Wilson's disease or Wilson's disease is a hereditary disease that causes damage to the liver and brain. Damage This occurs due to the accumulation of copper metal in the body. This condition is rare, afflicting only 1 in every 30 thousand people worldwide.
The body gets copper from food, which is then used for the formation of blood cells and the repair of bone tissue. When not used, the body will get rid of excess copper through urine. In Wilson's disease, the body cannot get rid of excess copper.
Symptoms of Wilson's Disease
Wilson's disease primarily affects the liver and nerves. The following are symptoms of neurological disorders and liver function that arise.
Symptoms of nervous disorders
- Muscle pain, especially when moving.
- Muscle stiffness.
- Abnormal gait.
- Frequent drooling (ngeces).
- Decreased ability to speak, see and remember.
- Mood disorders and depression.
- Difficulty sleeping or insomnia.
Symptoms of impaired liver function
- Nausea and vomiting.
- No appetite.
- Stomach pain.
- Yellowing of the skin (jaundice).
- Enlarged stomach.
- Swelling in the legs.
In addition to the two disorders above, Wilson's disease also has other symptoms that vary widely, depending on the part of the body where copper accumulates.
One of the symptoms that often occurs is the accumulation of copper in the eye, namely the appearance of cataracts that are shaped like sunflowers.sunflower cataract). In addition, the cornea of the eye which should be clear, becomes surrounded by a golden-brown color (ring .). Kayser-Felischer).
Wilson's disease is caused by a change or mutation in a gene that regulates the liver's ability to remove excess copper from the body. Due to mutations, there is a buildup of copper in the liver. If the condition continues, copper will enter the bloodstream, and accumulate in other parts of the body, especially in the brain.
A person can get Wilson's disease, if both parents, respectively, have the abnormal gene. If inherited from only one parent, a person only has the potential to pass the abnormal gene back to his child later, but does not get Wilson's disease. Such gene disorders are called autosomal recessive disorders.
It is not easy to detect someone with Wilson's disease, because the symptoms and signs are similar to liver disease or other neurological diseases. The doctor will examine the patient's entire body, including the stomach and eyes.
To confirm Wilson's disease, the doctor will perform the following tests:
- blood test. Blood tests are done to assess liver function, as well as check blood copper levels and gene changes.
- urine test. The doctor will collect a sample of the patient's urine for 24 hours, to check the copper level in the urine.
- Liver biopsy. Liver biopsy (tissue sampling) is done for abnormalities that occur in the liver. The biopsy is done under local anesthesia.
- Imaging test. An MRI or CT scan can show abnormal brain or liver conditions.
Treatment for Wilson's disease aims to remove copper from the body and prevent copper from building up again in the body.
To remove copper from the body, doctors will recommend chelation therapy, which is drugs that can bind to heavy metals, including copper. Examples of drugs that can be used are penicillamine or trientine. This treatment can take 4-6 months.
After the copper is bound and removed, medication is needed to prevent the copper from building up again zinc acetate. To help prevent copper buildup, avoid eating foods high in copper, such as dried fruit, liver, mushrooms, nuts, shellfish, chocolate, and multivitamin products.
If the patient's liver damage is severe, the doctor will recommend a liver transplant, namely by replacing the patient's liver with a portion of the donor's liver that is still healthy. Liver organs can be obtained from living or deceased donors.
Wilson's Disease Complications
If left untreated, Wilson's disease can lead to some serious complications, such as:
- Permanent nervous breakdown. Neurological disorders in patients with Wilson's disease generally resolve after receiving treatment. However, some patients still experience neurological disorders, even though they have received treatment.
- Cirrhosis. Cirrhosis, or scarring of the liver, can form when the liver cells are damaged due to the hard work of removing excess copper.
- Kidney illness. Wilson's disease can damage the kidneys and cause problems such as kidney stones and kidney failure.
- Hemolytic anemia. This occurs due to the destruction of red blood cells too fast.
- Mental disorders. People with Wilson's disease are at risk for mental disorders such as psychosis, bipolar disorder, personality changes, and depression.