Diagnosis of Wilson’s disease is based on abnormal liver tests, signs of psychiatric illness and evidence of Kayser-Fleischer rings.
In terms of psychiatric or neurological signs of Wilson’s disease, unexplained symptoms such as tremors and clumsiness together with a dramatic personality change will raise suspicion of the disorder.
If Wilson’s disease is suspected, an ophthalmologist (a doctor who specialises in the diagnosis and treatment of eye disorders) will carry out a slit-lamp eye examination to confi rm the presence of Kayser- Fleischer rings. The slit-lamp is a type of microscope with a high-intensity light beam attached to provide a highly magnifi ed view of your cornea.
Liver function tests (LFTs)
Liver function tests are used to indicate whether your liver is infl amed (hepatitis), damaged or not working properly. They measure levels of certain enzyme and protein substances in your blood that may alter when liver damage is present.
Doctors will measure levels of alanine aminotransferase (ALT) and aspartate aminotransferase (AST). These are liver enzymes which indicate the degree as well as the possible causes of infl ammation. They leak into the blood stream when the liver cells are damaged. Levels are usually high in hepatitis; doctors will be looking for signs of acute or chronic hepatitis, or cirrhosis.
Further blood tests
A simple blood test will be carried out to measure copper in your blood. There may also be a urine test, measuring copper excretion passed into urine over 24 hours. An increase of copper is usually found in urine, but not always.
A caeruloplasmin concentration test is performed to measure levels of another copper-carrying protein, caeruloplasmin. Levels of this protein in the blood are likely to be lower than normal.
Liver biopsy
A liver biopsy may be used to measure the amount of copper (hepatic copper concentration) in your liver. All people with Wilson’s disease will have increased amounts.
During a liver biopsy a tiny piece of the liver is taken for study. To do this, a fi ne hollow needle is passed through the skin into the liver and a small sample of tissue is withdrawn. As well as measuring liver damage, liver biopsy enables chemical analysis of copper concentration from traces found in the tissue sample.
Imaging tests
Imaging equipment such as magnetic resonant imagery (MRI) or computerised tomography (CT) may be used to examine a specific area of the brain known as the basal ganglia, which is responsible for starting and controlling your body’s movements. The same equipment may also be used to scan your abdomen.
With MRI a type of tube scanner is used to provide a detailed view of your internal organs. It creates powerful magnetic fi elds by releasing radio frequency energy to act on water molecules in your body. A type of radio signal is returned and picked up by the MRI equipment. This is relayed to a computer that can generate very detailed crosssectioned images (or ‘slices’) of a body area.
A CT scan examines the density (thickness) of your body tissues. It obtains pictures, called tomograms, from different angles around your body using computer processing and can also show slices of your tissue and organs.