A Definition of Wilson’s Disease (Sample Essay)

Wilson’s disease is a genetic disorder in which dangerous levels of copper accumulate in

the body. This disease is named after Samuel A.K. Wilson, a British neurologist who first

described it in 1912. The main characteristic of Wilson’s disease is excess copper, and this

disease mainly affects the liver and basal ganglia in the brain. If Wilson’s disease is not treated,

it is fatal. Statistics show that between 10 and 30 million people develop this disorder worldwide.

It affects men and women equally and is most common among Eastern Europeans and Southern

Italians. Wilson’s disease can be further defined according to its cause, symptoms, and treatment

options.

This disorder is caused by a genetic mutation that is inherited or occurs spontaneously.

This mutation affects the production of the ATP7B protein, which normally helps the liver

excrete excess copper in the bile. If the ATP7B protein does not function properly, copper

accumulates in the liver, which leads to liver damage. The damaged liver eventually releases the

excess copper into the bloodstream, and the blood carries the copper to other organs, for

example, the eyes, brain, and kidneys.

Wilson’s disease is characterized by a variety of symptoms. Initially, the patient suffers

from fatigue, abdominal pain, and an increased tendency to bleed. Later, he develops organ and

blood problems, such as kidney dysfunction, hypoglycemia, anemia, and jaundice, caused by

liver failure. He vomits blood as well. In the later stages of the disease, neurological symptoms

that involve difficulty speaking and problems with movement, are also experienced. The

movement problems are the most common neurological symptoms because copper accumulates

in the basal ganglia, the area of the brain responsible for coordinating movements. These

movement problems include tremors, difficulty moving the arms and legs, dystonia, or twisting
and repetitive movements, and slow or decreased facial expressions. Additionally, in the later

stages of Wilson’s disease, the patient is afflicted with psychological problems, for instance,

irritability, depression, and neurosis. Other later stage symptoms include a Kayser-Fleischer ring,

or a golden-brown coloring around the cornea, kidney malfunction, and osteoporosis. A severe

complication of this genetic disorder is cirrhosis, which is irreversible scarring of the liver.

The patient with this genetic disorder has several treatment options. The goals of the

treatment are to remove the excess copper from the body and prevent further accumulation. One

option is chelation therapy, in which chemicals, such as penicillamine and trientine, are used to

remove the extra minerals from the body. Another option is zinc acetate therapy, which prevents

copper from being absorbed by the stomach and small intestine. Lifestyle changes are

recommended as well. The patient takes copper removal medication for the rest of his life and

changes his eating habits. He avoids tap water, which often contains copper, copper-containing

vitamin supplements, and copper-containing food, for example, nuts, shellfish, and chocolate.

Liver transplant surgery is only performed in severe cases, including liver failure, severe

cirrhosis, and fulminating hepatitis.

In conclusion, Wilson’s disease, a genetic disorder, can be understood in terms of its

cause, symptoms, and treatment options. Wilson’s disease is caused by a genetic mutation

characterized by copper accumulation. The main symptoms are fatigue and abdominal pain.

Other symptoms are neurological, such as problems with movement, and psychological, for

instance, depression. Chelation therapy, zinc acetate therapy, lifestyle changes, as well as liver

transplant surgery are treatment options for this disease.