Wilson's Disease

Wilson's Disease Lab Tests and health information

Do you want to know if you have too much copper in your blood because of Wilson's disease?

Copper levels and liver function can be checked with Wilson's disease tests.

Wilson's disease is a hereditary condition in which the body retains too much copper, causing it to build up in the liver, brain, and other essential organs. Liver difficulties, brain and nerve damage, and behavioral disorders are all symptoms. If left untreated, it can be lethal. Blood tests are the only way to detect this illness. A lab test can help you monitor your liver function and determine the level of ceruloplasmin, a protein that binds copper in the blood, as well as the amount of copper in your blood. For this condition, there are treatments available. Wilson's disease is diagnosed with a lab test like ours, which is the first step in treatment.

You can get tested right now if you think you might have Wilson's Disease. It's critical not to postpone diagnosis since, if identified early enough, therapies might reduce or stop more damage before it becomes permanent! You should also have an eye exam every year with dilation because many people with Wilson’s disease have changes in their eyes as well.

Our lab tests will help you monitor your liver function and determine the level of ceruloplasmin, a protein that binds copper in the blood, as well as the amount of copper in your blood. Your test result will show if any of these values are abnormal or out of range.

It's possible that this will save your life! Please don't put it off any longer; buy our lab test now!

Click on the article below for additional information about Wilson's illness and lab tests.


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Description: Ceruloplasmin is a blood test that measures that amount of Ceruloplasmin in the blood’s serum. Ceruloplasmin, or Copper Oxide, is a protein that is created in the liver and is used to transport copper from the liver to the parts of the body that need it, including the blood.

Also Known As: Copper Oxide Test, Wilson’s Disease Test

Collection Method: Blood Draw

Specimen Type: Serum

Test Preparation: No preparation required

When is a Ceruloplasmin test ordered?

When somebody has symptoms that a health practitioner suspects are due to Wilson disease, a ceruloplasmin test may be ordered alone or in combination with blood and 24-hour urine copper testing.

What does a Ceruloplasmin blood test check for?

Ceruloplasmin is a copper-containing enzyme that aids in iron metabolism in the body. The level of ceruloplasmin in the blood is measured with this test.

Copper is a vital mineral that regulates iron metabolism, connective tissue creation, cellular energy production, and nervous system function. The intestines absorb it from meals and liquids, and it is subsequently transferred to the liver, where it is stored or used to make a variety of enzymes.

To make ceruloplasmin, the liver binds copper to a protein and then releases it into the bloodstream. Ceruloplasmin binds about 95 percent of the copper in the blood. As a result, the ceruloplasmin test can be performed in conjunction with one or more copper tests to assist diagnose Wilson disease, a genetic illness in which the liver, brain, and other organs store too much copper.

Lab tests often ordered with a Ceruloplasmin test:

  • Copper

Conditions where a Ceruloplasmin test is recommended:

  • Wilson’s Disease
  • Liver Diseases

How does my health care provider use a Ceruloplasmin test?

Wilson disease is a rare genetic ailment characterized by excessive copper accumulation in the liver, brain, and other organs, as well as low levels of ceruloplasmin. Ceruloplasmin testing is performed in conjunction with blood and/or urine copper assays to assist diagnosis Wilson disease.

Copper is a mineral that plays an important role in the human body. Ceruloplasmin binds about 95 percent of the copper in the blood. In an unbound state, just a minimal quantity of copper is present in the blood.

A ceruloplasmin test may be ordered in conjunction with a copper test to assist diagnose problems in copper metabolism, copper deficiency, or Menkes kinky hair syndrome, a rare genetic condition.

What do my Ceruloplasmin test results mean?

Ceruloplasmin levels are frequently tested in conjunction with copper testing because they are not indicative of a specific illness.

Wilson disease can be identified by low ceruloplasmin and blood copper levels, as well as high copper levels in the urine.

About 5% of persons with Wilson disease who have neurological symptoms, as well as up to 40% of those with hepatic symptoms, especially if they are critically unwell, will have normal ceruloplasmin levels.

The person tested may have a copper deficiency if ceruloplasmin, urine, and/or blood copper values are low.

