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Wilson's
disease is an inherited disorder in which excessive amounts of copper
accumulate in the body. This rare disorder affects approximately one
in 30,000 individuals. Wilson's disease is inherited as an autosomal
recessive trait, which means that the affected individual must receive
the abnormal gene for Wilson's disease from both parents. The genetic
defect in Wilson's disease results in failure of the liver to rid the
body of copper. The copper then builds up in the liver, the brain and
other organs. In Wilson's disease, the deposits of copper in the body, begin at birth. The signs that this is happening usually appear between the ages of 6 and 40, but most often during the teenage years. Approximately 40 percent of all patients with Wilson's disease are first seen because they have symptoms of liver disease. Blood tests show an elevation in liver enzymes, and symptoms of acute hepatitis, fulminant hepatitis, chronic hepatitis or cirrhosis, with all of its complications, may be present. Copper
also accumulates in other body organs, particularly the brain, and may
result in difficulty with speech, trembling, writing problems, an unsteady
walk, depression, suicidal impulses, and loss of mental functions. Other
body organs may also be damaged by copper overload. Copper may accumulate
in the cornea of the eye and cause a characteristic brown pigmentation
called Kayser-Fleischer rings. Hemolytic anemia, a low blood count related
to damage of red blood cells, may occur in patients with Wilson's disease.
There may be injury to the kidneys due to copper overload. Finally,
severe bone disease from osteoporosis may occur in patients with Wilson's
disease. The
diagnosis of Wilson's disease can usually be made by a blood test that
finds a decreased copper binding protein in blood called serum ceruloplasmin,
an increase in the excretion of copper in the urine and/or the appearance
of corneal Kayser-Fleischer rings with the aid of a slit lamp examination
performed by an ophthalmologist. If it is not certain what these tests
mean, or if a patient without symptoms has a low amount of ceruloplasmin,
then a liver biopsy may be performed to measure the amount of copper
in the liver. Wilson's disease that is untreated results in increasing damage to the liver and brain. Until the late 1940s, patients typically died before reaching 30 years of age. The treatment improved substantially after the introduction of the copper chelating agent, D-penicillamine. This drug removes excess copper from the body and prevents future accumulation and damage to body organs. D-penicillamine treatment must be continued for life. A small number of patients are unable to tolerate D-penicillamine because of side effects and another chelating agent, trientine may be used. When either chelator is used, pyridoxine (vitamin B6) should be administered. A third drug that is used to treat Wilson's disease is zinc which promotes excretion of copper in the stool and has been shown to be an effective long-term therapy. Some physicians recommend long-term maintenance therapy with either D-penicillamine or trientine, while others believe that patients can be switched to zinc after an initial treatment with one of the above two chelators. Foods
high in copper such as shellfish, nuts, liver, chocolate, and mushrooms
should be avoided. Patients with advanced liver disease who do not respond
to medical therapy should be considered for liver transplantation.
The American Liver Foundation is the only national voluntary health organization dedicated to preventing, treating, and curing hepatitis and all other liver and gallbladder diseases through research and education.
Copyright
© 1995 |
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