Wilson's disease

Wilson's disease is an inherited disorder that causes too much copper to accumulate in your liver, brain and other vital organs. Another term for Wilson's disease is hepatolenticular degeneration.
Copper plays a key role in the development of healthy nerves, bones, collagen and the skin pigment melanin. Normally, copper is absorbed from your food, and any excess is excreted through bile.
But in people with Wilson's disease, copper isn't eliminated properly and instead accumulates, possibly to a life-threatening level. Left untreated, Wilson's disease is fatal. When diagnosed early, Wilson's disease is treatable.

* Causes

Wilson's disease occurs when a genetic mutation leads to an accumulation of copper in your body. Wilson's disease is inherited as an autosomal recessive trait.
The mutation that causes Wilson's disease occurs in a gene called ATP7B. When a mutation occurs on this gene, it leads to problems with a protein that's responsible for moving excess copper out of your liver.
In people with Wilson's disease, the extra copper doesn't leave your body. Instead, copper builds up in the liver, where it can cause serious and sometimes irreversible damage. In time, excess copper leaves the liver and begins accumulating in and harming other organs, especially the brain, eyes and kidneys.

* Signs and symptoms of Wilson's disease

■ Dense Kayser-Fleischer ring in asymptomatic Wilson's disease
■ Clumsiness
■ Depression
■ Difficulty speaking
■ Difficulty swallowing
■ Difficulty walking
■ Drooling
■ Easy bruising
■ Fatigue
■ Involuntary shaking
■ Joint pain
■ Loss of appetite
■ Nausea
■ Skin rash
■ Swelling of arms and legs
■ Yellowing of the skin and eyes (jaundice)

* Complications

■ Scarring of the liver
■ Liver failure
■ Liver cancer
■ Persistent neurological problems
■ Kidney problems

* Treatments and drugs

Recommend medications to reduce the amount of copper in your body. Once that is achieved, treatment focuses on preventing copper from building up again. When liver damage is severe, a liver transplant may be necessary.
chelating agents prompt your organs to release copper into your bloodstream. The copper is then filtered by your kidneys and released into your urine.
Penicillamine (Cuprimine, Depen). ,Trientine (Syprine). etc can be used as chelating agents.
For people with severe liver damage, a liver transplant may be necessary