How to Diagnose Wilson's Disease

A serious genetic disorder with devastating symptoms, Wilson's Disease causes excess copper to accumulate in the liver, brain and eyes. The disease is inherited from both parents and is present at birth. However, it may not be diagnosed until adolescence or adulthood, when a person begins to exhibit symptoms. It is often discovered due to the development of liver abnormalities and psychiatric or neurological problems. Read on to learn how to diagnose Wilson's Disease.

Instructions

Difficulty: Moderately Challenging

1. Rule out other disorders. The symptoms of Wilson's Disease overlap with other genetic disorders that cause neurological and hepatic (liver) symptoms. Your doctor will need to screen you thoroughly to properly diagnose the cause of your symptoms.
2. Have your eyes tested. An ophthalmologist can use a testing device to detect abnormal deposits of copper in the eye, forming a rusty ring around part or all of the cornea. The presence of this ring almost always indicates Wilson's Disease.
3. Have a blood test to analyze your level of ceruloplasmin, a protein that contains six copper atoms per molecule. Low ceruloplasmin levels point to copper toxicity, but this test alone is not enough to diagnose Wilson's Disease. Some people have low ceruloplasmin levels, but do not have Wilson's Disease.
4. Give a blood sample to measure both the total concentration of copper in your blood and the level of copper that is not bound to ceruloplasmin.
5. Assess the copper concentration in your urine by collecting your urine for 24 hours. The laboratory will provide a sterile container and measure the amount of copper you excrete in this period. This information can help your doctor to rule out or diagnose Wilson's Disease.
6. Discuss a liver biopsy with your doctor. Usually, simple blood, urine and eye tests are sufficient to diagnose Wilson's Disease. In some cases, liver biopsies and other diagnostic tests are needed.
7. Determine whether a bone-density test is necessary to diagnose Wilson's Disease. The disorder can cause bone weakening or softening.

Tips & Warnings

• Seek treatment to live with Wilson's Disease. Medication and copper-free diets allow people diagnosed with Wilson's Disease to manage their symptoms and live normally.
• As Wilson's Disease is rare, the diagnosis can be missed or incorrectly labeled as hepatitis. Don't be afraid to seek a second opinion if you think your diagnosis may be incorrect.
• Wilson's Disease ends in death if not treated. See a doctor to diagnose any changes you observe in your motor coordination, and pay attention to mood changes that seem abrupt or severe.