Wilson's disease is an inherited disorder characterized by extreme build-up of copper. It is estimated that the condition affects approximately 1 out of 30,000 individuals. In people suffering from Wilson's disease the body is not capable of eliminating copper. Intake of food containing copper leads to accumulation of copper and its build-up in different organs. The very presence of copper affects functions of these organs and may be associated with long term damage. In majority of cases excess copper is localized in the liver, brain, cornea and kidneys.
Why does Wilson's Disease Occur?
This is an inherited disease which develops as a result of damage to the chromosome 13. Namely, there is damage to a specific gene ATP7B. The gen is in charge with elimination of copper from the body by stimulating production of certain liver enzymes. Copper is normally excreted by the liver in the bile. However, patients suffering from Wilson's disease do not have such ability and they end up with large amounts of copper distributed all over the body.
Wilson's Disease Clinical Characteristics
In spite of the facts that genetic predisposition to copper build-up exists since the birth, the first symptoms and signs may start to occur after many years. Typically the disease becomes symptomatic between the age of 6 and 20.
Liver problems are the first to occur. Toxic effects of excess of copper develop in a form of hepatitis, inflammation of the liver accompanied by jaundice, abdominal pain, nausea and vomiting. Prolonged inflammation of liver tissues leads to scarring and can have long-term consequence. The most severe complication is liver cirrhosis and accompanying liver failure.
Brain problems in individuals suffering from Wilson's disease develop due to copper build-up in different parts of the brain. Because of that there is a variety of neurological and psychological problems patients can suffer from. For example, there may be tremor of the arms, slowness of movement, difficulty with speech, writing problems, difficulty swallowing, seizures etc. Furthermore, patients may develop depression, suffer from mood swing and become unable to concentrate. Left untreated, Wilson's disease may be responsible for severe muscle weakness or rigidity and dementia.
Excess copper may also affect the cornea of the eye. In such case patients develop so called Kayser-Fleischer rings, dark rings that seem to encircle the iris of the eye. And finally, several more health problems associated with Wilson's disease include anemia, kidney damage, heart problems, pancreatitis and premature osteoporosis.
Wilson's Disease Diagnosis and Treatment
Patients undergo thorough physical and neurological examination. They also have their ceruloplasmin levels in the blood measured. Ceruloplasmin is a protein which binds copper and its levels are low in case of Wilson's disease. There is also increase of copper in urine. Liver biopsy may show the presence of excess of copper. Finally, if the condition already exists in siblings or parents, it is much easier to set definitive diagnosis.
Excess of copper is removed with penicillamine, a highly potent chelating agent. It binds copper and accelerates its elimination from the body. Another alternative to penicillamine is trientine. In some cases patients may benefit from zinc. Treatment lasts for the rest of patient's life. Initially, it removes copper from the body and later it prevents its excessive build-up.
Additional treatment is necessary for individuals who have already developed some complications of the disease (e.g. liver cirrhosis, neurological problems etc.). Patients must also adopt a new dietary regimen which is based on foods that do not contain too much copper.
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