Week 2 Assignment: Case Study Analysis
Geneviva Mihnangeh
Walden University
Advanced Pathophysiology
September 7, 2024
Case Study Analysis: 30-Year-Old Male with Abdominal Pain and Mucus in Stool
Presentation of Symptoms
The patient, a 30-year-old male presents with abdominal pain, cramping, and mucus in the stool, which, over the last few weeks, he states have been getting worse. He denies fever but describes increased fatigue and significant weight loss of approximately 10 pounds in the last month. The patient has a family history of Crohn's disease; his brother had this disease. Thus, the symptoms described in the patient give strong suspicion for gastrointestinal disorders due to inflammatory bowel disease (IBD) -for example, Crohn's disease.
Absence of fever and normal levels of B12 suggest that the condition is not because of an acute infection or B12 deficiency anemia, respectively. Nevertheless, the increased erythrocyte sedimentation rate (ESR) indicates inflammation of an important feature of IBD, including Crohn's disease (Kumar et al., 2022; Petagna et al., 2020). Similarly, a negative stool test, to be more specific, one void of pathogens, supports the likelihood of a non-infection inflammatory condition. Plain abdominal X-rays are normal in the majority; the normal plain abdominal X-ray does not rule out IBD since the X-rays may not pick up the subtle mucosal or transmural inflammation typical of Crohn's disease.
Genetic Factors Associated with Disease Development
Crohn's disease is a multifactorial disease that has both genetic and environmental etiologies. The genetic etiology of the disease has identified several genes which confer susceptibility to Crohn's disease. The most studied gene relates to the NOD2 gene, standing for nucleotide-binding oligomerization domain-containing protein 2. Changes in this gene have been strongly associated with an increased risk of developing Crohn's disease. The NOD2 gene is involved in the intestinal immune response against bacterial pathogens (Cirino, 2020; MedlinePlus, 2022). A change within this gene, however, predisposes to the eventual inappropriate response of the immune system and perpetuates chronic inflammation in the gastrointestinal tract.
Other genetic factors include the ATG16L1 and IL23R gene variants, which participate in autophagy or a process of cellular degradation and immune response regulation, respectively (Cirino, 2020; MedlinePlus, 2022). Such genetic changes may result in chronic inflammation and immune dysregulation, as seen in Crohn's disease, hence these are considered major issues in the pathophysiology of the condition.
Immunosuppression and Its Effects on Body Systems
The treatment of Crohn's disease significantly involves immunosuppression, since the disease is mediated through an overly active immune response against the gastrointestinal tract. Therapy using immunosuppressive aims to minimize inflammation by reducing the response of the immune system (Kumar et al., 2022; Petagna et al., 2020). This could, however, be generalized to impose effects within the body systems, thereby increasing the chances of infection, malignancies, and other complications due to reduced potential of the immune system to defend against such pathogens.
Corticosteroids, azathioprine, and biologics, including infliximab, are among the commonly prescribed immunosuppressive medications in the management of Crohn's disease. While these drugs are effective in reducing inflammation, they have some possible side effects, including bone marrow suppression, increased risk for viral and bacterial infections, including fungal ones, and a possible reactivation of latent infections such as tuberculosis. Long-term use of corticosteroids may also be associated with osteoporosis, adrenal insufficiency, and metabolic disorders.
Besides, immunosuppression may render the body incapable of appropriate response to vaccinations and hence vaccinations reviewed- probably updated-before an immunosuppressive treatment is started. Thus, while it is necessary in managing Crohn's disease, immunosuppressive therapy involves close monitoring in a balance between therapeutic benefits and risks of adverse effects to the body systems.
Conclusion
The presentation by the patient, complemented by family history and supported by laboratory findings, strongly supports the likelihood of Crohn's disease as a form of inflammatory bowel disease with genetic predilection. It is expected that knowledge of the genes that can result in disease manifestations will be supportive in effectively managing Crohn's disease, such as NOD2 and eventual immunosuppression, by reducing inflammation but at the same time keeping in check the minimum side effects a medication may result in. Further diagnostic investigation to confirm the diagnosis, including colonoscopy and possibly genetic testing, would be reasonable next steps in guiding treatment.
References
Cirino, E. (2020). Is Crohn’s Disease Genetic? Healthline. https://www.healthline.com/health/crohns-disease/genetic
Kumar, A., Cole, A., Segal, J., Smith, P., & Limdi, J. K. (2022). A review of the therapeutic management of Crohn’s disease. Therapeutic Advances in Gastroenterology, 15(1), 175628482210784. https://doi.org/10.1177/17562848221078456
MedlinePlus. (2022). Crohn’s disease: MedlinePlus Genetics. Medlineplus.gov. https://medlineplus.gov/genetics/condition/crohns-disease/#:~:text=Causes
Petagna, L., Antonelli, A., Ganini, C., Bellato, V., Campanelli, M., Divizia, A., Efrati, C., Franceschilli, M., Guida, A. M., Ingallinella, S., Montagnese, F., Sensi, B., Siragusa, L., & Sica, G. S. (2020). Pathophysiology of Crohn’s disease inflammation and recurrence. Biology Direct, 15(1). https://doi.org/10.1186/s13062-020-00280-5