiveness of treatments); the amount of copper in the urine is decreased in Wilson’s disease4
    • Blood levels of ceruloplasmin, the major copper-carrying protein in the blood, are often low in people with Wilson’s disease, although other conditions can also cause low levels4
    • Liver enzyme activity, which is usually mildly elevated in people with Wilson’s disease4
  • Eye exam to detect Kayser-Fleischer rings4
    • Liver biopsy to
    • Determine the amount of copper in liver tissues; the diagnosis is confirmed if copper levels are >250 μg/g of liver4
    • Detect steatosis, or fatty liver4
  • Brain scans such as computed tomography and magnetic resonance imaging to detect brain abnormalities in those with neurological or psychiatric symptoms4
  • Genetic testing to detect mutations of the ATP7B gene; more than 500 mutations have been identified4,6

Liver Disease

Some people with Wilson’s disease may not have any symptoms, and the first sign of the condition may be an abnormal result on a routine blood test to assess liver function.4

Other people may have clear evidence of chronic and/or severe liver disease.

Symptoms of liver disease include7:

  • Weakness
  • Fatigue or feeling tired
  • Loss of appetite
  • Nausea
  • Vomiting
  • Weight loss
  • Pain and bloating from fluid accumulating in the abdomen
  • Edema (swelling), usually in the legs, feet or ankles and less often in the hands or face
  • Itching
  • Spiderlike blood vessels, called spider angiomas near the surface of the skin
  • Muscle cramps
  • Jaundice, a condition in which the skin and whites of the eyes turn yellow

A doctor may also find4:

  • Consistently high serum aminotransferase activity (aspartate transaminase, alanine transaminase) - these are blood tests that measure the health of your liver
  • Asymptomatic hepatomegaly, in which your liver is larger than normal
  • Isolated splenomegaly, in which your spleen is larger than normal
  • Fatty liver
  • Acute hepatitis, which may give you a fever and jaundice (yellowed skin and eyes)
  • Signs of autoimmune hepatitis
  • Cirrhosis (compensated or decompensated), a serious form of liver damage
  • Acute liver failure

Neurological Disease

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:

  • Tremors or uncontrolled movements
  • Problems with physical coordination
  • Muscle stiffness
  • Problems with speech
  • Drooling or difficulty swallowing
  • Migraines
  • Trouble sleeping
  • Seizures

Mental Health Disorders

Altered brain function due to excess copper can also lead to changes in mood or behavior. Mental health symptoms may include4,7:

  • Personality changes
  • Depression
  • Anxiety or nervous feelings about most things
  • Psychosis, which is when a person loses touch with reality

Other Toxic Effects

Copper buildup in the body may also result in the following4,7:

  • Kayser-Fleischer rings - rusty brown rings around the edge of the iris (the colored part of the eye) and in the rim of the cornea; these are almost always present in people with neurological Wilson’s disease symptoms, but only about 40%-66% of people with liver symptoms alone have them
  • Anemia - the body has fewer or smaller red blood cells than normal, which reduces the amount of oxygen that reaches the body's cells
  • Arthritis - pain or swelling in 1 or more joints
  • High levels of amino acids, protein, uric acid and carbohydrates in the urine
  • Low platelet or white blood cell count
  • Osteoporosis - the bones become less dense and are more likely to fracture
  • Sunflower cataracts - sunflower-shaped clouding over the eye's lens, which does not usually interfere with vision
  • Lunuale cerueae - a blue color appearing at the base of the fingernails
  • Heart problems
  • Pancreas problems
  • Reduced thyroid function
  • Menstrual irregularities (unpredictable periods), infertility and multiple miscarriages

How is it Diagnosed?

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

What Tests are Performed?

