Wilson disease is one of the hereditary diseases caused by the accumulation of copper in the liver, brain, heart, kidney and eye. The cause of the disease is actually a defect in the metabolism of the copper element in the body. Wilson disease is a recessive genetic defect in which, both parents are carriers of the disease but none of them have infected by the disease.

Symptoms:

Symptoms vary from person to person depending on the involved organ and in most cases, appear after the age of 5. Liver symptoms usually appear before the age of 30 but psychological symptoms occur between the first and the fifth decades of life.

Liver symptoms:

1. Enlarged liver (hepatomegaly)
2. Hepatitis
3. Acute liver failure
4. Cirrhosis
5. Jaundice
6. Ascites (accumulation of liquid inside the abdomen)
7. Swelling
8. Esophageal bleeding
9. Blood coagulation problems

Symptoms of nervous system involvement:

Diagnosing these symptoms are usually difficult, including:

1. Handshake
2. Talking disorder
3. Educational problems
4. Writing disability
5. Psychopathy or behavioral disorder such as irritability and uncontrollable anger especially in adolescence.

Causes of disease:

Each person receives one to three milligrams of copper daily through food. Some foods are rich in copper, such as mussels, liver, mushrooms, chocolates and nuts. Fifty percent of the received copper, absorbed through the stomach and intestine; then enters the bloodstream and eventually enters the liver cells through the hepatic vein and transform in different ways. Some of the copper in the liver cells is used to produce the enzyme, some other amount, adheres to a protein called Ceruloplasmin, and the rest is secreted into the bile and then excreted through the stool. In Wilson disease, the malfunction of the last two mechanisms, results in the accumulation of copper in the liver cells. In the next stage of the disease, in addition to the liver, copper sediment in other organs such as the kidney, brain and cornea. Sometimes, copper also released suddenly from the liver and causes severe damage to the liver, kidneys and red blood cells.

Diagnosis:

The best diagnostic test for Wilson disease is examining the copper amount inside the liver cells by performing liver biopsy.

Treatment:

• Medication:

Copper repellent drugs are prescribed to prevent the copper accumulation. These drugs adheres to copper and facilitate its excretion from the body. Thousands of Wilson patients in the world, take care of their health by taking these relevant drugs accurately. In some cases, despite appearing the disease complications, medication can cause the symptoms disappearance.

It should be noted that these medicines should be taken for life time and under the supervision of a physician, otherwise the patient will infected with fatal complications.

• Diet:

The amount of copper received from the foods should decrease to one milligram in a day and also foods rich in copper including mussels, liver, mushrooms, chocolates and nuts should not be eaten. Consult a nutritionist for your diet.

Liver transplantation should be performed in case of treatment failure or severe liver failure occurs.

Tips:

The progression of the disease is related to the starting time of medication and the amount of body response to copper repellent drugs. Fortunately, these drugs prevent complications to a significant degree, and the patient can lead a healthy and productive life with proper and accurate diet and medication.