Wilson disease is a rare autosomal recessive inherited disorder of copper metabolism that is characterized by excessive deposition of copper in the liver, brain, and other tissues. For a person to be affected they must inherit an affected copy of the gene from each parent.

The signs and symptoms of Wilson’s disease:
The signs and symptoms of Wilson’s disease vary widely, depending on which organ is affected. They can be mistaken for other diseases or conditions. Wilson’s disease can only be detected by a doctor and through diagnostic testing.
Hepatic dysfunction is the presenting feature in more than half of patients. Although the condition may manifest as acute hepatitis, the 3 major patterns of hepatic involvement are as follows:
Chronic active hepatitis
Cirrhosis (the most common initial presentation)
Fulminant hepatic failure
Signs of fulminant hepatic failure include the following:
Ascites and prominent abdominal veins
Spider nevi
Palmar erythema
Digital clubbing
Hematemesis
Jaundice

What’s the cause and who’s at risk for Wilson’s disease?
Wilson’s disease is inherited as an autosomal recessive trait, which means that to develop the disease you must inherit two copies of the defective gene, one from each parent. If you receive only one abnormal gene, you won’t become ill yourself, but you’re considered a carrier and can pass the gene to your children.

How is Wilson’s disease diagnosed?
Wilson’s disease may be difficult for doctors to initially diagnose. The symptoms are similar to other health issues like heavy metal poisoning, hepatitis C, and cerebral palsy.
Sometimes your doctor will be able to rule out Wilson’s disease once neurological symptoms occur and there’s no K-F ring visible. But this isn’t always the case for people with liver-specific symptoms or no other symptoms.
A doctor will ask about your symptoms and ask for your family’s medical history. They’ll also use a variety of tests to look for damage caused by copper accumulations.
A slit-lamp eye exam may show:
Limited eye movement
Rusty or brown-colored ring around the iris (Kayser-Fleischer rings)
A physical exam may show signs of:
Damage to the central nervous system, including loss of coordination, loss of muscle control, muscle tremors, loss of thinking and IQ, loss of memory, and confusion (delirium or dementia)
Liver or spleen disorders (including hepatomegaly and splenomegaly)

Treatment for Wilson’s disease
In general, a diet low in copper-containing foods is recommended with the avoidance of mushrooms, nuts, chocolate, dried fruit, liver, and shellfish.
Medical treatments are available for Wilson’s disease. Some increase the removal of copper from the body, while others prevent the absorption of copper from the diet.
Generally, penicillamine is the first treatment used. This binds copper (chelation) and leads to excretion of copper in the urine. Hence, monitoring of the amount of copper in the urine can be done to ensure a sufficiently high dose is taken.
Liver transplantation is an effective cure for Wilson’s disease but is used only in particular scenarios because of the risks and complications associated with the procedure. It is used mainly in people with fulminant liver failure who fail to respond to medical treatment or in those with advanced chronic liver disease.