Wilson's disease is a genetic disorder that causes excess copper to accumulate in the body. The disease causes excess copper to accumulate in the liver, brain, kidneys and other organs as a result of an inability to excrete it. Wilson's disease is caused by mutations in the ATP7B gene, a protein that keeps copper at normal levels in the body. Left untreated, the disease can progress and cause life-threatening problems. However, with the right diagnosis and treatment, this disease can be controlled.
Wilson's disease is a genetic disease, so family history and genetic counseling are important to assess risk factors and identify carriers of the disease. Treated patients should be monitored regularly by their doctor.
What Causes Wilson's Disease?
The main cause of Wilson's disease is mutations in the ATP7B gene. Mutations of this gene lead to an abnormal accumulation of copper and harmful effects in the body. Wilson's disease is a genetic disease, usually based on family history, and is inherited in an autosomal recessive manner, meaning there is a risk if both parents are carriers.
Furthermore, Wilson's disease is caused by mutations in the ATP7B gene that prevent copper from being properly metabolized and excreted in the body. As a result of these mutations, copper accumulates in the organs and leads to Wilson's disease. Genetic counseling and testing can be used to assess the risk of the disease and for early diagnosis.
What are the symptoms of Wilson's disease?
The symptoms of Wilson's disease can vary depending on the organ damage caused by excess copper accumulating in the body. Symptoms of the disease usually start in young adulthood or adolescence, but can occur at any time of life. Symptoms of Wilson's disease may include
Liver Problems: The accumulation of excess copper in the liver can lead to problems such as hepatitis (inflammation of the liver) and cirrhosis of the liver. Jaundice (yellowing of the skin and eyes) may also occur.
Neurological Symptoms: Neurological problems can occur as a result of excess copper affecting the brain. These can include tremors, lack of coordination, difficulty speaking, weakness and psychiatric problems.
Eye Problems: The accumulation of copper in eye tissue can lead to marked discoloration of the eyes.
Liver Cysts: Some patients with Wilson's disease may experience additional liver problems, such as cysts in the liver.
Hematologic Problems: In some cases, blood-related problems such as blood clotting problems and low platelet counts may occur.
How is Wilson's Disease Diagnosed?
Wilson's disease is diagnosed using a medical evaluation, physical examination, blood and urine tests, eye examination, liver biopsy and genetic testing. Family history and symptoms are considered because Wilson's disease is a genetic disorder. Blood and urine tests are used to check copper levels, with high copper levels often associated with symptoms of this disease.
An eye examination can help detect Kayser-Fleischer rings. A liver biopsy can be used to assess copper accumulation and damage. Genetic testing is done to detect mutations in the ATP7B gene and plays an important role in confirming the diagnosis of the disease. Early diagnosis and treatment can control the effects of Wilson's disease.
How is Wilson's disease treated?
Treatment of Wilson's disease aims to remove excess copper from the body and prevent its accumulation. Treatment methods may include:
Medication: Medications used to treat Wilson's disease work by binding excess copper that has accumulated in the body and encouraging its removal.
Copper Restriction: It is important to limit copper intake in the diets of people with Wilson's disease. Foods high in copper, especially chocolate, nuts, shellfish and mushrooms, should be avoided.
Zinc Therapy: Zinc can reduce copper absorption in the intestines. Therefore, zinc supplements may be used in some cases. Zinc can help remove copper accumulated in the body.
Regular follow-up: People with Wilson's disease should be monitored with regular doctor check-ups. Blood tests and other medical evaluations are used to monitor response to treatment and to control disease progression.
Liver Transplant: Some patients who develop cirrhosis of the liver due to Wilson's disease may need a liver transplant. This involves transplanting a healthy donor liver to replace the severely damaged liver.
Starting treatment early can control the effects of Wilson's disease and improve the patient's quality of life. Medicines and dietary changes can reduce the symptoms of the disease and control copper accumulation. However, it is important to stick to treatment and follow regular medical follow-up. It is important to discuss your Wilson's disease treatment recommendations and follow-up plan with a specialist.