Wilson’s disease is a rare genetic condition where copper builds up in the brain, liver, and other vital organs. It is most commonly diagnosed in people between 5 and 35. While it is more common in children, it can also occur in adults. 

Copper is necessary for the development of healthy nerves, bones, collagen, and melanin in the skin. It is normally absorbed from meals and expelled by a chemical made by your liver (bile). 

However, copper isn’t adequately removed in patients with Wilson’s disease—instead, it accumulates, sometimes to dangerous levels. Wilson’s disease is curable if detected early, and many people with this disorder lead normal lives.

Causes

• Wilson’s disease is caused by a malfunction of a gene called ATP7B on chromosome 13.

• This gene controls how the liver cells dispose of excess copper. Excess copper is usually excreted by liver cells into the bile. If this process fails, copper accumulates in the liver cells. 

• When the liver cells’ copper storage capacity is depleted, copper leaks into the bloodstream and accumulates in other parts of the body, primarily the brain.

• The ATP7B gene affects about one in every 100 people. When two people with the aberrant gene conceive a child,

  • The child has a one-in-four likelihood of having Wilson’s disease (inheriting the abnormal ATP7B gene from both parents).

  • The child has a one-in-two probability of not having Wilson’s disease but is a carrier (inheriting the abnormal ATP7B gene from one parent and the normal gene from the other parent).

Signs and symptoms

Wilson’s disease may be present at birth, but symptoms do not show until copper levels in the brain, liver or other organs have increased. The signs of the condition differ depending on which sections of the body are affected. They may include:

• Fatigue, loss of appetite, or stomach pains
• The skin and the whites of the eyes turn yellow (jaundice)
• Golden-brown discoloration of the eyes (Kayser-Fleischer rings)
• An accumulation of fluid in the legs or abdomen
• Difficulty in speech, swallowing, or physical coordination
• Muscle stiffness or uncontrollable motions

Diagnosis and tests

Doctors may find it challenging to identify Wilson's illness at first. The signs and symptoms are comparable to heavy metal intoxication, hepatitis C, and cerebral palsy.

When neurological symptoms appear, and no K-F ring is present, your doctor may be able to rule out Wilson's illness. However, this isn't always the case for persons who have only hepatic symptoms or none at all.

A doctor will inquire about the symptoms and the medical history of one’s family. They'll also run a series of tests to see whether there's any damage from copper buildup.

Body examination

During an examination, the doctor will do the following procedures:

• Examine the entire body
• Pay attention to the sounds in the abdomen
• In bright light, look for KF rings and sunflower cataracts
• Put the patient’s athletic ability and memory to test

Clinical examination

The doctor will take a sample of blood and analyze it in the laboratory to check the following:

• Liver enzyme abnormalities 
• Blood copper level 
• Low levels of ceruloplasmin, a copper-transporting protein in the blood
• Mutant genes through genetic testing 
• Hypoglycemia

Urine Test

To screen for copper buildup, the doctor may want to keep a check on the amount of copper in the patient’s urine for 24 hours.

Imaging 

In the case of psychological issues induced by Wilson's illness, MRI and CT scans are used to reveal any abnormalities in the brain.

Liver biopsy

The doctor may recommend a liver biopsy to determine the extent of damage caused by a greater copper concentration in the body.

Treatment

Treatment for Wilson's illness is more dependent on timing than on medication. Treatment normally takes three stages and lasts a lifetime. Copper might build up again if a person stops taking the drugs.

• First stage: The goal of the first stage of treatment is to get rid of excess copper in the body. Drugs containing chelating agents, such as d-penicillamine, trientine, or Syprine, are particularly effective at this stage.
• Second stage: After removal, the copper levels are maintained at this stage. The doctor may prescribe zinc or tetrathiomolybdate if one has finished the initial treatment or have no symptoms but have Wilson's disease.
• Third stage: After the symptoms have subsided and the copper levels have restored to normal, the focus of treatment shifts to long-term maintenance therapy. This includes taking zinc or chelating medicine as needed and monitoring copper levels on a regular basis.

To keep your copper levels in balance, avoid foods high in copper, such as multivitamins, dried fruit, liver, mushrooms, nuts, shellfish, and chocolate.

Risk factors

Wilson’s disease is more likely to impact a person if their parents or siblings have it. One should inquire with their doctor about genetic testing to determine if they have Wilson’s disease. Diagnosing the problem as soon as possible improves the chances of successful treatment.

Complications

Wilson’s disease can be lethal if left untreated. The following are serious complications

• Hepatitis scarring (cirrhosis): Scar tissue grows in the liver when liver cells try to heal the damage caused by excess copper, making it more difficult for the liver to operate.
• Failure of the liver: This can happen quickly (acute liver failure) or gradually over time (slow liver failure). A liver transplant may be a possibility for treatment.
• Interminable neurological issues: Wilson’s disease treatment frequently improves tremors, involuntary muscular movements, clumsiness in gait, and speech impairments. Despite treatment, however, some people continue to suffer neurological issues.
• Kidney problems: Wilson’s disease can damage the kidneys, resulting in kidney stones and an excessive amount of amino acids secreted in the urine, among other issues.
• Psychological problems: Personality changes, depression, irritability, bipolar illness, and psychosis are some of the effects that might occur.
• Blood problems: Anemia and jaundice can result from the destruction of red blood cells (hemolysis).

       In someone experiencing symptoms, medications can take four to six months to take effect. If                 these treatments fail, a liver transplant may be necessary. A successful liver transplant can cure               Wilson's disease.