Wilson’s disease is a disorder in which you have a higher than normal amount of copper in your body. An overload of copper is poisonous (toxic) and can damage your liver, brain and other organs.
The overload is caused by a genetic defect that prevents your liver from being able to metabolise and remove unnecessary amounts of copper from the body as it normally does.
If Wilson’s disease is diagnosed early enough it can be effectively treated. When it is not treated, the disease is always fatal.
The disease is estimated to affect one person in 30,000 worldwide and occurs with about the same frequency in both men and women. Named after the scientist Samuel Kinnear Wilson who identified it in 1912, Wilson’s disease is also known as ‘hepatolenticular degeneration’.
Copper taken in from your diet is absorbed by the small intestine. From here it is bound to a protein that circulates in your blood (albumin) and transported to your liver to be stored. Normally, any copper your body doesn’t use is carried away by bile – a fluid produced by the liver to aid digestion – and excreted from the body. Biliary excretion is the only means of removing copper. When this ‘pathway’ is not working properly an accumulation (build-up) of copper in the body will follow.
How will Wilson’s disease affect me?
This accumulation of copper will lead to serious and possibly irreversible damage to your liver if not treated. When the copper storage capacity of your liver cells (hepatocytes) is exhausted, the copper ‘spills’ into the bloodstream and deposits in other parts of your body, primarily the brain but also the eyes, kidneys and joints.
The liver is the fi rst organ affected by copper accumulation and for around half of the people who have the disease it is the only affected organ. The toxic effect on the liver cells can cause a condition called hepatitis in which your liver becomes infl amed and swollen. With intense, ongoing infl ammation a build-up of scar tissue may form in your liver. This process is known as fi brosis, and can lead to cirrhosis.
Cirrhosis is usually the result of long-term, continuous damage to the liver. This is where irregular bumps, known as nodules, replace the smooth liver tissue and the liver becomes harder. The effect of this, together with continued scarring from fi brosis, means that the liver will run out of healthy cells to support its normal functions. This can lead to complete liver failure. There are a number of ways cirrhosis is caused and Wilson’s disease is one of the rarest.
The effects of the build-up of copper on the brain and spinal cord (central nervous system) can lead to mental confusion and physical symptoms such as tremors and clumsiness.
These usually begin in your teens or early twenties, but may be seen much earlier or much later in life. The disease can also interfere with the function of your kidneys and may lead to weak, brittle bones (osteoporosis). Women may experience menstrual irregularities, fertility problems and miscarriage. |
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