Altered Physiology

Altered Physiology

The optimal functioning of the human body is attained when the intrinsic network of cells, tissues, organs, and organ systems are functioning properly. Any alteration in this network that impairs the normal functionality of the body is called a disease. These impairments may be localized to a given tissue or may be widespread, covering many tissues and even an entire organ. Usually, these impairments are attributable to a known cause, but in some instances, various factors interplay to cause a disease state. Such factors include but are not limited to the genetic makeup of an individual, environmental factors, age, race, ethnicity, and socioeconomic status, among others. These factors, coupled with the body’s physiology, form the basis for disease diagnosis and treatment. This paper seeks to analyze critically how these factors interplay to cause disease and how they affect the course of management of a particular disease.

The primary diagnosis of the patient is colon adenocarcinoma- a form of cancer that develops within the colon or rectum. The symptoms observed in this patient are attributed to this cancerous growth. The crampy left lower quadrant pain observed is due to the tumor growth. It may be a result of the tumor pressing against the surrounding organs or the abdominal wall. This explains the relief that would be experienced upon resting the bowel. Constipation is another classic symptom that is consistent with colonic cancers. Fever is, however, a non-specific symptom that characterizes most cancers as well as other pathological conditions (Schrijvers et al., 2020). These symptoms are generally indicative of altered physiology, and their identification and analysis enable healthcare providers to link them with a definite pathological condition.

Colon cancer exhibits a huge propensity for genetic susceptibility. Individuals whose kin has or had colon cancer are at higher risk of developing the disease than their counterparts who have no familial history of the disease. Several genes have been implicated in the development of colon cancer. Such genes include APC, catenin-beta 1(CTNNB1A), SMAD4, TP53, KRAS, ERBB2, BRAF, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA), transforming growth factor-beta receptor, AT-rich interactive domain 1A (ARID1A), and epidermal growth factor, among others.

Mutations in these genes promote the acquisition of the hallmark characteristics of cancer in the epithelial cells of the colon. Some of these alterations enhance cancer growth by changing the functions of key signaling pathways that are otherwise involved in normal body physiology. Such mutations include those targeted on the ERBB2 and EGF, which promote tumorigenesis, and Wnt-beta-catenin, which initiates carcinogenesis (Testa, Pelosi, & Castelli, 2018). Mutations seen in colorectal cancer tend to cluster within related groups of genes. The most affected genes are those involved in the signaling pathway, as described above.

Immunosuppression refers to the temporary or permanent induction of dysfunctional states to the immune response. Immunosuppression can be caused by certain pathological conditions, certain pharmacological agents, and some medical procedures. Disease states that can cause immunosuppression include Human Immunodeficiency Virus, cancers, asplenia, and autoimmune disorders such as Crohn’s disease. Certain medical procedures have also been implicated. These include splenectomy, radiation therapy, and bone marrow ablation. Pharmacological agents that cause immunosuppression include chemotherapy drugs such as cyclophosphamide, monoclonal antibodies, and corticosteroids (Manzia et al., 2019). All these factors cause reduced immune functioning thu, making it susceptible to infections.

The process of immunosuppression has been stratified into three phases: induction phase, maintenance phase, and treatment of rejection. The induction phase involves the administration of high-intensity immunosuppressants to eliminate and repress immunocompetent cells. It is initiated when the risk of rejection is at its highest, usually immediately after transplant, and utilizes drugs such as cyclophosphamide, methotrexate, and azathioprine, among others.

The maintenance phase involves continuous administration of drugs to continue repressing the immunocompetent cells and thereby prevent them from mounting an immune attack. It is specifically important in preventing acute and chronic rejections of grafts. Agents used for the maintenance phase include corticosteroids, tacrolimus, sirolimus, and mycophenolate mofetil, among others. The maintenance phase can be continued for a lifetime. However, therapy confers a great risk of infections, and patients should therefore be monitored closely. Treatment of rejection is usually initiated in the event of graft rejection. It involves therapy with high-intensity immunosuppressants similar to the ones utilized in the induction phase—immunosuppression results in low immunity levels. Individuals receiving immunosuppressive therapy are susceptible to infections. Viruses are the most implicated infections. Fungal infections and bacterial infections are also present.

Diseases states affecting the human body are attributed to an alteration in the normal physiological functions of the body. Factors such as genetics, environment, race, and ethnicity have been linked to the development of certain diseases. Diseases display characteristic symptoms that result from the affected organ or tissues. Some diseases lead to a reduction in the immunocompetency of the body. Such diseases include HIV and multiple sclerosis. Drug use and some medical procedures have also been implicated in immunosuppression.

References

Manzia, T. M., Angelico, R., Gazia, C., Lenci, I., Milana, M., Ademoyero, O. T., … Baiocchi, L. (2019). De novo malignancies after liver transplantation: The effect of immunosuppression-personal data and review of the literature. World Journal of Gastroenterology, 25(35), 5356–5375. https://doi.org/10.3748/wjg.v25.i35.5356

Schrijvers, D., Aapro, M., Zakotnik, B., Audisio, R., van Halteren, H., & Hurria, A. (2020). ESMO handbook of cancer in the senior patient. ESMO Handbook of Cancer in the Senior Patient, iii–193. https://doi.org/10.3109/9781841847481

Testa, U., Pelosi, E., & Castelli, G. (2018). Colorectal Cancer: Genetic Abnormalities, Tumor Progression, Tumor Heterogeneity, Clonal Evolution, and Tumor-Initiating Cells. Medical Sciences, 6(2), 31. https://doi.org/10.3390/medsci6020031

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A 65-year-old obese African American male patient presents to his HCP with crampy left lower quadrant pain, constipation, and fevers to 101˚ F. He has had multiple episodes like this one over the past 15 years, and they always responded to bowel rest and oral antibiotics. He has refused to have the recommended colonoscopy even with his history of chronic inflammatory bowel disease (diverticulitis), sedentary lifestyle, and diet lacking in fiber. His paternal grandfather died of colon cancer back in the 1950s as well. He finally underwent a colonoscopy after his acute diverticulitis resolved. A colonoscopy revealed multiple polyps that were retrieved, and the pathology was positive for adenocarcinoma of the colon.

Altered Physiology

An understanding of cells and cell behavior is a critically important component of disease diagnosis and treatment. However, some diseases can be complex, with a variety of factors and circumstances impacting their emergence and severity.

Effective disease analysis often requires an understanding that goes beyond isolated cell behavior. Genes, the environments in which cell processes operate, the impact of patient characteristics, and racial and ethnic variables all can have an important impact.

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An understanding of the signals and symptoms of alterations in cellular processes is a critical step in the diagnosis and treatment of many diseases. For APRNs, this understanding can also help educate patients and guide them through their treatment plans.

In this Assignment, you examine a case study and analyze the symptoms presented. You identify cell, gene, and process elements that may be factors in the diagnosis, and you explain the implications to patient health.
Develop a 1- to 2-page case study analysis in which you:

Explain why you think the patient presented the symptoms described.
Identify the genes that may be associated with the development of the disease.
Please explain the process of immunosuppression and the effect it has on body systems.