It is a genetic disease that affects copper metabolism. The liver cannot excrete copper sufficiently, which causes copper to accumulate in the body. Copper accumulation can damage the liver, brain, eyes and other organs. Wilson's disease Symptoms include liver diseases and nervous system problems. Treatment includes drugs that increase copper excretion and a low copper diet. Early diagnosis is important.

What are the symptoms of Wilson's disease?

Jaundice (yellowing of the eyes and skin), swelling of the abdomen (ascites), and easy bruising. Weakness, loss of appetite, nausea, and abdominal pain. Tremors, muscle stiffness or loss of muscle control. Balance problems and trouble walking. Depression and anxiety. Temper tantrums, social withdrawal. Problems with concentration and memory. A brown or gold-colored ring around the cornea of the eye due to copper buildup.

Increased protein excretion in the urine. Destruction of red blood cells (hemolytic anemia). Pain due to joint inflammation may be observed. Wilson's disease If diagnosed early, it can be treated with medications that reduce copper accumulation. If symptoms are noticed, it is important to see a doctor.

What Causes Wilson's Disease?

Wilson's disease, is inherited in an autosomal recessive manner. This means that a mutated gene must be inherited from both parents. The parents are carriers of the gene but usually show no symptoms of the disease. The ATP7B gene mutation prevents copper from being excreted from the liver through bile. This causes copper to reach toxic levels in the body. The liver is forced to store the excess copper.

Over time, the liver can no longer carry this load, and copper passes into the bloodstream and spreads to other organs. Accumulation is especially seen in the brain, kidneys and eyes. Wilson's disease If left untreated, it can lead to serious liver and neurological damage. Therefore, early diagnosis and treatment have a positive effect on the course of the disease. Treatment is usually carried out with drugs that increase copper excretion or a low copper diet.

How Is Wilson's Disease Treated?

Penicillamine binds copper accumulated in the body and allows it to be excreted through urine. This drug is usually the first choice of treatment. Trientine is an alternative to penicillamine with fewer side effects. Zinc salts block the absorption of copper from the intestines and slow the progression of the disease. Zinc therapy is usually preferred for maintenance treatment. It is recommended to avoid foods high in copper (for example, shellfish, mushrooms, nuts and chocolate).

To reduce daily copper intake, make sure that water does not come from copper pipes. Liver transplantation is required in advanced stage patients with impaired liver function. This procedure is one of the most effective methods of preventing copper accumulation in the body. Copper levels are monitored with regular blood and urine tests. Response to treatment and side effects of medications are constantly monitored. Wilson's disease, can be controlled with early diagnosis and appropriate treatment. If left untreated, serious liver damage and neurological problems can develop. Therefore, regular doctor follow-up after diagnosis is very important.