Wilson’s Disease
Wilson’s disease is a rare genetic disorder that affects the body’s ability to metabolize copper. It affects about 1 in 30,000 people worldwide. Copper is an essential mineral that is found in many foods and is necessary for the proper functioning of the body’s enzymes and proteins. In Wilson’s disease, the body is unable to remove excess copper, which can build up in the liver, brain, and other organs and cause damage.
Wilson’s disease is caused by a genetic mutation that affects the ATP7B gene, which is responsible for the production of a protein that helps to transport copper out of the liver and into the bile. It is important to detect and treat Wilson’s disease early, as untreated or undiagnosed cases can lead to severe damage to the liver, brain, and other organs, and can be fatal.
Symptoms
- Abdominal pain.
- Fatigue.
- Poor appetite.
- Jaundice or yellowing of the skin and the whites of the eye.
- Golden-brown eye discoloration (Kayser-Fleischer rings).
- Fluid buildup in the legs or abdomen.
- Tremors, uncontrolled movements, stiffness, and difficulty walking, speaking, or swallowing.
- Psychiatric symptoms such as depression, anxiety, or hallucinations.
Tests
The diagnosis of Wilson’s disease can be done through blood tests, urine tests, eye examination, and liver biopsy. Early diagnosis is crucial for stopping the progression of Wilson’s disease.
Treatment
Treatment for Wilson’s disease typically includes medications such as penicillamine, trientine, or zinc acetate, which help to remove excess copper from the body, and a low copper diet. In some cases, liver transplantation may be necessary to treat advanced disease.
FAQs
Wilson’s disease is a rare genetic disorder that affects the body’s ability to metabolize copper, leading to a build-up of copper in the liver, brain, and other organs, and causing damage to the organ.
Symptoms of Wilson’s disease may include abdominal pain, jaundice, fatigue, tremors, stiffness, and difficulty walking, speaking, or swallowing. Some people with Wilson’s disease may also experience psychiatric symptoms such as depression, anxiety, or hallucinations.
Wilson’s disease is caused by a genetic mutation that affects the ATP7B gene, which is responsible for the production of a protein that helps to transport copper out of the liver and into the bile.
The diagnosis of Wilson’s disease can be done through blood tests, eye exam urine tests, and liver biopsy.
Treatment for Wilson’s disease typically includes medications such as penicillamine, trientine, or zinc acetate, which help to remove excess copper from the body, and a low copper diet. In some cases, liver transplantation may be necessary to treat advanced disease.
Wilson’s disease cannot be cured, but it can be treated and managed.