Wilson's Disease

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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Decreased levels of ceruloplasmin are found in Wilson''s Disease, fulminant liver failure, intestinal malabsorption, renal failure resulting in proteinuria, chronic active hepatitis and malnutrition. Elevated levels are found in primary biliary cirrhosis, pregnancy (first trimester), oral contraceptive use and in acute inflammatory conditions since ceruloplasmin is an acute phase reactant

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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. Copper concentrations increase in acute phase reactions and during the third trimester of pregnancy. Copper concentrations are decreased with nephrosis, malabsorption, and malnutrition. Copper concentrations are also useful to monitor patients, especially preterm newborns, on nutritional supplementation. Results of copper are often interpreted together with ceruloplasmin.

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

Clinical Significance

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. Copper concentrations increase in acute phase reactions. Copper concentrations are decreased with nephrosis, malabsorption, and malnutrition. Copper concentrations are also useful to monitor patients, especially preterm newborns, on nutritional supplementation. Results of copper are often interpreted together with ceruloplasmin.

Troponin I is part of a protein complex which regulates the contraction of striated muscle. In acute coronary syndromes (ACS), it can be detected in blood at 4-8 hours following the onset of chest pain, reaches a peak concentration at 12-16 hours, and remains elevated for 5-9 days. Troponin I has been used as a reliable marker in the diagnosis of perioperative myocardial infarction in patients undergoing cardiac surgery.

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
  • You don't need health insurance
  • You don't need a physician's referral
  • You'll get affordable pricing
  • We offer a 100% satisfaction guarantee

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!

Wilson’s disease is caused by abnormal copper metabolism. It leads to excessive storage of copper in the body, especially in the brain and liver area. It is an inherited genetic disorder. Copper is an essential mineral required by the body, and the primary source of copper is diet. Enzymes in the body use it for various functions. These enzymes play an important role in various things, including iron metabolism regulation, production of energy at cellular level, connective tissue generation, and melanin production as well as in the functioning of the brain and nervous system.

Intestines absorb copper where a carrier protein binds with it and transports it to the liver. Some of the copper is stored in the liver, and the rest binds to a protein known as apoceruloplasmin, which is used to produce an enzyme called ceruloplasmin. Almost 95% of the copper found in the blood is bound to ceruloplasmin, whereas the remaining is bound to various other proteins, including albumin. Copper in a free state is present only in a very small amount in the blood. Typically, any excess copper is removed from the body as it is excreted into the bile and goes out through the stool. Kidneys are also responsible for removing some of the copper through urine.

Wilson’s disease is described as an autosomal recessive disorder. Simply put, it means that this disorder is caused due to two altered gene copies where one gene each is inherited from each parent. An individual that carries only one copy becomes a carrier, and they can pass on this mutation onto the children but do not show any symptoms of this disease.

In Wilson’s disease, the gene mutation is at the ATP7B gene. The human body needs this gene for binding copper to develop ceruloplasmin molecule and for excretion of excessive copper into the bile. When these gene copies are altered (homozygous), it causes excessive copper in the lover, which leads to a lower level of ceruloplasmin in the bloodstream. Once the copper storage reaches toxic levels, it leads to tissue and cell damage in the liver. It also gets in the blood and leads to the formation of deposits in various other organs, including the kidneys and the brain. Concentration levels of free copper keep increasing in the blood, and that may lead to oxidative damage to cells. Individuals affected by this disease typically display symptoms and signs associated with neurological damage, liver dysfunction, or both. The severity of this disease partly depends on the presence of gene mutations but also varies from one person to another.

It is estimated that in the United States, around 1 in 30,000 people suffer from Wilson’s disease, whereas the carriers are estimated to be as high as 1 in 90. ATP7B gene is currently known to have 40 normal variants, and more than 260 mutations of this gene are associated with the Wilson’s disease. While the number of commonly occurring, mutations is restricted to a few, but the prevalence of these mutations varies with ethnicity all around the world. People suffering from Wilson’s disease might carry two copies of one genetic mutation or two completely different genetic mutations.

Symptoms and Signs

An individual suffering from Wilson’s disease with liver involvement starts to develop symptoms of the disease during their early childhood. On the other hand, people with brain involvement usually start developing psychiatric and neurologic symptoms in their early 20s or teens. However, the age range for both these can be as low as three years and more than 50 years.

