A rare, unique and often lethal disease affects one in 100,000 people in the world. This genetic mutation causes severe liver and neurological damage to those afflicted. The name of this disease is Wilson’s Disease.
Wilson’s Disease is a mutation that prevents the body from flushing out excess copper. We need very little copper to live a healthy life, too much copper in the body would be toxic to our cells. The liver normally filters out the excess copper through the bile the body produces. In a body affected by Wilson’s the liver does not filter copper correctly which causes it to damage the tissues of the liver, brain, and kidneys. Eventually the copper will build up and become fatal if not treated.
In 1912, a doctor by the name of Dr. Samuel Alexander Kinnier Wilson discovered Wilson’s while investigating possible correlations with patients that had neurological disorders and liver failure. During his research he analyzed 16 different cases that all showed symptoms of the new disease he described, as a "Progressive lenticular degeneration, a familial nervous disease associated with liver cirrhosis"(. The profile of the disease behind all these cases was the same, necrotic damage in the brain and chronic liver damage. He later described the disease ,now known as hepatolenticular degeneration or Wilson’s disease, in his original paper.
The genetic cause for Wilson’s is located on the gene ATP7B which is located on chromosome 13. A child has a 25% chance of inheriting Wilson’s if their parents are both carriers for the mutated gene. If only one parents carries the gene the child will then become a carrier for the disease regardless.
Wilson’s presents many symptoms, both psychiatric and physical. All these symptoms are related to the fact that Wilson’s Disease prevents the body from flushing out copper. Some of the physical symptoms of excess copper in the human body include: yellowing of the skin or eyes, swelling or pain in the abdomen, unusual susceptibility to bleed, vomiting blood, and fatigue. The presence of too much copper in the brain can cause both mental and physical symptoms. The mental symptoms being: depression, anxiety, mood swings, aggressive or inappropriate behaviors, and psychosis. The copper slowly damaging the brain tissue can cause: difficulty speaking or swallowing, tremors, rigid muscles, and problems with balance and walking.
There is no single test to diagnose Wilson’s, instead there are a multitude of tests to perform to be absolutely sure if the common signs are not present. The most common indicator of Wilson’s Disease is the presence of Kayser-Fleischer rings around the iris of a patient’s eye. Once the copper is able to be transferred outside the liver it will travel to the eyes, the copper does not damage the eye but it can be seen as Kayser-Fleischer rings. This is the most common way to diagnose Wilson’s. One of the other ways is to test blood and urine for excess copper in the both of the fluids. A test can also be done where the doctors take a sample of liver tissue and search for the common indicators of Wilson’s. The final test can actually benefit the family of the affected, genetic testing can be performed to see if the mutation is present as well as a search through the family’s history for previous family members that have had or have Wilson’s.
With proper treatment symptoms and effects of Wilson’s can be reduced or even eliminated. If Wilson’s is caught early enough then medications such as zinc acetate,
penicillamine, and trientine can prevent copper build up in the liver but the medication does not cure the disease itself. To stay healthy patients must continue to take the medications listed indefinitely, if they stop taking their medications the symptoms of Wilson’s will quickly reappear. However, if severe liver damage has been dealt then a liver transplant is in order.
The prognosis for Wilson’s greatly depends on when the disease was diagnosed and treated. If caught early and treated people with Wilson’s can live a healthy life with the help of their medication. However, if Wilson’s is left untreated it can lead to severe brain damage, liver failure, and then death.
Wilson’s affects one in 30,000 people to one in 100,000 people worldwide. There is a Slavic type that shows mainly neurological symptoms later in life. Then there is a juvenile type that shows mainly affects the liver and in found in Western Europeans and many other ethnic groups, symptoms of this type start to show before the age of 16.
In conclusion, Wilson’s Disease is extremely fatal if gone untreated but there is treatment and many organizations with the cause to educate others on the dangers of this disease.