Question

A patient presents with the finding as shown, What is the best investigation for Wilson's disease?

• A. Urine Copper
• B. Hepatic copper
• C. S. Ceruloplasmin
• D. MRI Brain

Hint:

Wilson's disease diagnosis can be confirmed with hepatic copper content measurement, alongside other investigations like serum ceruloplasmin levels.

Answer 1

The Correct Option is B

Wilson's disease is a genetic disorder in which excess copper builds up in the body. This can lead to serious health problems if not diagnosed and treated early. To diagnose Wilson's disease, various tests are employed to assess copper accumulation and metabolism in the body.

Given the options provided for investigation in Wilson's disease, we need to determine the most reliable test.

Urine Copper: Measuring 24-hour urinary copper excretion can be useful, but it can sometimes give false positives or negatives. It is usually increased in Wilson's disease but is not the most definitive test.

Hepatic Copper: This test involves a liver biopsy to directly measure the amount of copper in the liver. It is considered the gold standard for diagnosing Wilson's disease because it provides a precise measurement of the copper content in the liver, which is the primary site of copper deposition in Wilson's disease.

S. Ceruloplasmin: This is a blood test measuring ceruloplasmin, a protein that binds copper in the bloodstream. Ceruloplasmin levels are usually low in Wilson's disease patients, but this can be affected by other factors and conditions.

MRI Brain: An MRI can detect changes in the brain often seen in advanced Wilson's disease, but it is not a primary diagnostic tool for copper accumulation.

The most direct and definitive investigation for Wilson's disease, particularly when confirming the diagnosis, is measuring hepatic copper through a liver biopsy. This test provides an accurate assessment of copper load in the liver.