Question: How to diagnose Wilson Disease ?
Answer: A health care provider may use several tests and exams to diagnose Wilson disease, including the following:
                
- medical and family history  - physical exam  - blood tests  - urine tests  - liver biopsy  - imaging tests
                
Health care providers typically see the same symptoms of Wilson disease in other conditions, and the symptoms of Wilson disease do not occur together often, making the disease difficult to diagnose.
                
Medical and Family History
                
A health care provider may take a medical and family history to help diagnose Wilson disease.
                
Physical Exam
                
A physical exam may help diagnose Wilson disease. During a physical exam, a health care provider usually
                
- examines a patients body  - uses a stethoscope to listen to sounds related to the abdomen
                
A health care provider will use a special light called a slit lamp to look for Kayser-Fleischer rings in the eyes.
                
Blood Tests
                
A nurse or technician will draw blood samples at a health care providers office or a commercial facility and send the samples to a lab for analysis. A health care provider may
                
- perform liver enzyme or function testsblood tests that may indicate liver abnormalities.  - check copper levels in the blood. Since the copper is deposited into the organs and is not circulating in the blood, most people with Wilson disease have a lower-than-normal level of copper in the blood. In cases of acute liver failure caused by Wilson disease, the level of blood copper is often higher than normal.  - check the level of ceruloplasmina protein that carries copper in the bloodstream. Most people with Wilson disease have a lower-than-normal ceruloplasmin level.  - conduct genetic testing. A health care provider may recommend genetic testing in cases of a known family history of Wilson disease.
                
Urine Tests
                
24-hour urine collection. A patient will collect urine at home in a special container provided by a health care providers office or a commercial facility. A health care provider sends the sample to a lab for analysis. A 24-hour urine collection will show increased copper in the urine in most patients who have symptoms due to Wilson disease.
                
Liver Biopsy
                
A liver biopsy is a procedure that involves taking a small piece of liver tissue for examination with a microscope for signs of damage or disease. The health care provider may ask the patient to stop taking certain medications temporarily before the liver biopsy. He or she may also ask the patient to fasteat or drink nothingfor 8 hours before the procedure.
                
During the procedure, the patient lies on a table, right hand resting above the head. The health care provider applies a local anesthetic to the area where he or she will insert the biopsy needle. If needed, a health care provider will also give sedatives and pain medication. The health care provider uses the needle to take a small piece of liver tissue. He or she may use ultrasound, computerized tomography scans, or other imaging techniques to guide the needle. After the biopsy, the patient must lie on the right side for up to 2 hours and is monitored an additional 2 to 4 hours before being sent home.
                
A pathologista doctor who specializes in diagnosing diseasesexamines the liver tissue in a lab. The test can show cirrhosis of the liver. Sometimes the liver biopsy will show copper buildup in the liver cells; however, the results can vary because the copper does not always deposit evenly into the liver. Therefore, health care providers often find it more useful to analyze a piece of liver tissue for copper content. Most patients with Wilson disease have high levels of copper in the liver tissue when compared with carriers or with people who do not have Wilson disease.
                
More information is provided in the NIDDK health topic, Liver Biopsy.
                
Imaging Tests
                
A health care provider may order imaging tests to evaluate brain abnormalities in patients who have nervous system symptoms often seen with Wilson disease, or in patients diagnosed with Wilson disease. Health care providers do not use brain imaging tests to diagnose Wilson disease, though certain findings may suggest the patient has the disease.
                
Magnetic resonance imaging (MRI). An MRI is a test that takes pictures of the bodys internal organs and soft tissues without using x rays. A specially trained technician performs the procedure in an outpatient center or a hospital, and a radiologista doctor who specializes in medical imaginginterprets the images. The patient does not need anesthesia, though people with a fear of confined spaces may receive light sedation, taken by mouth. An MRI may include the injection of a special dye, called contrast medium. With most MRI machines, the patient will lie on a table that slides into a tunnel-shaped device that may be open ended or closed at one end. Some machines allow the patient to lie in a more open space. The technician will take a sequence of images from different angles to create a detailed picture of the brain. During sequencing, the patient will hear loud mechanical knocking and humming noises. MRI can show if other diseases or conditions are causing the patients neurological symptoms.
                
Computerized tomography (CT) scan. A CT scan uses a combination of x rays and computer technology to create images. For a CT scan, a health care provider may give the patient a solution to drink and an injection of contrast medium. CT scans require the patient to lie on a table that slides into a tunnel-shaped device where a technician takes the x rays. An x-ray technician performs the procedure in an outpatient center or a hospital. A radiologist interprets the images. The patient does not need anesthesia. A CT scan can show if other diseases or conditions are causing the patients neurological symptoms.

Topic: Wilson Disease
Source: NIDDK