Anything that affects the body's ability to metabolize copper or the supply of copper has the potential to impact blood ceruloplasmin and copper levels.

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.


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Description: Copper is a blood test that measures the amount of copper in the blood's plasma. Copper levels in the blood can help to diagnose Wilson's Disease.

Also Known As: Cu Test, Blood Copper Test, Free Copper Test, Hepatic Copper Test, Copper Serum Test, Copper Plasma Test, Copper Blood Test

Collection Method: Blood Draw

Specimen Type: Plasma or Serum

Test Preparation: No preparation required

When is a Copper test ordered?

When a health practitioner suspects Wilson disease, excess copper storage, or copper poisoning, one or more copper tests are requested along with ceruloplasmin.

When copper and ceruloplasmin results are abnormal or inconclusive, a hepatic copper test may be conducted to further evaluate copper storage.

What does a Copper blood test check for?

Copper is an important mineral that the body uses to make enzymes. These enzymes are involved in the regulation of iron metabolism, the development of connective tissue, cellular energy production, the production of melanin, and nervous system function. This test determines how much copper is present in the blood, urine, or liver.

Nuts, chocolate, mushrooms, seafood, whole grains, dried fruits, and liver are all high in copper. Copper may be absorbed into drinking water as it passes through copper pipes, and copper may be absorbed into food as it is cooked or served on copper dishes. Copper is absorbed from food or liquids in the intestines, converted to a non-toxic form by binding it to a protein, and transported to the liver in normal circumstances. To make the enzyme ceruloplasmin, the liver saves some copper and binds the remainder to another protein called apoceruloplasmin. Ceruloplasmin binds about 95 percent of the copper in the blood, with the rest attached to other proteins like albumin. In a free condition, only a little amount is present in the blood. Excess copper is excreted by the liver in the bile, which is then excreted by the body in the feces. Copper is also excreted in the urine in small amounts.

Copper excess and deficiency are uncommon. Wilson disease is a rare genetic ailment that causes the liver, brain, and other organs to store too much copper. Excess copper can arise when a person is exposed to and absorbs high amounts of copper in a short period of time or little amounts over a long period of time.

Copper deficiency can arise in patients with severe malabsorption diseases such cystic fibrosis and celiac disease, as well as infants who are exclusively fed cow-milk formulas.

Menkes kinky hair syndrome is a rare X-linked hereditary disorder that causes copper shortage in the brain and liver of affected babies. Seizures, delayed development, aberrant artery growth in the brain, and unique gray brittle kinky hair are all symptoms of the condition, which mostly affects men.

Lab tests often ordered with a Copper test:

  • Ceruloplasmin
  • Heavy Metals
  • ACTH
  • Aldosterone
  • 17-Hydroprogesterone
  • Growth Hormone

Conditions where a Copper test is recommended:

  • Wilson Disease
  • Malnutrition

How does my health care provider use a Copper test?

Copper testing is largely used to detect Wilson disease, a rare genetic ailment in which the liver, brain, and other organs accumulate an excessive amount of copper. A copper test is less usually used to detect copper excess caused by another ailment, to diagnose a copper deficit, or to track treatment for one of these conditions.

Copper is a necessary mineral, but too much of it can be harmful. The majority of it is bound to the enzyme ceruloplasmin in the blood, leaving only a little quantity "free" or unbound.

A whole blood copper test is usually ordered in conjunction with a ceruloplasmin level. If the findings of these tests are abnormal or ambiguous, a 24-hour urine copper test to monitor copper elimination and/or a copper test on a liver biopsy to check copper storage in the liver may be conducted.

A free blood copper test is sometimes ordered as well. If Wilson disease is suspected, genetic testing for mutations in the ATP7B gene may be undertaken. However, these tests are only available in a restricted number of locations and are usually carried out in specialized reference or research laboratories.

A copper test may be used to identify Menkes kinky hair syndrome, a rare inherited copper transport failure condition.

What do my Copper test results mean?

