Wilson's disease is a copper storage disease. In this disease, copper is stored in the liver resulting in chronic inflammation to the liver and eventually liver failure. Wilson's disease occurs because of a genetic mutation on chromosome number 13. Therefore, there is a familial history of Wilson's disease. It is a widely spread disease with worldwide prevalence for approximately 30 million persons.
As excessive copper is stored within the liver, the enzymes of the liver become abnormal. Thus, through mechanisms that have yet to be determined, the cells within the liver become inflamed. This appears to be predominantly in the mitochondria of the liver cells. Mitochondria are the powerhouse of cells. Mitochondria produce compounds that transport energy throughout the cell itself.
Clinical Presentation
Wilson's disease is essentially a disease in which copper cannot be excreted normally. Thus, copper accumulates throughout patient's life, beginning in childhood.
Copper becomes distributed throughout the body after the liver is saturated. Deposition of copper occurs within the central nervous system. Because of this, neurologic and psychiatric disorders are not uncommon in patients who have reached adulthood.
Deposition of copper in the eyes (cornea) leads to classic green brown ring noted around the cornea. This is called a Kayser-Fleischer ring. This finding on physical exam is diagnostic of Wilson's disease.
Many patients present with elevated liver function tests. Usually, these patients are identified at a young age. Amino transferases are mildly elevated, 2-4 times above normal.
The liver presentation in acute Wilson's disease involves the entire spectrum of all liver disease. That is, acute hepatitis, chronic hepatitis, cirrhosis and fulminant hepatitis.
Further psychiatric changes involved with Wilson's disease include dementia, anxiety, depression, schizophrenia, manic depression, alcoholism, drooling, difficulty speaking and tremor.
Diagnosis of Wilson's Disease
The common diagnostic test for Wilson's disease is the transport protein called ceruloplasmin. This is usually less than 20 mg/dl. It may be falsely low in patients who have acute infection or a malignancy.
Further measurements can support this diagnosis in the form of measurement of copper content of the liver. When a liver biopsy is performed and dried, copper can then be weighed. When it is greater than 250 micrograms of copper per gram of liver tissues, patients are likely to have Wilson's disease.
A 24-hour urine collection can be used for testing the amount of copper that is excreted in the urine. This is also an extremely sensitive test for Wilson's disease. In some cases it may supplant the liver biopsy.
Family
Patients who have Wilson's disease should inform their family members of this diagnosis. First degree relatives can be screened for Wilson's disease after the age of 3 years. These patients should be followed closely.
Management of Wilson's Disease
Patients who are not treated usually have a fatal outcome.
Therapy is directed at chelation therapy. Treatment for Wilson's disease includes D-Penicillamine for the duration of the patient's life. Side effects do occur to D-Penicillamine therapy. These may limit the therapy in which case alternative treatments may be utilized.
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