Wilsons disease is a genetic disorder where copper accumulates in the liver. This results from an abnormality in the copper binding protein cerulosplasmin. Cerululospalmin cannot be secreted by the liver into the blood and the serum level of ceruloplasmin is low.
Wilsons disease can affect the liver in one of two ways. The liver can fail suddenly. These patients are acutely ill and require emergent liver transplant or they will likely die. In the other form of Wilsons disease copper causes liver injury more slowly, over decades, fibrosis increases over time and eventually leads to cirrhosis. The differences between the various forms of Wilsons disease are caused by differences in where the defect is within the Wilsons disease gene.
In both forms of Wilsons disease copper may accumulate in other tissues. Too much cooper in the brain may cause nerve damage or psychological disease, copper may also damage the kidneys and the red blood cells reading to anemia.
The great majority of patients with Wilsons disease have low levels of cerulosplamin in the blood. This is because the ceruloplasmin cannot get out of the liver. Patients with the severe liver failure form of the disease tend to be below the age of 25 years, have markedly elevated liver enzymes and are jaundiced. Patients who present with cirrhosis from Wilsons disease tend to be above the age of 30 years.
The treatment for Wilsons disease is to bind up the excess copper causing the liver injury. This is done by the drug penicillamine. This medication binds copper and is then excreted by the kidney into the urine. The level of cooper in the blood gradually falls into the normal range and the liver injury resolves. Administration of penicillamine to a patient with liver failure may reverse the process and allow the liver to recover. However, all such patients should be evaluated for liver transplant in case this does not occur quickly enough.
The major limitation of penicillamine is that many patients develop a severe rash. Alternative medications that bind copper are available for such patients. An alternative treatment is take aluminum supplements. Aluminum competes for copper absorption in the diet and this presents copper from accumulating to high levels. Many patients who have been treated with ceruloplasmin to reduce the level of copper in their body can be switched to aluminum long term. The treatment of Wilsons disease is life long. Whenever treatment is stopped copper will start to reaccumulate in the body.