Copper test findings are frequently linked to ceruloplasmin levels and considered in context. Copper results that are abnormal are not indicative of a specific illness; rather, they signal that more research is needed. Because ceruloplasmin is an acute phase reactant, it might be raised if inflammation or severe infections are present, making interpretation difficult. Ceruloplasmin and copper levels rise during pregnancy, as well as with the use of estrogen and oral contraceptives.

Wilson disease is characterized by low blood copper concentrations, elevated urine copper levels, low ceruloplasmin levels, and increased liver copper.

Elevated copper concentrations in the blood and urine, as well as normal or increased ceruloplasmin levels, may suggest excessive copper exposure or be linked to disorders that reduce copper excretion, such as chronic liver disease, or release copper from tissues, such as acute hepatitis. Chronic diseases can cause an increase in hepatic copper levels.

Copper deficiency is indicated by lower copper concentrations in the blood and urine, as well as lower ceruloplasmin levels.

A normal hepatic copper test could mean that copper metabolism is normal, or that the distribution of copper in the liver is uneven, and that the sample isn't reflective of the person's health.

If a person is being treated for Wilson disease or copper toxicity with copper-binding medicines, their 24-hour urine copper levels may be high until their body copper stores are depleted. Copper concentrations in the blood and urine should return to normal over time.

If a person is being treated for a copper deficient disorder and their ceruloplasmin and total copper levels start to rise, the condition is likely responding to the treatment.

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.


Copper is an essential element that is a cofactor of many enzymes. Copper metabolism is disturbed in Wilson's disease, Menkes disease, primary biliary cirrhosis, and Indian childhood cirrhosis. Urinary copper concentrations are also useful to monitor patients on chealation therapy

Description: Copper Blood is a blood test that measures the amount of copper in the blood. Copper levels in the blood can help to diagnose Wilson's Disease.

Also Known As: Cu Blood Test, Cu Test, Blood Copper Test, Hepatic Copper Test, Copper Free Test

Collection Method: Blood Draw

Specimen Type: Whole blood

Test Preparation: No preparation required

When is a Copper Blood test ordered?

When a health practitioner suspects Wilson disease, excess copper storage, or copper poisoning, one or more copper tests are requested along with ceruloplasmin.

When copper and ceruloplasmin results are abnormal or inconclusive, a hepatic copper test may be conducted to further evaluate copper storage.

What does a Copper blood test check for?

Copper is an important mineral that the body uses to make enzymes. These enzymes are involved in the regulation of iron metabolism, the development of connective tissue, cellular energy production, the production of melanin, and nervous system function. This test determines how much copper is present in the blood, urine, or liver.

Nuts, chocolate, mushrooms, seafood, whole grains, dried fruits, and liver are all high in copper. Copper may be absorbed into drinking water as it passes through copper pipes, and copper may be absorbed into food as it is cooked or served on copper dishes. Copper is absorbed from food or liquids in the intestines, converted to a non-toxic form by binding it to a protein, and transported to the liver in normal circumstances. To make the enzyme ceruloplasmin, the liver saves some copper and binds the remainder to another protein called apoceruloplasmin. Ceruloplasmin binds about 95 percent of the copper in the blood, with the rest attached to other proteins like albumin. In a free condition, only a little amount is present in the blood. Excess copper is excreted by the liver in the bile, which is then excreted by the body in the feces. Copper is also excreted in the urine in small amounts.

Copper excess and deficiency are uncommon. Wilson disease is a rare genetic ailment that causes the liver, brain, and other organs to store too much copper. Excess copper can arise when a person is exposed to and absorbs high amounts of copper in a short period of time or little amounts over a long period of time.

Copper deficiency can arise in patients with severe malabsorption diseases such cystic fibrosis and celiac disease, as well as infants who are exclusively fed cow-milk formulas.

Menkes kinky hair syndrome is a rare X-linked hereditary disorder that causes copper shortage in the brain and liver of affected babies. Seizures, delayed development, aberrant artery growth in the brain, and unique gray brittle kinky hair are all symptoms of the condition, which mostly affects men.

