Wilson's disease, sometimes referred to as hepatolenticular degeneration, is an uncommon hereditary condition marked by an improper copper metabolism. This illness, named for its 1912 description by Dr. Samuel Alexander Kinnier Wilson, affects about 1 in 30,000 people globally. Wilson's illness is mostly caused by a mutation in the ATP7B gene, which is essential for controlling the body's copper levels. Normally, this gene produces a protein that enters the liver and moves extra copper from different tissues, where it is eliminated as bile. On the other hand, a mutation in the ATP7B gene causes copper to build up in the liver and eventually leak into the kidneys, eyes, brain, and other organs, causing a variety of symptoms. Liver dysfunction is one of the most prevalent symptoms of Wilson's disease. If ignored, inflammation brought on by an excess of copper in the liver can result in cirrhosis or hepatitis. Abdominal pain, enlarged liver or spleen, and jaundice (yellowing of the skin and eyes) are possible symptoms for patients. It's crucial to remember that some Wilson's disease patients may have few or no liver symptoms, which can make diagnosis difficult. Another distinguishing feature of Wilson's illness is its neurological manifestations, which can happen at any age but often arise between the ages of 6 and 45. Movement abnormalities include tremors, dystonia (involuntary muscular contractions), and poor coordination can result from copper accumulation in the brain. In addition, patients may display psychological symptoms such anxiety, despair, and personality changes. In extreme circumstances, people may experience dystonia-parkinsonism associated with Wilson's illness, which mimics the signs and symptoms of Parkinson's disease. Wilson's illness frequently manifests as ocular symptoms well.Overabundance copper accumulates in the cornea of the eye, forming the distinctive golden-brown rings known as Kayser-Fleischer rings. These rings may not always be apparent to the unaided eye and may need to be detected by an eye care specialist doing a specialized examination under a slit lamp.Clinical symptoms, blood tests to measure copper levels, and genetic testing to find ATP7B gene mutations are all used in the diagnosis of Wilson's illness.Zinc supplements are used to stop the absorption of copper and chelators are used as part of a treatment plan that aims to reduce copper buildup. Liver transplantation can be required in extreme circumstances.
