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Diagnosis of Wilson disease
Symptoms and signs can make doctors suspect the disease, but they aren’t sure this is Wilson or not.
So, let’s see the diagnosis that confirms Wilson disease:
- Family history: doctors will ask you if one of your family has the same symptoms or not. They also will ask you about your medical history if you have had the same symptoms before.
- Physical examination: your doctor will examine the signs of liver inflammation or failure. They may find jaundice, ascites, edema, and enlarged liver and spleen (hepatosplenomegaly).
- Eye exam: your doctor will examine your eyes by slit-lamp using a special light for Kayser-Fleischer rings.
Doctors also use some tests to confirm the diagnosis like blood tests, 24h urine collection, liver biopsy, and genetic tests:
- Blood tests: your doctor will ask you to take a blood sample for one or more tests to detect levels of:
- The blood copper level: Patients with this disease have a low blood copper level due to the copper deposition in the organs.
- Ceruloplasmin level: It is a protein that carries copper in the bloodstream. Its level is low due to the low blood level of copper.
- Liver enzymes are at abnormal levels due to liver damage.
- RBCs: to detect anemia
- 24-hours urine collection: your doctor will ask you to collect your urine for 24 hours, then send the urine to the lab to measure the level of free copper in the urine. In patients with Wilson disease, the free copper in urine is more than the healthy level.
- Liver biopsy: Negative results of blood and urine may make your doctor order a liver biopsy for histopathological examination.
- Genetic tests: We do genetic analysis to detect mutation of the ATP7P gene. If we found a genetic mutation, we should do a family screening.
- Brain imagining: In patients with neuropsychiatric symptoms, doctors use brain imagining techniques to confirm the diagnosis. These techniques include MRI (magnetic resonance imaging), CT (computed tomography), and X-Rays.