Lab tests often ordered with a Copper Blood test:

  • Ceruloplasmin
  • Heavy Metals
  • ACTH
  • Aldosterone
  • 17-Hydroprogesterone
  • Growth Hormone

Conditions where a Copper Blood test is recommended:

  • Wilson Disease
  • Malnutrition

How does my health care provider use a Copper Blood test?

Copper testing is largely used to detect Wilson disease, a rare genetic ailment in which the liver, brain, and other organs accumulate an excessive amount of copper. A copper test is less usually used to detect copper excess caused by another ailment, to diagnose a copper deficit, or to track treatment for one of these conditions.

Copper is a necessary mineral, but too much of it can be harmful. The majority of it is bound to the enzyme ceruloplasmin in the blood, leaving only a little quantity "free" or unbound.

A whole blood copper test is usually ordered in conjunction with a ceruloplasmin level. If the findings of these tests are abnormal or ambiguous, a 24-hour urine copper test to monitor copper elimination and/or a copper test on a liver biopsy to check copper storage in the liver may be conducted.

A free blood copper test is sometimes ordered as well. If Wilson disease is suspected, genetic testing for mutations in the ATP7B gene may be undertaken. However, these tests are only available in a restricted number of locations and are usually carried out in specialized reference or research laboratories.

A copper test may be used to identify Menkes kinky hair syndrome, a rare inherited copper transport failure condition.

What do my Copper Blood test results mean?

Copper test findings are frequently linked to ceruloplasmin levels and considered in context. Copper results that are abnormal are not indicative of a specific illness; rather, they signal that more research is needed. Because ceruloplasmin is an acute phase reactant, it might be raised if inflammation or severe infections are present, making interpretation difficult. Ceruloplasmin and copper levels rise during pregnancy, as well as with the use of estrogen and oral contraceptives.

Wilson disease is characterized by low blood copper concentrations, elevated urine copper levels, low ceruloplasmin levels, and increased liver copper.

Elevated copper concentrations in the blood and urine, as well as normal or increased ceruloplasmin levels, may suggest excessive copper exposure or be linked to disorders that reduce copper excretion, such as chronic liver disease, or release copper from tissues, such as acute hepatitis. Chronic diseases can cause an increase in hepatic copper levels.

Copper deficiency is indicated by lower copper concentrations in the blood and urine, as well as lower ceruloplasmin levels.

A normal hepatic copper test could mean that copper metabolism is normal, or that the distribution of copper in the liver is uneven, and that the sample isn't reflective of the person's health.

If a person is being treated for Wilson disease or copper toxicity with copper-binding medicines, their 24-hour urine copper levels may be high until their body copper stores are depleted. Copper concentrations in the blood and urine should return to normal over time.

If a person is being treated for a copper deficient disorder and their ceruloplasmin and total copper levels start to rise, the condition is likely responding to the treatment.

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.


Description: Copper RBC is a blood test that measures the amount of copper in the blood's red blood cells. Copper levels in the blood can help to diagnose Wilson's Disease.

Also Known As: Cu RBC Test, Cu Test, Blood Copper Test, RBC Copper Test, Hepatic Copper Test, Copper Blood Test

Collection Method: Blood Draw

Specimen Type: Red Blood Cells

Test Preparation: No preparation required

When is a Copper RBC test ordered?

When a health practitioner suspects Wilson disease, excess copper storage, or copper poisoning, one or more copper tests are requested along with ceruloplasmin.

When copper and ceruloplasmin results are abnormal or inconclusive, a hepatic copper test may be conducted to further evaluate copper storage.

What does a Copper RBC blood test check for?

Copper is an important mineral that the body uses to make enzymes. These enzymes are involved in the regulation of iron metabolism, the development of connective tissue, cellular energy production, the production of melanin, and nervous system function. This test determines how much copper is present in the blood, urine, or liver.

Nuts, chocolate, mushrooms, seafood, whole grains, dried fruits, and liver are all high in copper. Copper may be absorbed into drinking water as it passes through copper pipes, and copper may be absorbed into food as it is cooked or served on copper dishes. Copper is absorbed from food or liquids in the intestines, converted to a non-toxic form by binding it to a protein, and transported to the liver in normal circumstances. To make the enzyme ceruloplasmin, the liver saves some copper and binds the remainder to another protein called apoceruloplasmin. Ceruloplasmin binds about 95 percent of the copper in the blood, with the rest attached to other proteins like albumin. In a free condition, only a little amount is present in the blood. Excess copper is excreted by the liver in the bile, which is then excreted by the body in the feces. Copper is also excreted in the urine in small amounts.

