It occurs when the body cannot process copper properly. Copper that accumulates in the liver can damage the brain and other organs. Wilson's disease It is a genetic disease and can be fatal if left untreated. Symptoms include liver problems, mental changes and movement disorders. Treatment can help control copper accumulation and improve quality of life.
What are the symptoms of Wilson's disease?
Liver function may deteriorate and chronic fatigue may develop. With liver damage, yellowing of the skin and whites of the eyes may occur. Fluid accumulation in the abdomen (ascites) may occur due to liver failure.
Liver inflammation may occur, leading to liver damage. If the nervous system is affected, hand or body tremors may occur.
Wilson's disease When experienced, there may be slowing of movements or lack of coordination. Muscle stiffness and contraction can make daily activities difficult. As in Parkinson's disease, a decrease in facial expressions may be observed. Imbalance and walking disorders may develop.
Depression symptoms such as feeling depressed, loss of interest and hopelessness may develop. Behavioral changes such as extreme irritability, anxiety and distraction may occur. Forgetfulness and difficulty in focusing may occur. Copper accumulated around the cornea of the eye can create brown-greenish rings. This condition can usually be detected by an eye doctor.
Muscles may weaken and physical weakness may occur. Joint pain and bone and joint problems such as arthritis may develop. Blood cell deterioration (hemolytic anemia) may occur. Kidney function may deteriorate and blood may be seen in the urine.
These symptoms may vary depending on the progression of the disease and which organs in the body it affects. Wilson's disease Early diagnosis and treatment is extremely important to prevent organ damage.
What Causes Wilson's Disease?
The main reason is a mutation in the ATP7B gene, which allows copper to be excreted from the liver. This mutation prevents copper from being excreted from the body through bile. Copper accumulates in the body, especially in organs such as the liver, brain, kidneys and eyes, causing damage. Wilson's disease, It is an autosomal recessive genetic disease, meaning that a person must receive a defective copy of the ATP7B gene from both parents for the disease to occur.
The liver holds most of the copper and under normal conditions copper is excreted through bile. In this disease, the mechanism is disrupted and copper accumulates in the liver. The accumulated copper damages the organs by creating oxidative stress. In particular, liver cirrhosis, brain damage and neurological disorders occur.
Since the mutation in the ATP7B gene prevents copper from being excreted into bile, copper cannot be excreted from the body and accumulates. It can be controlled with early diagnosis and treatment. However, it is a disease that causes serious organ damage if left untreated.
How Is Wilson's Disease Treated?
Chelators bind excess copper in the body and allow it to be excreted through urine. The most commonly used drugs are Penicillamine and Trientine. Penicillamine is effective in reducing copper accumulation. However, it can cause allergic reactions and side effects.
Trientine helps to eliminate copper by binding it in the urine. It is used as an alternative to penicillamine, with fewer side effects. Zinc prevents further copper entry into the body by blocking copper absorption in the intestines. It plays an important role in keeping copper levels under control. It is usually used at the beginning of the disease or after chelator treatment.
Zinc acetate is usually preferred as a long-term treatment. Avoiding foods high in copper in the diet is an important part of treatment. Copper-rich foods such as dried fruit, shellfish, legumes, chocolate, and mushrooms should be limited.
In advanced cases where liver damage is irreversible, a liver transplant may be necessary. Transplantation can be a definitive solution to stop the disease. It is performed on patients who develop liver failure or who do not respond to other treatments.
Copper levels, liver and kidney functions should be monitored regularly during treatment. Doctor check-ups are very important to evaluate the effectiveness of the treatment. In some cases, hepatoprotective drugs are used to protect the liver and reduce liver damage. These drugs support the general health of the liver.
Wilson's disease Early diagnosis and regular treatment are important in its treatment. It is of great importance in preventing liver damage and neurological complications. The earlier the treatment is started, the lower the risk of complications.
