Sample Essay on Wilson’s Disease

Wilson’s Disease


This disease is also known as hepatolenticular degeneration disease, which can be fatal is not acted upon.  According the revelations from medical research, this disease affects an estimated one person in every thirty thousand people. It develops as a result of copper poisoning of the body cells and organs. According to medical experts, the disease should be contained at an early stage instead of waiting until it reaches a lethal quantity. This disease usually affects organs like the liver and brain. In normal conditions, the body accumulates excess copper than it can actually accommodate, thereby causing an attack on these sensitive body organs. The presence of copper in the brain and liver can cause serious medical conditions that require immediate attention, otherwise lives can be lost. Copper belongs to the category of trace elements that are required by the body in small quantities so as to undertake various biological operations. However, a lot of the element should be released through body cells and organs by excretion.

This is the concept that helps in differentiating normal people from those suffering from Wilson’s disease, since they are usually unable to excrete excess copper compounds from their bodies. As mentioned earlier, this health condition is genetic and is caused by the presence of excess accumulation of copper in the body, which eventually attacks vital organs. The presence of this disease is noticed right from the time that a child is born, and the patient develops uniqueness in terms of physical and psychological behaviors (Sang, Hee, Sun Ho & Dae Ghon, 2013, p. 500). Excess copper in the body makes the conditions of the body to worsen, and mostly ends in death if not attended to. The symptoms of this condition are evident in the liver right from the time that one is born, however, it is more pronounced during adolescence. At this stage, excess copper in the body begins to acquire a new state and consequently generates adverse effects on the liver. The condition of the liver is only visible through microscopes and upon testing its physical states are determined based on the condition.

Causes and Inheritance of Wilson’s Disease

The cause of Wilson’s disease is directly linked to the failure of a certain gene that is found in the chromosome. The failure of gene 13 is what results into the severe symptoms that later turn into Wilson’s disease. The gene is commonly known as ATP7B, and primarily meant to control the copper levels in body organs. In the event that the gene fails to function as required, the liver is among the first organs to be adversely affected. As a result of this, there is a low volume of copper excreted, thereby leading to accumulation of bile within the bile glands that are found in the liver. This may end up in death. The excess bile that has high levels of copper piles up in the liver, and the compounds of copper seep outside the liver into the bloodstream and finally the brain. Once the copper elements get into the brain, the condition of the body deteriorates. Based on the poisonous nature of these compounds they usually pose great danger to the body organs.

This disease is inherited depending on the gene composition and alignment. The condition is a case of autosomal recessive disorder. This term is related to gene alignments behind its inheritance. For example, a person develops Wilson’s disease upon inheritance of the two abnormal ATP7B genes in the body. This pair of abnormal genes originates from both parents; father and mother (Tamura, Sugawara, Kishi, Hamamatsu, Kaneko & Makuuchi, 2005, 485). The simplest explanation of the occurrence of this disease can best be shown through a diagram. Based on the diagram of this gene, both parents must be carriers of the Wilson’s disease and the gene combination must be that the pair of abnormal genes constitutes the gene composition of the child.


The inheritance of a single abnormal gene by an individual makes him or her become a carrier. Carriers do not have the disease since one of their genes has the ability of controlling the function of copper within the organs. However, two carriers have higher chances of passing on the disorder to their offspring. These cases are established by chance and only take place in special circumstances. According to statistics on the review of the inheritance of Wilson’s disease, there is one case of the disorder in every 100 people. Looking at the cases whereby two people bearing abnormal genes have a child, certain conditions are impacted.

Image 2The first case according to the Wilson’s inheritance probability diagram is that there is one out of four chances that the offspring will have the condition. This is an implication that the child inherits the two abnormal genes from the mother and father. This results into the development of the disorder that can eventually be fatal. The second case involves the inheritance of just one abnormal ATP7B genes from both parents. The probability gene diagram indicates that only two chances out of four are available for this disorder to occur. The inheritance of a single gene from the parents is an implication that the child is a carrier and may not necessarily suffer from Wilson’s disease.