Copper excess and deficiency are uncommon. Wilson disease is a rare genetic ailment that causes the liver, brain, and other organs to store too much copper. Excess copper can arise when a person is exposed to and absorbs high amounts of copper in a short period of time or little amounts over a long period of time.

Copper deficiency can arise in patients with severe malabsorption diseases such cystic fibrosis and celiac disease, as well as infants who are exclusively fed cow-milk formulas.

Menkes kinky hair syndrome is a rare X-linked hereditary disorder that causes copper shortage in the brain and liver of affected babies. Seizures, delayed development, aberrant artery growth in the brain, and unique gray brittle kinky hair are all symptoms of the condition, which mostly affects men.

Lab tests often ordered with a Copper RBC test:

  • Ceruloplasmin
  • Heavy Metals
  • ACTH
  • Aldosterone
  • 17-Hydroprogesterone
  • Growth Hormone

Conditions where a Copper RBC test is recommended:

  • Wilson Disease
  • Malnutrition

How does my health care provider use a Copper RBC test?

Copper testing is largely used to detect Wilson disease, a rare genetic ailment in which the liver, brain, and other organs accumulate an excessive amount of copper. A copper test is less usually used to detect copper excess caused by another ailment, to diagnose a copper deficit, or to track treatment for one of these conditions.

Copper is a necessary mineral, but too much of it can be harmful. The majority of it is bound to the enzyme ceruloplasmin in the blood, leaving only a little quantity "free" or unbound.

A whole blood copper test is usually ordered in conjunction with a ceruloplasmin level. If the findings of these tests are abnormal or ambiguous, a 24-hour urine copper test to monitor copper elimination and/or a copper test on a liver biopsy to check copper storage in the liver may be conducted.

A free blood copper test is sometimes ordered as well. If Wilson disease is suspected, genetic testing for mutations in the ATP7B gene may be undertaken. However, these tests are only available in a restricted number of locations and are usually carried out in specialized reference or research laboratories.

A copper test may be used to identify Menkes kinky hair syndrome, a rare inherited copper transport failure condition.

What do my Copper RBC test results mean?

Copper test findings are frequently linked to ceruloplasmin levels and considered in context. Copper results that are abnormal are not indicative of a specific illness; rather, they signal that more research is needed. Because ceruloplasmin is an acute phase reactant, it might be raised if inflammation or severe infections are present, making interpretation difficult. Ceruloplasmin and copper levels rise during pregnancy, as well as with the use of estrogen and oral contraceptives.

Wilson disease is characterized by low blood copper concentrations, elevated urine copper levels, low ceruloplasmin levels, and increased liver copper.

Elevated copper concentrations in the blood and urine, as well as normal or increased ceruloplasmin levels, may suggest excessive copper exposure or be linked to disorders that reduce copper excretion, such as chronic liver disease, or release copper from tissues, such as acute hepatitis. Chronic diseases can cause an increase in hepatic copper levels.

Copper deficiency is indicated by lower copper concentrations in the blood and urine, as well as lower ceruloplasmin levels.

A normal hepatic copper test could mean that copper metabolism is normal, or that the distribution of copper in the liver is uneven, and that the sample isn't reflective of the person's health.

If a person is being treated for Wilson disease or copper toxicity with copper-binding medicines, their 24-hour urine copper levels may be high until their body copper stores are depleted. Copper concentrations in the blood and urine should return to normal over time.

If a person is being treated for a copper deficient disorder and their ceruloplasmin and total copper levels start to rise, the condition is likely responding to the treatment.

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.


Description: The Troponin I test is a blood test that is used to detect Troponin I which is part of a Troponin protein complex that regulates striated muscle contraction.

