Wilson Disease - Essay Sample

Introduction

Wilson's disease refers to the autosomal recessive condition that occurs as a result of the mutation in the ATP7B (Wilson disease proteins gene). The infected people must always inherit the affected form or the copy of the genes from both parents. Diagnosing Wilson's condition may sometimes prove to be complex or difficult as a result of the combination of blood tests, liver biopsy, as well as urine tests. The genetic testing is usually used to test or screen family members of the individuals affected. Wilson's disease is a sporadic, inherited disorder that enhances the accumulation of copper in the brain, liver, and other important organs (European Association for the Study of the Liver, 2012). Some of the liver-related symptoms include weaknesses, vomiting, the build-up of fluid within the abdomen, yellowish skin, swelling legs as well as itchiness in the skin, and other internal organs of the body. Some of the brain-related symptoms include muscle stiffness, tremors, personality changes, trouble speaking, anxiety, and perceiving and hearing things that cannot be heard by others. Wilson disease is normally deadly if not recognized and treated early (European Association for the Study of the Liver, 2012). The paper discusses different aspects of Wilson's disease, the symptoms, diagnosis, impacts of the disease to individual treatment processes, and the outcomes of medications to the affected individuals.

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Symptoms

The symptoms of Wilson's disease can mainly be observed in the major organs that are impacted by the accumulation of the copper. The symptoms brought about by the liver are different from those brought about by the brain (Kerkar & Roberts, 2019). Consequently, neuropsychiatric symptoms and liver diseases are some of the main characteristics and features that enhance the process of diagnosis. Individuals with liver problems often tend to seek medical attention earlier, as teenagers or as children compared to people with psychiatric and neurological symptoms.

Some of Wilson's disease symptoms brought about by the liver infections include increased bleeding tendency tiredness, confusion resulting from the hepatic encephalopathy as well as portal hypertension. Enlargement of the spleen and the bleeding of the vessels in the esophagus are also some of the life-threatening symptoms brought about by the liver problems (European Association for the Study of the Liver, 2012). Additionally, accrual of fluid in the abdominal cavity may also be the symptom of Wilson's disease. In the process of diagnosis, some of the symptoms may be the spider angiomata as well as chronic liver diseases. Acute liver failure, liver cirrhosis, liver cancer, and abnormalities in protein production are also some of the symptoms of Wilson's disease brought about by liver infections (European Association for the Study of the Liver, 2012).

Close to half of the people suffering from Wilson's disease possess psychiatric or neurological symptoms (In Weiss & In Schilsky, 2018). At the initial stages of infections, some patients have clumsiness and mild cognitive deterioration. Also, there are always changes in the behaviors. Migraine and seizes frequently appear to be more common among the people suffering from Wilson's disease (In Weiss & In Schilsky, 2018). The cognition may be affected by Wilson's disease. For some people suffering from Wilson's disease, some observable symptoms may be subcortical dementia and weaknesses in cognitive behaviors.

Physical Findings

From the examination of the symptoms, there are physical characteristics that are associated with Wilson's disease. First, due to neurological infections, Wilson's disease often leads to general physical weaknesses that may encompass loss of memory and mental disabilities (In Weiss & In Schilsky, 2018). Occupational and physiotherapy are some of the beneficial treatments for the people with the neurologic form of Wilson's disease. In other words, copper chelating treatment can take up to six months to become effective. The above therapies can aid in coping with dystonia, ataxia, and tremors. Wilson's disease can prevent the physical development of the contractures that can lead to dystonia.

Past Pertinent Medical History

Wilson's disease is dependent on family medical history. In most cases, individuals who possess Wilson's disease inherit it from some family members. The history of Wilson's disease relies on the microcosm of the history of neurology, starting with the seminal and clinical observations (In Weiss & In Schilsky, 2018). The history of Wilson's disease also depends on the pioneering of the copper deficiencies from the sheep to human treatments. The history also depends on the continuation in the causative in the gene mutation (In Weiss & In Schilsky, 2018). Going by the treatment of the neurodegenerative diseases, the treatments of Wilson's disease is possible through the historical patient's management approaches. Despite its long history, Wilson's disease remains to be an important disease that is often misdiagnosed. Historically, misdiagnosis, as well as the delay in the treatment processes, are clinically relevant because, if the disease is left untreated, it can worsen and lead to the hepatic failure as well as the severe neurologic activity and even death (In Weiss & In Schilsky, 2018). The medical history of Wilson's disease reveals that if the diagnosis is done earlier and the treatment administered, the individuals may have a normal life span. Even though some family members may not be affected by the disease, they may act as careers to other generations.

