Wilson's Disease: Treatment, Procedure, Cost and Side Effects

Wilson’s disease is a rare inherited genetic disorder of copper metabolism. Here, copper accumulates in the liver and then in the red blood cells (RBCs) and the brain of the individuals and causes copper poisoning in the body. Excess copper builds up in the liver, brain, eyes and other organs. Over time, these extra copper can lead to organ damage that may even cause death. Named after Dr. Wilson, this disease can be fatal if not detected early and treated. In Wilson's disease, a particular gene on chromosome 13, called ATP7B, fails to work properly. Thus, copper starts to build up in the liver and then gradually spreads to

Symptoms of Wilson’s disease begin with liver abnormalities. Liver cells may become toxic and cause inflammation. A condition called hepatitis occurs and may result into yellowish or whitish skin colour ( jaundice) ,repeated vomiting and sickness and consistent abdominal pain. If left untreated, liver scarring or cirrhosis may occur, causing greater damage. Copper deposition in brain also causes severe problems like tremors, headache, fits, depression, mood swings etc. Other symptoms include dementia, lack of concentration, heart and kidney damage.

The primary medication used to control accumulation of excess copper is called chelating agents. These bind copper and then releases it into the bloodstream. Henceforth, it is filtered by the kidneys and get eliminated through the urine. Several other medicines are used to curb the production and accumulation of copper in the body. In severe cases of Wilson’s disease, a liver transplant or surgery is required. Liver transplantation effectively cures this disease, providing a long-term survival rate.

Early diagnosis of Wilson’s disease can help prevent severe complications. The doctor may prescribe several tests in order to determine Wilson’s disease. Early detection is difficult as symptoms are similar to many other diseases and disorders. The tests include physical examination of the body, specially abdomen and eyes. Lab tests require blood samples which check abnormalities in liver enzymes, copper levels in the blood, lower levels of ceruloplasmin, low blood sugar etc. Imaging tests like Magnetic resonance imaging (MRI) and computerized tomography (CT) scans can help detect problems in the brain. For high levels of copper and signs of liver damage, a liver biopsy is done.

Wilson’s disease when detected earlier, can be treated better. Late detection will worsen the situation and treatment will be of no benefit then. Treatment of Wilson’s disease takes place in three stages. The first stage is to remove excess copper from the body through chelating therapy. Drugs like d-penicillamine and trientine, or Syprine help to remove the extra copper from the organs, clot them together and then release it into the bloodstream. The kidney then filters the copper into the urine and passes it out of the body. The second stage of the treatment includes maintenance of normal levels of copper after removal. Zinc or tetrathiomolybdate are used to keep the body from absorbing additional copper from foods. Treatment of this disease should last a lifetime and hence medicines should be taken continuously. The third stage of the treatment involves continued intake of medicines like zinc supplements in order to prevent complications. Blood and urine are routinely tested to make sure that copper remains at a safe level.

Early detection of Wilson’s disease is tough as symptoms are similar to other diseases and disorders. People with symptoms like yellow or white body color, urination problems, headache, dementia etc. should consult a doctor and undergo the necessary tests in order to detect the cause. If the content of copper is found higher than necessary, the patient becomes eligible for the treatment of Wilson’s disease.

There are some adverse effects of the drugs used to treat Wilson’s disease. Trientine and d-penicillamine, both chelating agents are used to treat the first stage of this disease. Trientine has fewer reported side effects than d-penicillamine. Potential side effects d-penicillamine include fever, rash, kidney issues, bone marrow issues in individuals. Doctors prescribe lower dosages of chelating drugs to pregnant women, as they can cause birth defects.

Even when the copper level has been brought to normal, every patient should continue to maintain that. In order to maintain the normal copper level in the body, medicines need to be taken lifelong. If stopped, copper can again start accumulating and cause liver damage. Hence, post treatment, it is important to be cautious about medicines and regular intake of medicines as prescribed is a must. On the more, copper level should be checked every month.

Treatment takes around four to six months to bring the copper level in the body back to normal. Any associated liver problems and other neurological issues gradually subside as the extra copper gets eliminated from the body and normal copper balance is re-established. Medicines should be taken life long and hence, there is no time duration for cure.

Treatment cost varies from Rs 500 to Rs 4000/-.

The final stage of treatment involves maintenance of proper copper balance in the body and prohibiting further accumulation. For this, regular medicines need to be taken lifelong. If stopped, the person can fall severely ill with liver damage. The treatment is permanent when medicines are taken regularly to maintain the level after excess copper has been drained out through the urine.

Wilson’s disease can be treated with the help of ayurveda (herbal) supplements. Also, consumption of food rich in zinc can help lower the concentration of copper in the body.