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

Presentation of WD 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.1
 
 

Liver Disease

Some people with WD may be asymptomatic, with biochemical abnormalities.1 Other patients present with evidence of chronic and/or severe liver disease. Symptoms of liver disease include3:
Other people may have clear evidence of chronic and/or severe liver disease. Symptoms of liver disease include3:
  • 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
Diagnostic tests may reveal1:
  • 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.1
Although liver disease usually 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

A buildup of copper 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
INDICATIONS AND USAGE
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.
IMPORTANT SAFETY INFORMATION
  • Do not take Syprine if you are allergic to it or any parts of the formulation.
  • You should remain under regular medical supervision the entire time you are taking Syprine. Your doctor should regularly check to see if you have iron deficiency anemia. This is particularly important for women.
  • Take Syprine on an empty stomach, at least one hour before a meal or two hours after a meal and at least one hour apart from any other drug, food, or milk. The capsules should be swallowed whole with water and should not be opened or chewed. For the first month of treatment, take your temperature every night, and report any symptom such as fever or skin rash to your doctor.
  • Tell your doctor if you are pregnant, plan to become pregnant, or are nursing.
  • The following adverse reactions have been reported from a clinical study: iron deficiency and a condition affecting the immune system known as systemic lupus erythematosus. In addition, the following adverse reactions have been reported in marketed use: abnormal or uncontrolled muscle contractions, muscle spasm and an immune disease affecting muscles known as myasthenia gravis.
  • Do not take mineral supplements because they may block the absorption of Syprine.
Please click here to see full Prescribing Information for Syprine Capsules.
You are encouraged to report negative side effects of prescription drugs to FDA. Visit www.FDA.gov/medwatch or call 1-800-FDA-1088.
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.

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Indications and Usage

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.

Important Safety Information

  • Do not take Syprine if you are allergic to it or any parts of the formulation.
  • You should remain under regular medical supervision the entire time you are taking Syprine. Your doctor should regularly check to see if you have iron deficiency anemia. This is particularly important for women.
  • Take Syprine on an empty stomach, at least one hour before a meal or two hours after a meal and at least one hour apart from any other drug, food, or milk. The capsules should be swallowed whole with water and should not be opened or chewed. For the first month of treatment, take your temperature every night, and report any symptom such as fever or skin rash to your doctor.
  • Tell your doctor if you are pregnant, plan to become pregnant, or are nursing.
  • The following adverse reactions have been reported from a clinical study: iron deficiency and a condition affecting the immune system known as systemic lupus erythematosus. In addition, the following adverse reactions have been reported in marketed use: abnormal or uncontrolled muscle contractions, muscle spasm and an immune disease affecting muscles known as myasthenia gravis.
  • Do not take mineral supplements because they may block the absorption of Syprine.
Please click here to see full Prescribing Information for Syprine Capsules.
 

INDICATIONS AND USAGE

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.

IMPORTANT SAFETY INFORMATION

  • Do not take Syprine if you are allergic to it or any parts of the formulation.
  • You should remain under regular medical supervision the entire time you are taking Syprine. Your doctor should regularly check to see if you have iron deficiency anemia. This is particularly important for women.
  • Take Syprine on an empty stomach, at least one hour before a meal or two hours after a meal and at least one hour apart from any other drug, food, or milk. The capsules should be swallowed whole with water and should not be opened or chewed. For the first month of treatment, take your temperature every night, and report any symptom such as fever or skin rash to your doctor.
  • Tell your doctor if you are pregnant, plan to become pregnant, or are nursing.
  • The following adverse reactions have been reported from a clinical study: iron deficiency and a condition affecting the immune system known as systemic lupus erythematosus. In addition, the following adverse reactions have been reported in marketed use: abnormal or uncontrolled muscle contractions, muscle spasm and an immune disease affecting muscles known as myasthenia gravis.
  • Do not take mineral supplements because they may block the absorption of Syprine.
Please click here to see full Prescribing Information for Syprine Capsules.