  • Blood and urine tests to measure

    Urine levels of copper (may also be used to monitor the effectiveness of treatments); the amount of copper in the urine is decreased in Wilson’s disease4
  • Blood levels of ceruloplasmin, the major copper-carrying protein in the blood, are often low in people with Wilson’s disease, although other conditions can also cause low levels4
  • Liver enzyme activity, which is usually mildly elevated in people with Wilson’s disease4
  • Eye exam to detect Kayser-Fleischer rings4
  • Liver biopsy to

    Determine the amount of copper in liver tissues; the diagnosis is confirmed if copper levels are >250 μg/g of liver4

    Detect steatosis, or fatty liver4
  • Brain scans such as computed tomography and magnetic resonance imaging to detect brain abnormalities in those with neurological or psychiatric symptoms4
  • Genetic testing to detect mutations of the ATP7B gene; more than 500 mutations have been identified4,6
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What are my
treatment options?

Medications approved for the treatment of Wilson's disease include chelating agents and zinc.

The medications prescribed by your doctors must be taken every day for the rest of your life6—in a study of 11 Wilson’s disease patients who stopped taking their copper-removal medication, 8 died of liver disease within 2 and a half years.10 In the same study, another group of 13 patients had to stop taking 1 copper-removal medication, but started another. In this case, all of the patients except 1 who died in a car accident were still alive at the time the study report was published, 2–15 years after they stopped taking the first medicine.10

Medications approved for the treatment of Wilson’s disease include chelating agents and zinc. Chelating agents such as CUPRIMINE® (penicillamine) 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:

icon

2 - 6 Months

Remove copper from the organ(s) where it has built up through use of chelating agents such as CUPRIMINE®
icon

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)

Diet and Nutrition

Food Choices

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:

  • Shellfish
  • Chocolate
  • Organ meat (e.g., liver paté, tripe, sweetbreads)
  • Nuts
  • Mushrooms

Water

  • People with Wilson’s disease should avoid using copper containers for cooking, serving or storing food7
  • If your tap water runs through copper pipes or comes from a well, be sure to run the water for a while before using any, as this should reduce any copper residues to acceptable levels7

Vitamins and Dietary Supplements

  • Talk to your doctor before taking a multivitamin, and if he or she approves, ask your pharmacist to recommend one that does not contain copper9
  • If you are a woman who is pregnant or is planning to become pregnant, you should ask your obstetrician to consult with your Wilson’s disease specialist before prescribing prenatal vitamins9
  • Many prenatal vitamins contain a lot of copper and it’s important to find a brand that does not9

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.9

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.

icon 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.
icon 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.
icon

Blood and urine tests

Eye exam

Liver biopsy

Brain scans such as MRI

Genetic testing for ATP7B mutations

icon

Chelating medications

Dietary changes

icon 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.
icon 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.
icon

Blood and urine tests

Eye exam

Liver biopsy

Brain scans such as MRI

Genetic testing for ATP7B mutations

icon

Chelating medications

Dietary changes

WD Rx Access

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.

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Indication

CUPRIMINE® (Penicillamine) Capsules are used to treat Wilson's disease (a disease where there is too much copper in the body), cystinuria (a disease where an excess amount of certain proteins are in the urine) and patients with severe, active rheumatoid arthritis who have not had a response to other therapy. Not enough evidence is available to see an effect on treatment of ankylosing spondylitis.

Important Safety Information

WARNING: You should be under the close supervision of your doctor when you are taking CUPRIMINE. Report any side effects promptly to your doctor.