The other case is whereby the child has neither the disorder nor a carrier. This means that the child born will not suffer the defect of his or her parents. This rarely occurs since it amounts to only one of the possible four chances. In this case, the offspring inherits normal genes, hence, is free from the condition. The discussion of the occurrence of the mapping and implications on the child is basically behind all the diseases that are genetically induced.

Symptoms of Wilson’s Disease

The symptoms of this disorder can be experienced as early as six years in some people and also as later in life as forty years old. However, there are certain cases whereby the symptoms show in adolescence. Despite all these, Wilson’s disease is inherent in an individual right from birth. The symptoms vary depending on the target organs that are attacked, and the stages of development. The first category of symptoms is impacted by liver attack. The liver starts to develop problems once excess bile is accumulated in the liver. The toxic elements of copper deposited on the liver makes the organ to begin swelling. This condition is usually called hepatitis or simply liver inflammation. Hepatitis is a mild condition, but can adversely incapacitate parts of the body. For instance, existence of hepatitis may result into adverse conditions like jaundice, vomiting and severe abdominal pain. If this condition persists in the liver, it can cause other consequences like liver cells damage called cirrhosis (Brewer, 2005, p. 187). These problems can further impact fatal situations, and usually result into liver failure.

There is also another problem that is caused by severe case of excessive concentration of bile in the liver. With the restricted control of copper in the form of bile, the elements are absorbed into the bloodstream where they accumulate and end up in the brain. The presence of bile in the brain can generate adverse results that may cause physical imparities. For instance, the victim may experience tremor in the arms, general slowdown in speech, difficulty in swallowing food and in extreme cases lack of saliva. Other symptoms of presence of bile in the brain include unsteady walk, seizures and problems in writing.

These physical problems can torment the patient psychologically and even end up in psychological trauma. Some of the signs of psychological syndromes include depression, mood swings and inability of the individual to concentrate on his or her endeavors. Such symptoms make the person to become argumentative and at times even develop strong emotional reactions and vulnerability to anger. Poor state of self control is among the justifications of Wilson’s disorder in the later stages. At this stage, the high concentration of bile in the brain may cause severe conditions if not addressed on time. For instance, persistent accumulation of copper elements in the brain may become a chronic condition causing severe weakness of the muscles, development of dementia, and undue rigidity in the body organs and even joints.

Besides, copper build up in the liver may also be translated to other organs in the body. For instance, excessive concentration of copper in the eyes can lead to severity in the cornea and characteristic feature usually known as Kayser-Fleischer rings (Svetel, Pekmezovic, Petrovic, Tomic, Kresojevic, Jesic & Kostic, 2009, p. 855). This can be portrayed by the development of a brownish pigment in the cornea. Secondary impacts of the accumulation of excess copper is not limited to just the above symptoms but also extends to other body problems like pancreatitis, kidney damage, anemia, development of heart problems, menstruation defects among others such as miscarriages in women.

Diagnosis of Wilson’s Disease

There are various kinds of ways of diagnosing the Wilson’s disorder to make sure that its presence in the body is determined and the quantity ascertained rightfully. This entails the administration of several tests that are varied based on the level of suspicion, and the extent of prevalence. The first test is conducted through blood tests to measure the element known as caeruplasmin. The element is general a protein factor whose role is binding of copper within the human bloodstream. The ability of the body to excrete excess copper is determined by the level of caeruplasmin. In normal body conditions, it is ideal that the substance levels remain high. People with lower levels of it highly suffer Wilson’s disease.

The blood tests will help in establishing the quantity of caeruplasmin in the body. This will ascertain whether one has the disorder or not. The test forms part of the most effective way of determining the presence of Wilson’s disease in the body. Through the measurement of the protein that binds copper in the bloodstream, a conclusion is made on the level of the disorder (Da Silva-Junior, Carrasco, Mendes, A Lopes & De Bruin, 2008). Besides, extremely low levels of caeruplasmin are linked to the high rate of copper loss and consequently adverse conditions. Apart from the blood tests, there are several other tests that are also performed to establish the levels of copper within the body. For instance, other tests on kidney and liver function can also be conducted.

