Wilson's disease

Posted by e-Medical PPT
Wilson's disease  is an autosomal recessive genetic disorder in which copper accumulates in tissues; this manifests as neurological or psychiatric symptoms and liver disease. It is treated with medication that reduces copper absorption or removes the excess copper from the body, but occasionally a liver transplant is required.The condition is due to mutations in the Wilson disease protein (ATP7B) gene.If a child inherits the gene from both parents, they may develop Wilson's disease. Symptoms usually appear between the ages of 6 and 20 years, but cases in much older people have been described.
The main sites of copper accumulation are the liver and the brain, and consequently liver disease and neuropsychiatric symptoms are the main features that lead to diagnosis.
Liver disease may present as tiredness, increased bleeding tendency or confusion (due to hepatic encephalopathy) and portal hypertension. The latter, a condition in which the pressure in the portal vein is markedly increased, leads to esophageal varices that may bleed in a life-threatening fashion, splenomegaly and ascites. On examination, signs of chronic liver disease such as spider naevi may be observed. Chronic active hepatitis has caused cirrhosis of the liver in most by the time they develop symptoms. While most people with cirrhosis have an increased risk of hepatocellular carcinoma , this risk is relatively very low in Wilson's disease.
Various medical conditions have been linked with copper accumulation in Wilson's disease:
    * Eyes: Kayser–Fleischer rings (KF rings) may be visible around the iris. They are due to copper deposition in Descemet's membrane of the cornea. They do not occur in all people and may only be visible on slit lamp examination.
Kidneys: renal tubular acidosis, a disorder of bicarbonate handling by the proximal tubules leads to nephrocalcinosis
About half the people with Wilson's have neurological or psychiatric problems.neurological symptoms then follow, often in the form of parkinsonism with or without a typical hand tremor, masked facial expressions, slurred speech, ataxia or dystonia . Seizures and migraine appear to be more common in Wilson's disease.
There is no totally reliable test for Wilson's disease, but levels of ceruloplasmin and copper in the blood, as well of the amount of copper excreted in urine during a 24-hour period, are together used to form an impression of the amount of copper in the body. The gold standard or most ideal test is a liver biopsy.
Generally, penicillamine is the first treatment used. This binds copper and leads to excretion of copper in the urine.Liver transplantation is an effective cure for Wilson's disease, but is used only in particular scenarios because of the numerous risks and complications associated with the procedure. It is used mainly in people with fulminant liver failure who fail to respond to medical treatment, or in those with advanced chronic liver disease.


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