Wilson’s disease is an inherited disorder that causes copper to accumulate in the liver, brain, and other vital organs. It is caused by mutations in the ATP7B gene, which encodes a protein that regulates the metabolism of copper in the body.
Presentation
The presentation of Wilson’s disease can vary widely, but common symptoms include jaundice, abdominal pain, fatigue, and neurological symptoms such as tremors, speech difficulties, and difficulty walking.
Diagnosis
Diagnosis of Wilson’s disease is typically made based on a combination of clinical presentation, laboratory findings, and imaging studies. Blood tests can be used to measure the levels of copper and ceruloplasmin (a protein that binds to copper) in the blood. In addition, a liver biopsy can be performed to measure the amount of copper in the liver. Imaging studies, such as CT or MRI, can also be used to detect liver damage.
Medical treatment
Medical treatment for Wilson’s disease typically involves the use of chelating agents, which bind to copper and remove it from the body. The most commonly used chelating agents are D-penicillamine and trientine. In addition, zinc acetate can be used to reduce the absorption of copper in the gut.
Liver transplant
In cases where liver damage is severe, liver transplantation may be necessary. However, it is important to note that even after a successful transplant, patients may continue to have neurological symptoms, and will still require long-term chelation therapy to prevent copper accumulation in the new liver.