Also Known As: TnI Test, cTnI Test, Troponin Test

Collection Method: Blood Draw

Specimen Type: Serum

Test Preparation: No preparation required

When is a Troponin I test ordered?

When a patient with a suspected heart attack initially enters the emergency room, a troponin test is typically requested. This is followed by a series of troponin tests carried out over several hours.

What does a Troponin I test check for?

Muscle contraction is caused by a family of proteins called troponins, which are present in heart and skeletal muscle fibers. To help identify heart damage, troponin tests evaluate the blood's concentration of cardiac-specific troponin.

Troponin C, T, and I are the three different types of troponin proteins. By attaching to calcium, troponin C sends troponin I to the site of contraction, allowing the two proteins that shorten the muscle fiber to interact. The troponin complex is fixed to the arrangement of muscle fibers by troponin T. The types of troponin I and troponin T are different, but there is little to no difference in troponin C between skeletal and cardiac muscle. Troponin T or troponin I, which are cardiac-specific, can be measured in the blood to assist determine who has had heart injury.

In the blood, troponin often exists in negligible to undetectable levels. Troponin is released into the blood when cardiac muscle cells are damaged. The concentration in the blood increases with the degree of injury. Troponin tests are mostly used to assist establish whether a person has had a heart attack. They might be useful in assessing someone for other types of cardiac damage as well.

Cardiovascular-specific troponin I levels can rise in the blood within 3 to 4 hours of a heart attack and may continue to rise for 10 to 14 days.

Lab tests often ordered with a Troponin I test:

  • Myoglobin
  • CK
  • CK-MB
  • Hs-CRP

Conditions where a Troponin I test is recommended:

  • Heart Attack
  • Heart Disease
  • Angina

How does my health care provider use a Troponin I test?

Troponin tests are typically requested to assist distinguish between a heart attack and other illnesses that present with similar symptoms.

When the heart is injured, the heart muscle proteins troponin I and troponin T are released into the circulation.

Troponin tests are occasionally used to assess patients for heart damage resulting from reasons other than a heart attack or to differentiate between signs and symptoms like chest pain that could be caused by other conditions. If the signs and symptoms of angina worsen, testing may also be performed to determine the condition.

Troponin tests may be requested in conjunction with cardiac biomarkers like CK-MB or myoglobin. However, because it is more accurate in detecting cardiac damage than other tests and stays raised for a longer length of time, troponin I is the recommended test for a suspected heart attack.

What do my Troponin I test results mean?

Even small increases in troponin levels can signal some degree of heart injury, as can a high troponin level. It is likely that a person has had a heart attack or other type of cardiac injury if they have considerably raised troponin levels and, in particular, a spike in the results after a series of tests performed over several hours. After a heart attack, troponin levels can rise in the blood within 3 to 4 hours and can continue to rise for 10 to 14 days.

An raised troponin level in angina sufferers may be a sign that their condition is deteriorating and that they are more likely to experience a heart attack.

Additionally, myocarditis, cardiac weakness, congestive heart failure, as well as illnesses unrelated to the heart, like severe infections and kidney disease, can cause an increase in troponin levels.

It is doubtful that a person's heart has been hurt if their troponin levels are normal over the course of several hours of measurements. The reason of the signs and symptoms may not be related to the heart.

Injections, accidents, and medications that can harm muscles do not influence cardiac troponin levels because troponin tests measure troponin that is specific to the heart muscle and are therefore unaffected by damage to skeletal muscles. Although troponin levels may increase after intense activity, they typically have no medical relevance when there are no heart disease symptoms present.

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.


Zinc, Copper and Ceruloplasmin Panel contains: Zinc, Copper and Ceruloplasmin 



A Patient's Guide: Wilson's Disease Test, Procedure, Results, and Diagnosis

Wilson's Disease is a rare disorder, only affecting about 30,000 to 40,000 people worldwide. It's understandable to feel alone when you're facing the possibility of a Wilson's Disease diagnosis and a Wilson's Disease Test.

Wilson's Disease is fatal if not treated, but despite the seriousness of its symptoms, it's very treatable and easy to detect with the proper blood test and a little research, so you know what you're facing.

