To measure the amount of ceruloplasmin in your blood; to help diagnose Wilson disease; sometimes to help identify conditions associated with copper deficiencies
Ceruloplasmin
When you have jaundice, fatigue, abdominal pain, behavioral changes, tremors, or other symptoms that a healthcare practitioner thinks may be due to Wilson disease or, rarely, to copper deficiency; periodically when monitoring is recommended
A blood sample drawn from a vein
None
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How is the test used?
Ceruloplasmin testing is used primarily, along with blood and/or urine copper tests, to help diagnose Wilson disease, a rare inherited disorder associated with excess storage of copper in the eyes, liver, brain, and other organs, and with decreased levels of ceruloplasmin.
Rarely, a ceruloplasmin test may be ordered with a copper test to help diagnose abnormal copper metabolism, copper deficiencies, or the rare inherited disorder Menkes kinky hair syndrome (see below).
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When is it ordered?
A ceruloplasmin test may be ordered alone or along with blood and 24-hour urine copper tests when you have signs and symptoms that a healthcare practitioner suspects may be due to Wilson disease, such as:
- Anemia
- Nausea, abdominal pain
- Jaundice
- Fatigue
- Behavioral changes
- Tremors
- Difficulty walking
- Persistent involuntary muscle contractions that cause repetitive or twisting motions (dystonia)
- Diarrhea and vomiting
- Trouble swallowing or speaking
- Dark brown rings around the iris of the eyes (Kayser-Fleischer rings)
Rarely, ceruloplasmin may also be ordered along with copper tests when a healthcare practitioner suspects that you have a copper deficiency. Symptoms of a copper deficiency include pale skin, osteoporosis, fatigue, and tingling in the hands and feet. Infants may be tested if they have signs of Menkes kinky hair syndrome, which include brittle, sparse or tangled hair, feeding problems, failure to grow, seizures, developmental delays, or low muscle tone.
Ceruloplasmin may be ordered periodically to monitor copper excess or deficiency and periodically to evaluate the effectiveness of treatment.
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What does the test result mean?
Ceruloplasmin levels are not diagnostic of a specific condition and are usually evaluated along with copper tests.
Test results may include:
Test Wilson Disease Copper Toxicity Menkes Disease (Kinky Hair Syndrome) Copper Deficiency Copper, blood Low but may be normal High Low Low Copper, serum free High High Low Low Ceruloplasmin Low but may be normal High Low Low Copper, urine Very high High Low Low Copper, liver/hepatic* Positive but, depending on the site sampled, may be negative High or normal Low Low *Excess copper in the liver is often unevenly distributed and may not be detected in a sample.
- Decreased ceruloplasmin and blood copper concentrations and increased urine copper levels may indicate Wilson disease.
- Some people with Wilson disease who have neurological symptoms will have normal ceruloplasmin levels, as will many people with symptoms of liver damage, especially if they are acutely ill.
- If ceruloplasmin and urine and/or blood copper concentrations are low, then the person tested may have a copper deficiency.
- Anything that interferes with the supply of copper or with the body's ability to metabolize copper has the potential to affect blood ceruloplasmin and copper concentrations.
- Higher-than-normal ceruloplasmin levels could be a sign of a serious infection, heart disease, rheumatoid arthritis, leukemia or Hodgkin lymphoma.
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Can I have the ceruloplasmin test done in my healthcare provider's office?
No. It is a specialized test that is not offered by every laboratory. Your blood sample may need to be sent to a reference laboratory.
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Do I need to have a liver biopsy?
If Wilson disease is strongly suspected based upon blood, urine, and imaging test results, a liver biopsy may be performed to evaluate how much copper is in your liver and the extent of liver damage.
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What is Menkes kinky hair syndrome?
Menkes kinky hair syndrome, also called copper transport disease, is a rare inherited disorder that causes a deficiency in copper. The syndrome is caused by mutations in the ATP7A gene located on the X chromosome. It is passed from parent to child in an X-linked recessive manner. This means that girls must inherit two copies of the mutated gene in order to be affected. Because boys only have one X chromosome, they can be affected if the mutation is present on the one X chromosome, making the condition much more common in males.
The mutation leads to uneven distribution of copper in the body. It may build up in tissues of the intestines and kidneys, for example, but may be deficient in areas such as the brain. Symptoms of the syndrome typically develop in infancy and many children die by age 3. Signs and symptoms include sparse, kinky hair, failure to grow at an expected rate and developmental delay, nervous system deterioration, weak muscle tone, and seizures. The incidence of this syndrome is about 1 in 100,000 infants.
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Is there anything else I should know?
Ceruloplasmin may be increased in a variety of circumstances where the test is not used as a clinical tool. However, these conditions can affect interpretation of the test and the ability to recognize Wilson disease or copper deficiency. These may include the following:
- Ceruloplasmin is an acute phase reactant. It is frequently elevated with inflammation, severe infection, tissue damage, and may be increased with some cancers.
- It may be increased during pregnancy and with the use of estrogen, oral contraceptives, and medications such as carbamazepine, phenobarbital, and valproic acid.
Falsely low ceruloplasmin levels could occur in any condition that causes protein deficiency, such as nephrotic syndrome, malabsorption, loss of protein from the digestive tract (protein-losing enteropathy), and malnutrition.