These organs are the most vulnerable to Wilson’s disease, and tests done on them can provide their corresponding states. Hepatitis test among other infections can also be conducted to determine whether the organs are affected or safe. In consideration of tests on the kidney, a brief examination provides detailed results on its status in relation to this disorder. The infection equally affects kidneys and they can at times even fail to effectively carry out their functions when attacked by Wilson’s disease.

The other test that can also be done to ascertain whether one has the disorder is urine test. Urine test is among the most viable means of establishing the contents of copper elements in the body. For instance, optimal levels of copper in the urine translate into a high level or abnormal presence of Wilson’s disease. According to the results of the test, low copper levels in urine may give the implication of lots of copper help up in the kidney, something that can cause severe kidney damage.

Besides, high level of copper in the urine may also mean over concentration of copper in the body. This test is conducted on all urine produced by a person in one day. This disorder can be determined by the presence of Kayser-Fleischer rings. Based on this test, the eye cornea is examined by an optometrist or eye specialist. Liver related tests can also be done to ascertain the level of copper and extent of infection. One of those tests is known as biopsy, which entails examination of a liver sample under a microscope. The results obtained from the test will indicate the extent of cirrhosis and copper levels in the liver.

The specialist can also request for other significant tests like MRI scan of the brain and kidney. These tests can compound the extent of damage in tow organs as impacted by Wilson’s disease (Merle, Weiss, Eisenbach, Tuma, S Ferenci & Stremmel, 2010, p.108). MRI scans provide detailed information on the state of the brain, in relation to the consequential impact of copper deposits. Confirmation of the disorder in the body should be complemented by other secondary tests on an individual’s brothers and sisters. Medical research shows that the brothers and sisters of the victim have one out of four chances of having the disease. With such information, the medical practitioners can generalize that the victims must have higher prospects of Wilson’s disorder. Based on this probability cycle, at least one or more of the victim’s brothers are carriers.

Treatment of Wilson’s Disease

This disease adversely affects the brain and liver respectively, thereby calling for an earlier treatment for the mitigation of the impacts. The first set of treatment method is oral ingestion of drugs. Penicillamine is among the drugs that can be used in reducing copper levels in the body. The drug can shoot down levels of copper that are linked to the inability of the liver to control and maintain the body Ph. When this drug is taken, it ensures that excess copper is expelled from the body in the form of urine. The administration of penicillamine can significantly reduce the concentration of copper in the bloodstream. For instance, it is lowered in cases whereby copper build up in the body becomes less. The drug is an essential preventive measure, and its use must be continued for a period of up to one year. Apart from penicillin, copper levels in the body can also be reduced through the administration of Trientine. This drug is a chelating agent that helps in removing excessive concentration of copper from the body (Okada, Shiono, Kaneko, Miwa & Yamagishi, 2010, p. 1238).

Wilson’s disease can be treated in several ways that may also involve the introduction of zinc into the body. The presence of zinc in the body is critical since it aids the blocking of the gut from the absorption of copper that may impact an excess quantity in the body. Zinc plays a preventive role by blocking the gut, thereby hindering future buildup of copper in the body organs. Apart from shielding the gut, zinc has another advantage over Penicillamine and Trientine, in that it shows no side effects after use. Zinc has a mild effect on the body and normally has no negative effects on the usual operations of the body. Ideals of zinc are related to the state of early signs of the disease. The early stages of infection can be prevented by taking of zinc. Other case where zinc intake is also appropriate is whereby the victim was initially treated using Penicillamine or Trientine, and the accumulation of copper in the body has already started going down. Zinc is also ideal for pregnant mothers since it helps in the proper development of the fetus.

Wilson’s disorder is quite hazardous to the normal functioning of the body, and treatment for life is considered the most viable way of wiping out the effects. This process occurs in sequences and starts from the clearance of excess copper in the body before embarking on mechanisms for stopping future accumulation. Preventive measures can eliminate the chances of re-buildup of copper in the body, completely controlling the future occurrence. Other cases of this disorder may end up in death, especially when determined at later stages of the infection. Such adverse conditions or organ damage may at times not respond to treatment through medication. Thus, the ideal treatment is organ transplant which happens in circumstances whereby the organs are completely damaged.

