What Is Wilson’s Disease? | Gastroenterology

Wilson's disease

Overview of Wilson’s disease

Wilson’s disease, also known as hepatolenticular degeneration and progressive lenticular degeneration, is a rare genetic disorder that causes copper poisoning in the body. It affects 1 in 30,000 people worldwide.

In a healthy body, the liver filters excess copper and releases it through the urine. With Wilson’s disease, the liver does not remove excess copper properly. The excess copper is then formed in organs such as the brain, liver and eyes.

Early diagnosis is essential to stop the progression of Wilson’s disease. Treatment involves taking medications or undergoing a liver transplant. Delay or lack of treatment can lead to liver failure, brain damage, or other life-threatening conditions.

Talk to your doctor if your family has a history of Wilson disease. Most people with this condition lead normal, healthy lives.

Symptoms of Wilson’s disease

Despite a genetic defect at birth, copper can take years to build-up to the level of damage. Symptoms generally begin to develop between the ages of 6 and 20, usually in the teens. However, you may develop symptoms for the first time in middle age.

The following symptoms may indicate copper accumulation in the liver:

  • Weakness
  • Feeling tired
  • Weight loss
  • Nausea
  • Vomiting
  • Loss of appetite
  • Itching
  • Jaundice, or yellowing of the skin
  • Pain or bloating in the abdomen
  • Spider angiomas, or visible branch-like blood vessels on the skin
  • Muscle cramps

Other symptoms of Wilson’s disease

Other features that can be developed:

  • Anaemia.
  • Kidney damage
  • Heart problems.
  • Inflammation of the pancreas (pancreatitis).
  • Recurrent spontaneous abortion in women.
  • Premature ‘thinning’ of the bones (osteoporosis).

Causes Wilson’s disease

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

Risk factors

If your parents or siblings have this condition, you are at risk for Wilson’s disease. Ask your doctor if you need a genetic test to find out if you have Wilson disease. Diagnosing the condition as early as possible dramatically increases the chances of successful treatment.

How is Wilson disease diagnosed?

Wilson’s disease is difficult for doctors to diagnose at first. Symptoms are similar to other health problems, such as heavy metal poisoning, hepatitis C, and cerebral palsy.

Your doctor can rule out Wilson’s disease once neurological symptoms appear and the K-F ring is gone. It is not always present in those who do not have specific liver symptoms or other symptoms.

A doctor will ask about your symptoms and your family medical history. They also use a variety of tests to detect damage caused by copper buildup.

Physical exam

During your physical activity, your doctor will:

  • Examine your body
  • Listen to the sounds in the abdomen
  • Check your eyes under a bright light for K-F rings or sunflower cataracts
  • Tests your motor and memory skills
  • Lab tests

For blood tests, your doctor will take samples and analyze them in the laboratory to check:

  • Liver enzyme abnormalities.
  • Blood copper levels
  • Low levels of ceruloplasmin, a protein that carries copper through the blood.
  • A mutated gene, also known as a genetic test.
  • Low blood sugar

Imaging tests

Magnetic resonance imaging (MRI) and computed tomography (CT) can help show any brain abnormalities, especially if you have neurological symptoms. These findings may not diagnose the condition, but they can help diagnose or diagnose the condition.

Liver biopsy

A liver biopsy may be indicated to detect signs of damage and high copper levels. If you agree to this procedure, you must stop taking certain medications and fast for at least eight hours.

Treatment for Wilson’s disease

Your doctor may prescribe drugs called chelating agents, which bind the copper and then ask your organs to release the copper into the bloodstream. The kidneys filter copper and release it into the urine.

Treatment then focuses on preventing the copper from rebuilding. In severe liver damage, a liver transplant may be necessary.


If left untreated, Wilson’s disease can be fatal. Serious problems:

  • Scarring of the liver (cirrhosis). When liver cells try to repair the damage caused by excess copper, scar tissue forms in the liver, making it difficult for it to function.
  • Liver failure. It can happen suddenly (severe liver failure) or it can develop slowly. Liver transplantation may be a treatment option.
  • Persistent neurological problems. With treatment for Wilson’s disease, tremors, involuntary muscle movements, awkward gait, and speech difficulties often improve. However, some people have a persistent neurological problem despite treatment.
  • Kidney problems Wilson’s disease damages the kidneys and causes problems such as kidney stones and an abnormal amount of amino acids excreted in the urine.
  • Psychological problems. These can include personality changes, depression, irritability, bipolar disorder, or psychosis.
  • Blood problems These can include the destruction of red blood cells (hemolysis) leading to anaemia and jaundice.

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