Wilson's Disease in MRCP

Wilson’s Disease in MRCP

Actually, after practicing medicine for 6 years, I have seen only a case of Wilson’s disease. I have a patient with liver cirrhosis and after intensive investigations ( which include autoimmune screening, viral hepatitis screening, etc etc), no cause was found.

No doctor actually could find out the underlying cause of her liver cirrhosis and attributed that to cryptogenic liver cirrhosis. Later she developed tremor and was diagnosed to have Wilson’s disease after 5 years under our hospital follow up.

Anyway, I think it is a difficult disease to diagnose and I hope to discuss more about this illness today.

First thing to remember in your MRCP, Wilson’s disease is an autosomal recessive disorder involving copper metabolism. In normal subjects, ingested copper mostly will be absorbed and transported to the liver. In the liver, copper is incorporated into an alpha-2-globulin to form caeruloplasmin. Caeruloplasmin is the transport protein for copper and necessary for biliary excretion.

For patients with Wilson’s disease, there is defective intrahepatic caeruloplasmin formation. This leads to increased body and tissue copper level due to biliary excretion failure. However, urinary copper excretion is increased to compensate for defective biliary excretion.

OK, that’s the theory part of Wilson’s disease, you can think of copper as iron, when there is overload of copper in the body, it will be deposited in various organs in the body. However, remember five major organs/tissues that are frequently asked in your MRCP,

1) Brain- this can cause Parkinsonism and always remember that Wilson’s disease is one the most important differentials if you have a young patient with Parkisnonism.
2) Eye- Remember, in MRCP, they like to ask about Kayser-Fleischer rings ( although I never seen one in my life!)


3) Liver- this can lead to hepatitis, liver cirrhosis and even hepatocelular carcinoma.
4) Joints- patients can present with polyarthritis.

However, remember that you may not understand this but just remember the fact that patient with Wilson disease can have haemolysis anaemia and renal tubular acidosis and they might have pigment gallstone.

Diagnosis can only be confirmed with liver biopsy ( high copper level), however, you can detect low caerulopalsmin and high 24 hour urinary copper level.

Treatment is easy- give penicillamine or trientine for life.