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Wilson's Disease


Andy Do

on 4 December 2012

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Transcript of Wilson's Disease

What Can Your Doctor Do? What are the Symptoms? Team 0 + - = 9 8 7 1 2 3 4 5 6 c Treatment
Treatment aims to increase copper excretion to reduce the amount of the metal in the body.

- Penicillamine (eg Distamine) is available in tablet form and it works by binding copper to it so the metal can then be eliminated from the body through urination. But the drug has serious side effects including blood and kidney abnormalities. - Neurological symptoms may also worsen.
- If penicillamine cannot be used trientine is an alternative as side effects are less common.
- Zinc taken by mouth reduces copper absorption in the intestine.
- Ammonium tetrathiomolybdate for neurological disease or for rapid control of copper levels has been suggested.
- Ultimately liver transplantation may be required. Work Cited

"Wilson's Disease." Netdoctor. N.p., n.d. Web. 16 Nov. 2012. <http://www.netdoctor.co.uk/diseases/facts/wilsonsdisease.htm>.

"Wilson's Disease." WebMD. WebMD, n.d. Web. 16 Nov. 2012. <http://www.webmd.com/digestive-disorders/wilsons-disease-11044>.

"Tissue Banking." For Wilson Disease. N.p., n.d. Web. 03 Dec. 2012. <http://www.wilsonsdisease.org/wilson-disease-research/wilsondisease-tissuebanking.php>. What is Wilson's Disease? Wilson's disease is caused by a build up of excess copper in the body.
A small amount of copper is needed in the diet for health to repair cells. But excess copper is toxic and can damage the organs.

Wilson’s disease is also sometimes called hepaticolenticular degeneration What causes Wilson's Disease? It is mainly the liver that controls levels of copper in the body by excreting (getting rid of) excess copper mostly in the bile.

In Wilson's disease this process fails, causing copper to build up in the body. This mainly damages the liver but can also affect other organs, especially the brain. The cause is believed to be a mutation in the ATPL7B gene on chromosome 13. How Does It Develop? The first symptoms of Wilson's disease generally appear between the ages of 6 and 45 years.

Excess copper can cause inflammation in the liver (hepatitis) and scarring (cirrhosis), and brain damage.
The time this takes varies but copper takes at least five to six years to reach damaging levels in the liver and often 15 to 20 years or more to cause neurological damage.

If untreated, Wilson's disease is fatal. Who Is At Risk? Wilson's disease is rare, affecting only 1 in 30,000 of the population. It affects men and women in all racial groups.

The disease is inherited. An abnormality or mutation in the gene called ATP7B is thought to be behind Wilson's disease. To develop the disease two defective ATP7B genes must be inherited from both parents.

If you have one defective gene you could pass it on to your children. Hepatitis (liver inflammation).
Cirrhosis of the liver or scarring.
Tiredness and loss of appetite.
Abdominal pain.
Swelling of the ankles or abdomen.
Enlargement of the liver or spleen.
Bleeding from the gut or coma in severe cases. How is it Diagnosed? Blood analysis for copper and the copper-binding protein caeruloplasmin.
Urine tests to measure urinary copper loss.
A liver biopsy to measure copper content.
A brain scan in cases of neurological disease.
An eye examination to check for copper in the cornea of the eye - shown as a brownish discolouration and known as Kayser-Fleischer rings.
A genetic test to identify DNA mutations associated with Wilson's disease. Wilson's Disease GPs are unlikely to be familiar with Wilson's disease, so hospital specialists in liver disease, neurology or psychiatry are better placed to make the difficult diagnosis.
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