What is Wilsons disease
Wilsons disease description. Find out what Wilsons disease is and know more about it.
Wilson's disease is a rare genetic disorder that affects the body's ability to metabolize copper. It is characterized by the accumulation of copper in various organs, particularly the liver and brain. This condition is caused by a mutation in the ATP7B gene, which is responsible for transporting excess copper out of the body. Without proper functioning of this gene, copper builds up over time and becomes toxic.
Wilson's disease can manifest with a wide range of symptoms, including fatigue, jaundice, abdominal pain, neurological problems, and psychiatric disturbances. If left untreated, it can lead to severe liver damage, neurological deterioration, and even death.
Diagnosis of Wilson's disease involves a combination of clinical evaluation, blood tests to measure copper levels, and genetic testing to confirm the presence of the ATP7B gene mutation. Treatment typically involves lifelong management with medications that help remove excess copper from the body, such as chelating agents or zinc salts.
Early detection and treatment are crucial in managing Wilson's disease and preventing long-term complications. Regular monitoring and adherence to treatment can allow individuals with this condition to lead relatively normal lives.
