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Treatment Options and Precautions for Wilson's Disease
If you are suffering from persistent neurological symptoms, you may have Wilson's disease. Treatment options can help you cope with the symptoms, but you should know that it can have side effects that are not easily managed. Besides persistent neurological symptoms, Wilson's disease can also cause kidney problems, abnormal urine amino acids, and personality changes. In some cases, the disease may even lead to a depletion of red blood cells, which can lead to jaundice and anaemia.
Symptoms of Wilson's disease
People with Wilson's disease often develop unusual brown rings around the iris of their eye. These rings are caused by an abnormal build-up of copper in the eye. This condition can also affect the coordination of the eye, lead to speech problems, and even cause mood and behavioural changes. In five to six percent of people with the condition, copper deposits in the eye can cause "Kayser-Fleischer rings" in the eye.
A doctor can diagnose Wilson's disease by looking at your history and overall health. Blood tests will check for abnormal copper levels and liver enzymes. Your doctor may also perform an imaging test to see if you have abnormal fatty liver function. He or she will also perform a 24-hour urine test to determine whether copper levels are elevated or normal. If the copper level is abnormal, a liver biopsy may be needed to determine the cause.
Early treatment can reversibly reverse neurological symptoms and liver damage caused by the disease. Treatment at later stages may only prevent further disease progression, not restore damage. Patients with advanced stages may simply need to learn how to deal with their symptoms. Wilson's disease is hereditary and can run in families. It has previously been misdiagnosed as cerebral atherosclerosis or Parkinson's disease. Treatment options for Wilson's disease neurological symptoms vary widely, and genetic counselling can help in determining if you have the disease.
Diagnosing the disease involves reviewing your history and overall health. A physical exam can reveal the presence of brown Kayser-Fleischer rings, which are a result of copper in the blood. Blood tests can also detect copper levels and possible liver problems. Liver biopsy is another method of detecting abnormal genes. However, the disease is a lifelong condition. It is best to discuss any symptoms with your healthcare provider as early as possible.
Molecular genetics of Wilson’s disease
The Molecular genetics of Wilson's disease can be helpful in diagnosis and prognosis, but is not a screening test. Patients with suspected Wilson disease may have elevated aminotransferases or a borderline reduced level of ceruloplasmin. If they experience extrapyramidal symptoms, abnormal liver tests, or both, they may be true heterozygotes and have only one detectable mutation. Although there is no evidence that these patients have a hereditary disorder, analysis of both parents' DNA may help in differentiation.
ATP7B gene mutations are responsible for the development of Wilson disease. This disease is caused by an abnormal gene product that causes an excess of copper in the body. Copper accumulates in the body due to inadequate transport from the liver, resulting in excessive copper accumulation in the blood. It can also be caused by a malfunction in the ATP7B gene, which controls the movement of copper from the body. Excess copper is excreted through the intestines.
Treatment options for Wilson’s disease
Although there is no cure for Wilson's disease, there are a number of treatments available. Genetic counselling can determine whether you are at risk for this condition. If you have a strong family history of this disorder, you may want to consider genetic testing. You should also get tested if you have any siblings with the disease or if you have distant relatives with neurological or liver symptoms. A liver transplant is one option for treating Wilson's disease.
Diagnosing the condition involves a thorough examination of the overall health and past health. Your doctor may perform a physical exam to evaluate copper levels in the blood. He or she may also perform liver biopsy or take samples of urine. Liver enzymes may also be abnormal and be tested as part of the diagnosis. Genetic testing allows doctors to screen your family members for the disease before your symptoms show up. A genetic test can also be conducted to identify the gene mutations that cause the disease.
Although there is no cure for Wilson's disease, the disease can be controlled by taking some important precautions. They are low intake of copper related food, copper rich diet including shellfish and meat which liver is free of alcohol for long time.