Detailed Description of Wilson Disease by Dr Arun Aggarwal Gastroenterologist

Wilson disease is a genetic disorder that prevents the body from removing extra copper, causing copper to build up in the liver, brain, eyes, and other organs.
Your body needs a small amount of copper from food to stay healthy, but too much copper is harmful. Without treatment, Wilson disease can lead to high copper levels that cause life-threatening organ damage.

Liver symptoms

People with Wilson disease may develop symptoms of hepatitis, or inflammation of the liver. In some cases, people develop these symptoms when they have acute liver failure. These symptoms may include:

• feeling tired
• Nausea and vomiting
• poor appetite
• pain over the liver, in the upper part of the abdomen
• darkening of the colour of urine
• lightening of the colour of stool
• yellowish tint to the whites of the eyes and skin, called jaundice

Some people with Wilson disease have symptoms only if they develop chronic liver disease and complications from cirrhosis. These symptoms may include

• feeling tired or weak
• losing weight without trying
• bloating from a build-up of fluid in the abdomen, called ascites
• swelling of the lower legs, ankles, or feet, called edema
• itchy skin
• jaundice

Nervous system and mental health symptoms

People with Wilson disease may develop nervous system and mental health symptoms after copper builds up in their body. These symptoms are more common in adults but sometimes occur in children.⁷ Nervous system symptoms may include

• problems with speech, swallowing, or physical coordination
• stiff muscles
• tremors  or uncontrolled movements\

Mental health symptoms may include

• Anxiety
• changes in mood, personality, or behaviour
• Depression
• Psychosis 

Eye symptoms

Many people with Wilson disease have Kayser-Fleischer rings, which are greenish, gold, or brownish rings around the edge of the corneas . A buildup of copper in the eyes causes Kayser-Fleischer rings. A doctor can see these rings during a special eye exam called a slit-lamp exam.
Among people who have nervous system symptoms of Wilson disease, more than 9 out of 10 have Kayser-Fleischer rings. However, among people who have only liver symptoms, 5 or 6 out of 10 have Kayser-Fleischer rings.⁷
Many people with Wilson disease have Kayser-Fleischer rings.
Source: Obtained from the Wilson Disease Association

Other symptoms and health problems

Wilson disease can affect other parts of your body and cause symptoms or health problems, including

• a type of anemia called hemolytic anemia 
• bone and joint problems, such as arthritis  or osteoporosis 
• heart problems, such as cardiomyopathy 
• kidney problems, such as renal tubular acidosis and kidney stones

Diagnosis

Doctors diagnose Wilson disease based on your medical and family history, a physical exam, an eye exam, and tests.

What tests do doctors use to diagnose Wilson disease?

Doctors typically use blood tests and a 24-hour urine collection test to diagnose Wilson disease. Doctors may also use a liver biopsy and imaging tests.

Treatment

Doctors treat Wilson disease with

1. Medicines that remove copper from the body, called chelating agents
2. Zinc, which prevents the intestines from absorbing copper

What should I avoid eating if I have Wilson disease?

When you start treatment for Wilson disease, your doctor may recommend avoiding foods that are high in copper, such as

• chocolate
• liver
• mushrooms
• nuts
• shellfish