Copper deposits in the liver might cause chronic, acute, and progressive hepatitis and cirrhosis. The symptoms and signs of these conditions include:

Abdominal pain, fatigue, nausea, jaundice causing yellowing of the whites of the eyes and the skin, and abdomen fluid accumulation known as ascites.

Individuals with brain involvement display a wide range of symptoms that might include:

  • Tremors
  • Stiffening of face muscles
  • Abnormal eye movements
  • Persistent muscle contractions causing repetitive movements and limb twitching (dystonia)
  • Difficulty in swallowing
  • Speaking and walking
  • Altered gait

People suffering from it might also experience certain behavioral changes, including obsessive behavior, shortened attention span, aggression, impulsiveness, paranoia, and depression.

Around 50% of individuals with liver involvement and around 90% of people with brain involvement typically also have Kayser-Fleischer rings. It is the name given to the copper deposit rings around the cornea in the eye, and these can be detected with an eye exam known as slit-lamp examination. Some of the people suffering from Wilson’s disease might also experience joint pain, easy bruising, anemia as well as kidney dysfunction.

If not treated, this disease becomes progressively worse, and it is eventually fatal. People suffering from this disease can live a relatively normal life when it is detected and treated at the early stages. The neurologic and liver damage caused by excessive copper deposits prior to treatment is often permanent, but it might improve with treatment.

Laboratory Testing

Tests are done to diagnose the existence of Wilson’s disease and determine its severity. It is also used to distinguish individuals who are carriers from those who have the disease, and it helps in ruling out any other cause of neurological and liver dysfunction. Testing also helps in monitoring the effectiveness of treatment. Testing can also be used for the identification of family members who are carriers or pre-symptomatic. Sometimes, it is also used for prenatal evaluation.

Here is a list of the laboratory tests that are used for checking Wilson’s disease. It is recommended to repeat the tests in case of any abnormal results. Test results of carriers might overlap with test results of individuals with Wilson’s disease who are currently pre-symptomatic. In addition to Wilson’s disease, excessive copper storage and increased levels of copper in the blood are also caused by some other diseases. It might be difficult to distinguish acute Wilson’s disease from other types of hepatitis.

Laboratory testing may include:

Ceruloplasmin – This test is done for the diagnosis of Wilson’s disease. Wilson’s disease sufferers usually have lower ceruloplasmin levels, but around 5% of people with neurological symptoms display completely normal ceruloplasmin levels, whereas around 40% of individuals with liver involvement also display normal ceruloplasmin levels.

Total Serum Copper Test – This test is also helpful for diagnosis. Lower than normal levels of serum copper is an indication of the presence of this disease.

Free Serum Copper – This refers to copper that is not bound to ceruloplasmin. It is useful for diagnosis as well as continuous monitoring. Individuals with this disease usually have higher levels of free copper.

24 Hour Urine Copper – This test is used for diagnosis as well as for monitoring. Individuals with the disease have higher levels of urine copper.

Hepatic Copper – This test is used for diagnosis. In this test, a liver tissue biopsy is done. Copper deposits in the liver may not be evenly distributed.

Genetic Testing – As the name suggests, it’s a special test that is not available widely, and only a limited number of research and reference laboratories perform this test. It is useful for the diagnosis of Wilson’s disease and for the identification of carriers and mutations. This test can also be used for establishing disease severity to a certain level as per the presence of certain mutations, but testing cannot be used for the determination of complications, organ involvement, or severity of the disease for an individual. The severity of the disease varies significantly, even between various family members who carry the same mutations.

ATP7B Gene – In this case, panels of the most common mutations in an ethnic population or in a region may be performed. In case a person with Wilson’s disease carries certain mutations, other family members can also be tested for those mutations.

Gene Sequencing – It can be used for checking the entire gene for various mutations, and it is typically the most thorough testing.

Linkage Analysis – In this test, blood samples are required from siblings, parents, as well as the affected family member. In this case, genetic information close to the ATP7B gene is compared.

Some other tests might also be performed for evaluation of blood cell status as well as organ functionality, and some of these tests may include liver panel, complete blood count, and comprehensive metabolic panel.