How Do I Know if I Have Wilson’s Disease?

Age of Onset

  • Children younger than 2 years of age and adults older than 70 years have been diagnosed with Wilson’s disease (WD), but the disease is usually diagnosed between the ages of 5 and 35 years1
  • Younger individuals may not show any symptoms, while older people are more likely to have neurological problems, as well as liver defects1

Signs and Symptoms

WD 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.1
 
 

Liver Disease

Some people with WD 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.1
Other people may have clear evidence of chronic and/or severe liver disease. Symptoms of liver disease include2:
  • 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 find1:
  • 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), o 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.1
Although liver disease ucually occurs first in WD, some people will have nervous system problems without symptoms of liver disease.2
Neurological symptoms include1,2:
  • 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 include1,2:
  • 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 following1,2:
  • 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 WD 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 Wilson's Disease 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 (WD) can be fatal if it is not treated. Once the disease is diagnosed and treated, people with well-managed WD can expect a normal lifespan.
WD is ideally diagnosed before any signs or symptoms appear.3
Healthcare professionals use a combination of a medical examination and laboratory tests to diagnose WD.
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 WD.1
Genetic testing for ATP7B mutations can also be helpful to diagnose WD, but this test is more expensive and sometimes inconclusive, so it's usually reserved to identify family members who might also have WD or be WD carriers (meaning they have a WD mutation on 1 but not both copies of chromosome 13).1
 

Tests healthcare professionals might perform include

  • 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 WD1
    • Blood levels of ceruloplasmin, the major copper-carrying protein in the blood, are often low in people with WD, although other conditions can also cause low levels1
    • Liver enzyme activity, which is usually mildly elevated in people with WD1
  • Eye exam to detect Kayser-Fleischer rings1
  • Liver biopsy to
    • Determine the amount of copper in liver tissues; the diagnosis is confirmed if copper levels are > 250 μg/g of liver1
    • Detect steatosis, or fatty liver1
  • Brain scans such as computed tomography and magnetic resonance imaging to detect brain abnormalities in those with neurological or psychiatric symptoms1
  • Genetic testing to detect mutations of the ATP7B gene; more than 500 mutations have been identified1,3

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 in 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.
You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.FDA.gov/medwatch or call 1-800-FDA-1088.
Please click here to see full Prescribing Information for Cuprimine  capsules.
References
  1. Roberts EA, Schilsky ML. AASLD Practice Guidelines. Diagnosis and treatment of Wilson disease: an update. Hepatology. 2008;47(6):2089-2111.
  2. National Institute of Diabetes and Digestive and Kidney Diseases. Wilson disease. http://www.niddk.nih.gov/health-information/health-topics/digestive-diseases/wilson-disease/Pages/facts.aspx#sec10. Accessed May 25, 2016.
  3. Rodriguez-Castro KI, Hevia-Urrutia FJ, Sturniolo GC. Wilson's disease: a review of what we have learned. World J Hepatol. 2015;7(29):2859-2870.

©2016 Valeant Pharmaceuticals North America LLC. All Rights Reserved. CUP.0032.USA.16

 

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 in 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.
You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.FDA.gov/medwatch or call 1-800-FDA-1088.
Please click here to see full Prescribing Information for Cuprimine capsules.
 

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 in 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.
You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.FDA.gov/medwatch or call 1-800-FDA-1088.
Please click here to see full Prescribing Information for Cuprimine capsules.