If you're preparing for a Wilson's Disease test, then keep reading this guide. You'll find out everything you need to know about Wilson's Disease and the testing you need to arrive at a diagnosis.

What Is Wilson's Disease?

Wilson's Disease is a rare genetic disorder where your body is unable to filter out excess copper. Copper is essential and plays a massive role in developing healthy bones, nerves, and collagen.

Normally, you absorb copper from your food, and the excess is removed by your liver in the bile it produces. But when you have Wilson's Disease, you can't eliminate the extra copper, and eventually, the copper levels reach a life-threatening level.

Wilson's Disease causes copper to accumulate in mostly your brain and liver, but it can affect any organ.

The good news is that Wilson's Disease is very treatable when diagnosed early, and most people can live full and active lives.

Complications of Wilson's Disease

If Wilson's Disease remains untreated, it is ultimately fatal. You can also see severe complications such as:

  • Scarring of the liver
  • Liver cirrhosis
  • Liver failure
  • Neurological problems despite treatment
  • Kidney stones
  • Kidney failure

People with untreated Wilson's Disease can also have blood problems such as anemia. Psychological issues like depression, personality changes, and irritability are also common.

Causes of Wilson's Disease

Wilson's Disease is a rare and inherited genetic disorder that is usually diagnosed between the ages of 5 and 35. Wilson's Disease is an autosomal recessive trait, meaning you must inherit one copy of this gene from each of your parents.

If you only receive one abnormal gene from your parent, you won't become sick with Wilson's Disease, but you'll carry the gene and be at risk of passing it on to your children.

Risk Factors for Wilson's Disease

If you have parents or siblings with Wilson's Disease, then you're more likely to have it too. If you have Wilson's Disease in your family, it's a good idea to ask your doctor about genetic testing.

Early awareness and diagnosis of Wilson's Disease dramatically increase your chances of treatment being a success.

Signs and Symptoms of Wilson's Disease

Symptoms and signs of Wilson's Disease tend to vary a lot, depending on the affected organs. Unfortunately, the symptoms of Wilson's Disease mimic many other conditions making it difficult to detect signs alone.

Wilson's Disease presents at birth, but there won't be any symptoms until the copper begins to build up in your organs. Symptoms include:

  • Fatigue
  • Weakness
  • Weight loss
  • Nausea
  • Vomiting
  • Loss of appetite
  • Abdominal pain and bloating
  • Muscle cramps

If you have copper accumulation in your brain, you'll notice symptoms like

  • Migraines
  • Drooling
  • Insomnia
  • Difficulties with your memory
  • Difficulties with speech or vision
  • Clumsiness when using your hands

Once Wilson's Disease advances more, it causes seizures and muscle spasms, and pain with movement.

If your doctor suspects you have Wilson's Disease, they will also check your eyes for Kayser-Fleisher rings and a sunflower cataract.

These rings are golden brown and caused by deposits of copper. Kayser-Fleisher rings show up in over 95% of people with Wilson's Disease.

Eventually, Wilson's Disease also buildups in other organs, causing more symptoms such as:

  • Arthritis
  • Kidney stones
  • Bluish color to your nails
  • Early osteoporosis
  • Low blood pressure
  • Problems with menstrual cycles

Wilson's Disease Diagnosis

Initially, Wilson's Disease is tricky for doctors to diagnose as the symptoms mimic many other disease conditions like hepatitis C, heavy metal poisoning, or other neurological disorders.

If your doctor is concerned you may have Wilson's Disease, they'll first ask you about your medical history and if your family has a history of Wilson's Disease. Next, they will carefully evaluate your symptoms and look for:

  • Skin changes
  • Enlargement of liver
  • Swollen or tender abdomen
  • Swollen ankles
  • Yellow color to your eyes

Then, your doctor will order blood tests, urine tests, and scans to confirm the presence of Wilson's Disease.

Lab Tests for Wilson's Disease

Luckily, you can get Wilson's Disease tests done quickly with Ulta Lab Tests. Ulta Lab Tests offers the blood tests you need to get moving on your diagnosis, treatment, and the rest of your life.

