WDSG-UK Pamphlet (2011)

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What you should know about Wilson's Disease

What is Wilson's Disease?

Wilson's Disease is a rare genetic disorder that is fatal unless detected and treated before serious illness develops from copper poisoning. Wilson's Disease affects about one in thirty thousand people worldwide.

The genetic defect causes excessive copper accumulation. Small amounts of copper are essential for the body to maintain its lifefunctions. Copper is present in most foods, appearing in various quantities and this depends on the food type, location where it is grown and how the food is processed. Most people get much more dietary copper than they need and healthy people excrete the copper they don't need. However, Wilson's Disease patients cannot excrete copper.

What happens to copper in Wilson's Disease?

Copper begins to accumulate immediately after birth and gradually builds up to toxic levels within the body. Excess copper attacks the liver and brain resulting in liver disease, psychiatric, or neurological symptoms or any combination of these.

What are the symptoms and signs of Wilson's Disease?

The symptoms usually appear during adolescence, but symptoms have presented as early a s 5 years and as late as 50 years. Patients may present with a wide spectrum of symptoms.

Patients may have jaundice, abdominal swelling, vomiting of blood (a telltale sign of oesophageal varices caused by liver damage) and abdominal pain. They may have tremors or chorea (coordination difficulties such as with handwriting), gait disturbances, balance disorders, stiffness or rigidity (dystonia), difficulty walking, talking (slurring) and swallowing, and may drool. They may develop all degrees of mental illness including homicidal or suicidal behaviour, depression and aggression. Women may have menstrual irregularities, absent periods, infertility or multiple miscarriages. No matter how the disease begins, it is always fatal, if it is not correctly diagnosed and treated.

Tell me more about the liver in Wilson's Disease?

The first part of the body that copper affects is the liver. In about half of WD patients, the liver is the only affected organ. The physical changes in the liver are only visible under a microscope. When hepatitis develops, patients are often thought to have infectious hepatitis or infectious mononucleosis when they actually have Wilson's Disease hepatitis. Any unexplained abnormal liver test should trigger thought about Wilson's Disease.

Tell me more about the brain in Wilson's Disease?

The excess copper also accumulates in the central nervous system. From a neurology perspective, motor abnormalities which are not clearly and unequivocally explained by a particular diagnosis should prompt the neurologist to consider Wilson's Disease. Neurological abnormalities are almost always motor and not sensory disturbances. Kayser Fleischer Rings (or Sunflower Cataracts) in the eyes are invariably present when there are neurological symptoms in the patient and these are normally a tell-tale sign of Wilson's Disease.

How is Wilson's Disease Diagnosed ?

Diagnosis is made by relatively simple tests which almost always make the diagnosis. The tests can diagnose the disease in both symptomatic patients and people who show no signs of the disease. It is very important to diagnose Wilson's Disease as early as possible, since severe liver damage can occur before there are symptoms of the disease. Individuals with Wilson's Disease may falsely appear in excellent health. Blood ceruloplasmin, urine copper, eye test for Kayser Fleischer rings, and liver biopsies are used to make the diagnosis.