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Wilson’s Disease – Symptoms, Causes, Treatment, Prevention

By surekha

Impaired function of liver can lead to Wilson disease. Copper in excess is removed from the body through the liver and bile. But when the liver cannot function normally, it may not be able to filter and remove copper. This excess of copper will gradually accumulate in vital organs like brain, liver and even on the eyes. If left treated, this can cause various complications and even death.

Why Liver Is Important ?

Liver is an essential organ of the body in playing vital role in metabolic activities. Liver is capable of making proteins responsible for immunity and blood clotting. Further it can ingest, store and process the essential nutrients from food and distributes them to various parts of the body when needed. Liver is responsible for making bile which in turn excretes toxic materials and waste products from the body. Liver can also remove waste materials like fats and cholesterol and unwanted medications which your kidneys cannot remove.

Role Of Copper :

Copper is an important metal for healthy development of bones and nerves and it helps the skin in making melanin. Copper is found in foods like beef liver, dark chocolates, and dry fruits like almonds and apricot and lentils. Copper is easily digested and absorbed and excess is flushed out of body through bile. However, when a person has Wilson disease, his liver would not be in a position to secrete bile for removing excess of copper. This in turn gets accumulated in the body causing complications.

Wilson’s Disease Symptoms :

Very often the symptoms of Wilson disease are confused with other common diseases. Some of the symptoms of this disease include discoloration of the skin (yellow) and eyes, fatigue, loss of appetite, increased fluid accumulation in the abdomen and problems in swallowing. The person may have impaired liver function signs like nausea, vomiting, weakness, loss of weight and bloating sensation due to fluid buildup in the abdomen. Excess fluid can also affect the extremities of the body causing swelling of legs and hands. The person can develop spider angiomas on the skin.

Wilson's Disease

For some people, Wilson disease is present at birth and hence symptoms may not become evident until excess copper gets filled in the liver and brain. For some others, central nervous system gets affected causing neurological problems. People with affected central nervous system can have symptoms of muscle stiffness, uncontrolled movements, slurred speech and problems in swallowing. Sometimes mental state can also get affected due to excess of copper causing anxiety, change in personality and depression. Lastly, Wilson disease can also cause anemia, arthritis, increased level of amino acids in blood and low level of WBC.

Wilson’s Disease Causes :

Wilson disease is a genetic disease inherited by birth. It develops due to autosomal recessive genes. The person with this type of gene becomes a carrier of disease which he/she would pass it on to next generation.

Who Are At Risk ?

  • People with whose parents with Wilson disease are at high risk.
  • Age group of 5 years to 35 years is at risk.
  • It is reported that one person in every 30000 would develop Wilson disease.

Complications :

If left untreated, Wilson disease can cause liver cirrhosis, liver failure and various neurological problems. In some cases it can damage the kidney functions causing kidney failure and even death.

Tests :

  • Most of the symptoms of Wilson disease resembles other common illness and hence go unnoticed. Sometimes presence of this disease is realized while examining the blood test for other problems.
  • Your doctor would ask for blood and urine test to check the liver metabolism and levels of copper. Amount of copper flushed out of the body in specific time is measured. He may examine your eyes for identifying excess of copper deposits.
  • He may do a liver biopsy by removing tissue sample from the liver by inserting a small needle into the liver.

Wilson's Disease

Wilson’s Disease Treatment :

Treatment for Wilson disease can be categorized into 3 types namely changes in diet and lifestyle, medications and liver transplant (in severe cases).

  • Medications :

Wilson disease can be treated with chelating agents like penicillamine or Depen but this can cause some adverse effects. Syprine is another drug used for reducing copper content in the blood. Zinc acetate is given for a course to prevent the body from absorbing copper. Zinc is also given for patients orally which effectively blocks the absorption of copper by the digestive tract. Treatment is to be continued until the level of copper in blood reduces and reaches the normal level. Regular blood and urine test are done for patients to monitor the treatment and copper levels in blood.

  • Surgery

This is the final option for patients who does not respond to medications. A patient is considered fit for liver transplant if the liver has been severely damaged by cirrhosis, or acute liver failure. You need to find a donor for the surgery which is difficult. Sometimes a living person’s part of liver is surgically removed and replaced in the body of patient.

  • Diet Modification :

Foods rich in copper like shellfish, mushrooms, nuts and seeds and chocolates are to be avoided. Once the treatment is started these kinds of foods should be totally avoided. Copper in the tap water should be checked in the house of patients and suitable alternatives are to be made.

Tips For Prevention :

Parents with Wilson disease should be counseled after marriage and go for routine test to prevent passing on the disease to sibling. Genetic test can be done and genetic mutation can be done for affected people with family history.

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