For instance, destruction of the liver requires liver transplant, to serve the purpose of the liver in the human body. However, this method is quite expensive such that many cannot afford it. Another simple means of ensuring that the body retains its stability is intake of adequate diet. The right diet helps the victim to stay safe from food related conditions, which can deteriorate the physical body. The recommended diets should not contain copper rich foods that may elevate the copper levels in the body (Martin, Bartels, Redlich, Hauss & Fangmann, 2008, p. 218). Every effort is aimed at reducing the copper levels in the body, which can be achieved through the consumption of foods with low copper contents. Some of the main foods to be avoided include liver, nuts, chocolate, legumes, mushrooms, shellfish and lobsters. It is essential for the individual to eat appropriate diet and also adopt correct eating habits in order to control the disorder.

In conclusion, Wilson’s disease is a severe condition that requires thorough diagnosis and treatment. If one gets ideal treatment, the effects in the body will be kept low. Early treatments are ideal for controlling the condition and preventing its future occurrence. This concept is the baseline of controlling the disorder.



Brewer, G. J. (2005). Neurologically Presenting Wilson’s disease: Epidemiology, Pathophysiology and Treatment. CNS Drugs, 19(3), 185-192.

Da Silva-Júnior, F. P., Carrasco, A. B., Mendes, A., Lopes, A. T., Souza, M. E., & De Bruin, V. S. (2008). Swallowing dysfunction in Wilson’s disease: a scintigraphic study. Neurogastroenterology & Motility, 20(4), 285-290. doi:10.1111/j.1365-2982.2007.01036.x

Lai, C. H., & Tseng, H. F. (2010).Population-based epidemiologic study of Wilson’s disease in Taiwan. European Journal of Neurology, 17(6), 830-833. doi:10.1111/j.1468-1331.2009.02946.x

Machado, A., Deguti, M., Caixeta, L., Spitz, M., Lucato, L., & Barbosa, E. (2008).Mania as the first manifestation of Wilson’s disease.Bipolar Disorders, 10(3), 447-450. doi:10.1111/j.1399-5618.2007.00531.x

Martin, A. P., Bartels, M., Redlich, J., Hauss, J., & Fangmann, J. (2008).A single-center experience with liver transplantation for Wilson’s disease.Clinical Transplantation, 22(2), 216-221. doi:10.1111/j.1399-0012.2007.00777.x

Merle, U., Weiss, K., Eisenbach, C., Tuma, S., Ferenci, P., & Stremmel, W. (2010). Truncating mutations in the Wilson disease geneATP7B are associated with very low serumceruloplasmin oxidase activity and an early onsetof Wilson disease. BMC Gastroenterology, 108-13.doi:10.1186/1471-230X-10-8

Okada, T., Shiono, Y., Kaneko, Y., Miwa, K., Hasatani, K., Hayashi, Y., & … Yamagishi, M. (2010).High prevalence of fulminant hepatic failure among patients with mutant alleles for truncation of ATP7B in Wilson’s disease.Scandinavian Journal Of Gastroenterology, 45(10), 1232-1237. doi:10.3109/00365521.2010.492527

Sang Youn, L., In Hee, K., Sun Ho, Y., & Dae Ghon, K. (2013). Brief communication: A Case of Colonic Adenocarcinoma in a Patient with Wilson`s Disease. Gut And Liver, 7(4), 500.

Svetel, M. M., Pekmezović, T. T., Petrović, I. I., Tomić, A. A., Kresojević, N. N., Ješić, R. R., & … Kostić, V. S. (2009). Long-term outcome in Serbian patients with Wilson disease.European Journal Of Neurology, 16(7), 852-857. doi:10.1111/j.1468-1331.2009.02607.x

Tamura, S., Sugawara, Y., Kishi, Y., Hamamatsu, N., Kaneko, J., & Makuuchi, M. (2005).Living-related liver transplantation for Wilson’s disease.Clinical Transplantation, 19(4), 483-486. doi:10.1111/j.1399-0012.2005.00371.x

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