  • Do not take CUPRIMINE if you are pregnant unless you are taking CUPRIMINE to treat Wilson’s disease (too much copper in the body) or cystinuria (too much protein in the urine). Mothers on therapy with penicillamine should not nurse their infants.
  • CUPRIMINE can cause serious blood disorders, and some can be fatal. If you have had aplastic anemia (anemia due to lack of all blood cells) or agranulocytosis (lack of certain white blood cells) and it was related to taking CUPRIMINE, you should not take it again.
  • CUPRIMINE can cause kidney damage and should not be used to treat rheumatoid arthritis if you have a history of kidney disease. If you take CUPRIMINE to treat cystinuria, routine analysis of your urine may be necessary and you should have an x-ray every year to check for kidney stones.
  • CUPRIMINE can be associated with fatalities due to other diseases such as Goodpasture’s syndrome (an immune disease that attacks the lungs and kidneys) and myasthenia gravis (an immune disease affecting the muscles). Your doctor may order blood analysis on a regular basis.
  • CUPRIMINE can affect how your liver works. Tests to determine how your liver is working should be done regularly.
  • Tell your doctor right away if you experience: blood in your urine, unexplained cough or wheezing, coughing up blood, shortness of breath, muscle weakness, drooping eyelids, double vision, watery blisters on the skin or other rash, fever, joint pain, swollen lymph nodes, mouth ulcers, or diminished taste.
  • CUPRIMINE is a drug that has many side effects, and some can be fatal. Other side effects that can occur include serious lung problems, nervous system symptoms, diseases of the skin and mucous membranes known as pemphigus, allergic reactions (including a condition known as drug fever as well as skin rashes), mouth ulcers, and loss of taste. Talk to your doctor if you experience side effects and also about possible side effects that could occur. Ask your doctor or pharmacist for product labeling written for professionals for a full list of potential adverse reactions.
  • Tell your doctor about all other medicines (prescription and over-the-counter, including vitamins and herbal supplements) that you are taking. Some medicines (such as gold therapy, antimalarial or cancer drugs, oxyphenbutazone or phenylbutazone) should not be used with CUPRIMINE because they also may cause serious liver and kidney side effects.

Please click here for full Prescribing Information including Boxed Warning.

Indication
Indication

CUPRIMINE® (Penicillamine) Capsules are used to treat Wilson's disease (a disease where there is too much copper in the body), cystinuria (a disease where an excess amount of certain proteins are in the urine) and patients with severe, active rheumatoid arthritis who have not had a response to other therapy. Not enough evidence is available to see an effect on treatment of ankylosing spondylitis.

Important Safety Information
Important Safety Information

WARNING: You should be under the close supervision of your doctor when you are taking CUPRIMINE. Report any side effects promptly to your doctor.

  • Do not take CUPRIMINE if you are pregnant unless you are taking CUPRIMINE to treat Wilson’s disease (too much copper in the body) or cystinuria (too much protein in the urine). Mothers on therapy with penicillamine should not nurse their infants.
  • CUPRIMINE can cause serious blood disorders, and some can be fatal. If you have had aplastic anemia (anemia due to lack of all blood cells) or agranulocytosis (lack of certain white blood cells) and it was related to taking CUPRIMINE, you should not take it again.
  • CUPRIMINE can cause kidney damage and should not be used to treat rheumatoid arthritis if you have a history of kidney disease. If you take CUPRIMINE to treat cystinuria, routine analysis of your urine may be necessary and you should have an x-ray every year to check for kidney stones.
  • CUPRIMINE can be associated with fatalities due to other diseases such as Goodpasture’s syndrome (an immune disease that attacks the lungs and kidneys) and myasthenia gravis (an immune disease affecting the muscles). Your doctor may order blood analysis on a regular basis.
  • CUPRIMINE can affect how your liver works. Tests to determine how your liver is working should be done regularly.
  • Tell your doctor right away if you experience: blood in your urine, unexplained cough or wheezing, coughing up blood, shortness of breath, muscle weakness, drooping eyelids, double vision, watery blisters on the skin or other rash, fever, joint pain, swollen lymph nodes, mouth ulcers, or diminished taste.
  • CUPRIMINE is a drug that has many side effects, and some can be fatal. Other side effects that can occur include serious lung problems, nervous system symptoms, diseases of the skin and mucous membranes known as pemphigus, allergic reactions (including a condition known as drug fever as well as skin rashes), mouth ulcers, and loss of taste. Talk to your doctor if you experience side effects and also about possible side effects that could occur. Ask your doctor or pharmacist for product labeling written for professionals for a full list of potential adverse reactions.
  • Tell your doctor about all other medicines (prescription and over-the-counter, including vitamins and herbal supplements) that you are taking. Some medicines (such as gold therapy, antimalarial or cancer drugs, oxyphenbutazone or phenylbutazone) should not be used with CUPRIMINE because they also may cause serious liver and kidney side effects.

Please click here for full Prescribing Information including Boxed Warning.