Wilson's disease is diagnosed through a combination of assessments, with blood tests playing a crucial role.
Diagnostic Methods
Blood Tests
- Ceruloplasmin Levels: A blood test is performed to measure the level of ceruloplasmin, a protein that carries copper in the blood.
- Low levels of ceruloplasmin are often seen in people with Wilson's disease, but not always.
- A healthcare professional will collect a blood sample for lab analysis.
Other Diagnostic Tools
Although not mentioned in the provided reference, it is important to note that additional tools are often required for diagnosis including:
* **Urine tests:** To measure the amount of copper excreted in urine.
* **Liver biopsy:** To assess liver damage and copper levels in the liver tissue.
* **Eye examination:** To check for Kayser-Fleischer rings, a hallmark sign of Wilson's disease.
* **Genetic testing:** To identify the genetic mutations associated with Wilson’s disease.
* **Neurological evaluations:** To assess any neurological symptoms.Importance of Multiple Tests
Diagnosing Wilson's disease can be complex because its symptoms vary greatly and can resemble other conditions. Therefore, multiple tests are usually required to make a definitive diagnosis.
In summary, while low ceruloplasmin levels found in blood tests are a strong indicator of the disease, further investigation is often necessary for an accurate diagnosis.