Standard laboratory tests to diagnose and monitor Wilson's Disease include:

Ceruloplasmin is a protein that binds to about 95% of the copper in your blood. Ceruloplasmin levels are usually low with Wilson's Disease. But it's also important to note that people with nervous system symptoms of Wilson's Disease will often have a normal ceruloplasmin level.

Your doctor will also check your blood copper level. People with Wilson's Disease often have high copper levels. Blood copper levels are simple and accurate diagnostic tools for Wilson's Disease.

Liver enzymes are next on the list. The liver enzymes alanine transaminase (ALT) and aspartate transaminase (AST) are often tested to determine if you have any liver damage. Abnormal ALT and AST levels can point towards Wilson's Disease.

Depending on your symptoms, your doctor may want to order a complete liver health profile that can identify Wilson's Disease along with other conditions. Ulta Lab Tests offers comprehensive liver profiles that you can choose from.

You'll also have your red blood cell levels checked to look for any signs of anemia. Your doctor may also order a complete metabolic panel to check your blood sugar levels and how your kidneys are functioning.

Some doctors might also order genetic sequencing to examine the gene for variants and link it to your family members.

Finally, you'll have to do a 24-hour urine copper test. For this test, you'll collect your urine in a container for 24 hours. 24-hour urine copper levels tend to be high in people with Wilson's Disease.

Other Diagnostic Tests

In addition to blood tests, your doctor may order specific imaging tests to evaluate your organs. 

An MRI is ordered to check your brain when you have neurological symptoms from Wilson's Disease. Your doctor may also order CT scans to assess the condition of your liver and kidneys.

Liver biopsies are another standard diagnostic test for Wilson's Disease. A liver biopsy will reveal liver damage as well as high levels of copper.

Treatment for Wilson's Disease

The success of Wilson's Disease treatment depends on how far it's progressed once it's finally detected. Treatment usually happens in stages and lasts a lifetime. If you stop taking your medications, copper levels will build back up again.

The first stage of Wilson's Disease treatment involves Chelation therapy. Chelation therapy uses specific medications to prevent heavy metals like copper, lead, mercury, or arsenic from building up in your body and becoming toxic.

The second stage of Wilson's Disease treatment is maintaining normal copper levels once the first stage is complete. You'll usually have to take zinc with your meals. Zinc helps prevent your body from absorbing copper from the foods you eat.

The third stage of treatment begins once your symptoms begin to improve and your copper levels start to stay normal. The third stage lasts the rest of your life and involves taking zinc, avoiding foods and water with high copper levels, and regularly monitoring your copper levels.

Frequently Asked Questions About Wilson's Disease

Chances are, many other people are asking the same questions you may have. Let's get your research started by taking a few FAQS about Wilson's Disease.

How Wilson's Disease got its name? From the man who discovered it, Alexander Kinnear Wilson, who originally described the disease in the early 1900s.

Can people get Wilson's Disease later in life? There are rare cases of people in their 60s diagnosed with late-onset Wilson's Disease.

Which gene causes Wilson's Disease? The gene that causes Wilson's Disease is called the ATP7B gene, and tests are available to detect any mutations to this gene.

Will a copper test tell me I have Wilson's Disease? A serum copper test is a cheap and easy diagnostic tool. But remember, if your doctor tells you that you have high copper levels in your blood, it doesn't automatically mean you have Wilson's Disease. 

You'll need further lab tests to confirm as elevated copper levels can occur from pregnancy and certain medications.

Get Tested for Wilson's Disease Test With Ulta Lab Tests

What are you waiting for? If you're showing signs of Wilson's Disease, you need to act fast. If left untreated, your liver and kidney will be damaged, and it will only get worse the more prolonged treatment is delayed.

Ulta Lab Tests offers highly accurate and reliable tests so that you can make informed decisions about your health. Here are a few great things to love about Ulta Lab Tests:

  • You'll get secure and confidential results
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  • You'll get affordable pricing
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Order your lab tests for Wilson's Disease today, get blood drawn nearby, and your results will be provided to you securely and confidentially online in 24 to 48 hours for most tests.

Take control with Ulta Lab Tests today!