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Wilson Disease Essay

1747 words - 7 pages

A patient presented with symptoms that suggested she might be schizophrenic. With many conditions mimicking schizophrenia, the doctor reviewed the notes from the family and noticed the patient had missed an eye doctor appointment. The physician, very aware an exam could confirm or refute a diagnosis, requested an eye examination be performed. Kayser-Fleischer rings were present in the cornea of her eyes. These rings are deposits of copper and sulfur granules and are greenish-gold in color. They are not always present; however, when they are, they are a classic identifier of Wilson disease. (Holtz, 2006, pp.108-109) Therefore, the eye exam confirmed a diagnosis of Wilson disease for this patient.
While working in England during the early 1900’s, Alexander Kinnear Wilson, an American neurologist, described the disease. (Schilsky & Brewer, 2009) As with many things, because he was the one who originally described it, it is named after him. Wilson disease is also referred to as hepatolenticular degeneration. (Mayo Clinic, 2009).
It is a genetic, chronic disease that stores up excess copper in the liver. Accumulation of excess copper begins at birth. (Children’s Hospital of Pittsburg, 2010)
Copper is an essential trace metal vital to human health, requiring a small, regular intake to maintain homeostatis. According to Copperinfo (2011), “At least 20 enzymes contain copper and at least 10 of these require copper to function.” The brain, the skin, the heart and the immune system all need copper. Ingested copper is absorbed in the stomach and small intestine. From there, it enters the bloodstream, making its way to the liver. (Copperinfo, 2011)
A healthy liver serves as a filter. Part of its functionality is metabolizing carbohydrates, fats, and proteins. This metabolism leads to the removal of toxins from the blood. The waste is eliminated from the body through urine or bile. (Worman, 2006, pp. 4-5)
For a Wilson’s patient, over time, excess copper in the liver seeps into the bloodstream, affecting other organs and possibly damaging the brain, eyes, and central nervous system. (Children’s Hospital of Pittsburg, 2010)
In some patients, symptoms are only psychiatric, while in others, they are solely neurological. Sometimes the patient will exhibit both psychiatric and neurological symptoms. Liver disease accounts for about 40 percent of Wilson disease patients. (Medici & Rossaro, 2006) Wilson disease does not play favorites. It affects about 1 in 30,000 of the world’s population, and includes several different ethnic groups. (Tavill, n.d.) Dr. Rahil Shah (2011) notes that, “In the United States, the carrier frequency is 1 per 90 individuals.” In children and teens 10-13 years old, Wilson disease is evident as liver disease. In young adults 19-20 years old, it appears as a neuropsychiatric illness. The disease rarely affects children younger than five. Yet it has been noted that the disease has been discovered in toddlers as young as three and in...

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