Pathophysiology of the Disease

In the physiological function of the body, copper is an important cofactor for different proteins and enzymes; also, it plays the roles in the mobilization of the iron stores in the tissues (In Weiss & In Schilsky, 2018). The transportation of copper from the hepatocytes to the bile is important in the overall copper homeostasis. The protein, ATP7B, is essential in the creation of vesicular pathways of the hepatic copper transport to bile (In Weiss & In Schilsky, 2018). The WD gene mutation takes place at chromosome 13, as well as the homozygous forms leads to the nonappearance or the reduced function of the protein, ATP7B, the process which leads to the reduction in the biliary copper excretion and eventually the hepatic accumulation of copper (In Weiss & In Schilsky, 2018). With the failure in the biliary excretion, there is always the reduction in the incorporation of copper into the ceruloplasmin. Ceruloplasmin refers to the serum glycoprotein that consists of six major copper atoms for each molecule, and it is frequently synthesized predominantly within the liver (Kerkar & Roberts, 2019). The incorporation of copper into the apoceruloplasmin depends on the availability and concentration of ATP7B (Kerkar & Roberts, 2019). In most cases, the above process is diminished or absent in most patients suffering from Wilson's disease; the process further leads to the reduction in the circulation of serum ceruloplasmin in most patients.

Diagnostic Exams

The diagnostic exams for Wilson's disease can sometimes be very challenging because its symptoms and signs are usually hard to tell or to predict especially from other liver disorders such as hepatitis (Kerkar & Roberts, 2019). On the other hand, the symptoms can undergo evolution over time. Additionally, the behavioral changes that appear gradually may become very difficult to link to Wilson's disease. In most cases, doctors or medical professionals depend on the combination of symptoms and the results of the tests to examine Wilson's disease (Kerkar & Roberts, 2019). While carrying out the diagnostic examination, urine and blood tests normally become predominant. The blood tests can monitor the operation of the liver as well as check the level of proteins that binds copper elements in the blood as well as the level of copper in the blood. During the urine examination, the doctors also measure the amount of copper contained or secreted in the urine within twenty-four hours. Biopsy (removing the sample of liver tissues for testing) is another examination approach of diagnosing Wilson's disease. The process of biopsy, the doctor, often inserts a thin needle through the skin and into the liver to draw the tiny samples of tissues. In the laboratory, the samples drawn from the liver are usually tested for excess copper (Kerkar & Roberts, 2019). While diagnosing Wilson's disease, genetic testing is another essential approach that is usually taken by doctors. In most cases, the blood tests can reveal the genetic mutations that may cause Wilson's disease (Kerkar & Roberts, 2019). Knowing the types of mutations in the protein of family members can enable doctors to begin the treatment earlier before the symptoms arise.

Treatment Modalities

In the process of treating Wilson's disease, the doctors might recommend called chelating agents. These medication agents usually aid in the binding of copper and then stimulates the organs to release copper into the bloodstream (Kerkar & Roberts, 2019). The copper elements are then filtered by the kidneys and then released through the urine (Kerkar & Roberts, 2019). The process of treatment concentrates on preventing the build-ups of copper. In case there is severe liver damage, the liver transplant might be deemed necessary. Trientine is another medication that can be used in the treatment of Wilson's disease; it works just like penicillamine but leads to fewer side effects. Zinc acetate is another medication that delays the absorption of copper from the food materials that enter the body (Kerkar & Roberts, 2019). In the process of treatment, Zinc acetate is typically used as the maintenance therapy to reduce the build-up of copper the Trientine or penicillamine is administered (In Weiss & In Schilsky, 2018). In some cases, Zinc acetate can be used as the primary therapy if the affected individuals cannot take Trientine or the penicillamine. To some individuals, Zinc acetate can lead to stomach ache.

In case there is severe liver damage caused by Wilson's disease, one might need a liver transplant; in the process, the surgeon often removes the affected liver and replace them with the healthy liver from another person (Kerkar & Roberts, 2019). The transplanted livers usually come from the donors who have died. However, in some cases, a healthy liver might be obtained from living donors such as family members.

Patient Outcome

The outcomes in the treatment of Wilson's disease may become successful, or in some cases, the entire process may fail. The success of the treatment process depends on the severity of the infections and surgical procedures that are employed (In Weiss & In Schilsky, 2018). When the diagnosis is done earlier, the outcome of both the surgical and medical treatment might become successful. Additionally, the success in the treatment depends on the approaches taken specifically during the surgical processes (In Weiss & In Schilsky, 2018). When there is a successful outcome in the process of treatment, there is a need for the doctor to recommend some medications that will enhance the recovery process. In other words, doctors should consider prescribing medications that reduce excess copper intake.

Pre-Hospital Care

Before seeking medication and surgical treatments, there is the need to undertake the Prehospital care that aims at reducing the severity of the conditions or symptoms brought by Wilson's disease. There is always the need to reduce the copper in taking; this is possible through the reduction in the intake of foods that are rich in copper. Also, there is a need for therapeutic interventions that can help in the earlier d...