What Is Wilson's Disease? Diagnosed 8-Year-Old Undergoes Liver Transplant While In Coma

What Is Wilson's Disease?

Wilson's disease causes excessive amounts of copper to accumulate in the body, particularly in the liver, brain, and eyes [1]. Wilson's disease usually appears between the ages of six and 45, although it is most commonly diagnosed during the teenage years. The condition is characterized by liver disease as well as neurological and psychiatric problems.

Copper is important for the development of healthy nerves, bones, collagen, and the pigment melanin in the skin. Copper is absorbed from food, and excess is excreted from the body through a substance produced in the liver (bile).

Wilson's disease, however, prevents copper from being properly eliminated and instead accumulates, potentially to life-threatening levels [2].

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What Causes Wilson's Disease?

Mutations in the ATP7B gene cause Wilson's disease. A genetic disease is determined by two genes, one received from the father and one from the mother.

Copper-transporting ATPase 2 is made from this gene and is involved in the transport of copper from the liver to other parts of the body [3].

Wilson's disease is inherited as an autosomal recessive trait, which means that both parents must carry the defective gene in order to develop the disease. So even if you receive only one abnormal gene, you won't become ill, but you will be a carrier and can pass the gene on to your children.

What Are The Symptoms Of Wilson's Disease?

Wilson's disease is present at birth, but signs and symptoms do not appear until copper builds up in the brain, liver or another organ. The signs and symptoms of the disease differ depending on the part of the body it affects. For instance, they might include the following [4]:

• Yellowing of the skin and the whites of the eye (jaundice)
• Golden-brown eye discolouration (Kayser-Fleischer rings)
• Fluid build-up in the legs or abdomen
• Fatigue, lack of appetite or abdominal pain
• Problems with speech, swallowing or physical coordination
• Uncontrolled movements or muscle stiffness

What Are The Risk Factors For Wilson's Disease?

Wilson's disease can be passed down through your family. If your parents or siblings have the condition, you may be at an increased risk. If you want to know if you have Wilson's disease, ask your doctor about genetic testing. The likelihood of a successful outcome increases dramatically when the condition is diagnosed as early as possible [5].

What Are The Complications Of Wilson's Disease?

Wilson's disease can be fatal if left untreated. Serious complications include the following [6]:

• Scarring of the liver (cirrhosis)
• Liver failure can occur suddenly, or it can develop slowly over the years
• Persistent neurological problems such as tremors, involuntary muscle movements, clumsy gait and speech difficulties. However, some people have persistent neurological difficulty despite treatment
• Kidney problems
• Psychological problems such as personality changes, depression, irritability, bipolar disorder or psychosis
• Blood problems such as the destruction of red blood cells (haemolysis) leading to anaemia and jaundice

How Is Wilson's Disease Diagnosed?

Wilson's disease is sometimes difficult to diagnose because its symptoms can be confusing to those of other liver diseases, such as hepatitis [7]. Additionally, symptoms can develop over time, and the gradual onset of behavioural changes can be difficult to attribute to Wilson's.

Diagnoses are made based on a combination of symptoms and test results. Testing and procedures used to diagnose Wilson's disease include the following [8]:

• Blood and urine tests
• Eye exam
• Removing a sample of liver tissue for testing (biopsy)
• Genetic testing

How Is Wilson's Disease Treated?

Your doctor might recommend medications called chelating agents, which bind copper and release it into your bloodstream. Your kidneys then filter the copper and release it into your urine. The treatment then focuses on preventing copper from building up again. In severe cases, liver transplantation may be necessary [9].

Medications for Wilson's disease are lifelong. For symptom relief, your doctor may also prescribe other medications.

If your liver damage is severe, you might need a liver transplant. A surgeon replaces your diseased liver with a healthy one from a donor during a liver transplant.

Are There Any Home Remedies For Wilson's Disease?

Wilson's disease has no home remedies, but your doctor may recommend limiting your copper intake in your diet if you have it. If you have copper pipes in your home, you may want to test the copper levels in your tap water. You should also avoid multivitamins that contain copper.

Foods that contain high amounts of copper include [10]:

• Liver
• Shellfish
• Mushrooms
• Nuts
• Chocolate