Pathophysiology Case Study Sample Paper

The presented case study is a 30-year-old Jewish male whose mother has inflammatory bowel disease and now he presents with a 3-month history of abdominal distension & pain, diarrhea, and vomiting. He has lost 30 pounds since then. The past medical and surgical history is unremarkable. Objectively, he is febrile (38.5⁰C) with a distended abdomen and multiple oral ulcers, and diffuse abdominal tenderness. The pathology results on the intestinal endoscopic biopsy revealed a chronic granulomatous inflammatory lesion with a cobblestone appearance and ulcerations. The x-ray of the abdomen shows findings consistent with intestinal obstruction. \

The clinical scenario is most consistent with which disorder?

Crohn’s disease

What data in the clinical scenario supports your diagnosis?

Symptoms: abdominal pain, distension in the albescence of clinically appreciable mass suggests an inflammatory etiology causing the fever, and vomiting, and weight loss. The symptoms have lasted over three months, distinguishing it from acute causes of intestinal obstruction and vomiting.
Aphthous ulcers: oral ulcers with lower gastrointestinal symptoms highly suggests the presence of Crohn’s disease.
The mother had inflammatory bowel disease: there is a familial predisposition in the etiopathogenesis of Crohn’s disease. Inheritance of the disease from the mother is highly likely in this patient.
His race, Jewish: Crohn’s disease is common among the Ashkenazi Jews. This is supported by the genetic component implicated in Crohn’s disease (Rivas et al., 2018). Other social factors are also implicated in the prevalence of Crohn’s disease among the Jews.
Labs: Chronic granulomatous inflammation with cobblestone appearance of intestinal biopsy sample confirms the presence of Crohn’s disease. However, the routine labs for diagnosis of Crohn’s disease such as complete blood count, inflammatory markers, liver function tests, erythrocyte panel, and vitamin B12 assay are not available. Cobblestone appearance in other regions of the GI tract other than the intestines may suggest other different disease entities such as pyloric stenosis in esophageal cobblestone appearance in pyloric stenosis (Łazowska-Przeorek et al., 2017).
Signs of involvement of the entire Gastrointestinal Tract: the presence of oral aphthous ulcers and lower GIT symptoms helps delineate the patient’s condition from Ulcerative Colitis (UC). The mother had inflammatory bowel disease but the type was not specified.

What risk factor(s) led to this person’s diagnosis?

Ethnicity: The Jewish race
Positive family history of IBD, the mother had IBD

Description of the Key Pathophysiologic Concepts

The pathophysiology and pathogenesis of Crohn’s disease have been described by various items of scholarly literature. However, some scientific knowledge gaps still exist in understanding the exact pathophysiology leading to the symptoms (Chen et al., 2019). According to Guan (2019), in-depth understanding the pathogenetic mechanisms is essential in explaining the telltale signs and symptoms in patients with Crohn’s disease. The etiopathogenetic mechanisms can be environmental or genetic in origin. The patient characteristically had a fever, abdominal distension & pain, weight loss, and a positive family history of inflammatory bowel disease.

Genetic Mutation Associated with the Development of this Disorder.

Several genetic mutations have been implicated in the development of Crohn’s disease. The scholarly documented genes include but are not limited to NOD2, IL23R, ATG16L1, and IRGM (Kim & Cheon, 2017). The corresponding normal genes have critical roles in the regulation of inflammation and normal microbial flora of the gastrointestinal tract thereby maintaining unnecessary noninflammatory states of the gut. The Nucleotide oligomerization domain (NOD2) is majorly implicated in the development of Crohn’s disease and is located in chromosome 16 (Kim & Cheon, 2017). Guan (2019) reiterates that mutations in this gene have been associated with the early onset of Crohn’s disease among the Ashkenazi Jews and are responsible for inflammatory regulation. The other mentioned genes regulate the expression of proteins on inflammatory cells both in innate immunity and adaptive immunity, such as toll-like receptors.

Most Common Site Affected by This Disorder

Crohn’s disease can affect the entire alimentary tract but some parts are affected more than others. Unlike ulcerative colitis that mainly affects the colon only, Crohn’s disease affects most commonly the terminal parts of the ileum and the upper parts of the colon (Gade et al., 2020). Unregulated inflammation in these parts causes luminal narrowing leading to obstruction of intestinal contents causing intestinal obstruction. These explain the presence of air-fluid levels seen in the abdominal radiographs and the cobblestone appearance on endoscopy (Seyedian et al., 2019). The occurrence of chronic granulomatous inflammation in the oral cavity causes painful aphthous ulcers (Chams et al., 2019) and presents with other nutritional and functional consequences in other parts of the gastrointestinal tract.

Pathological Process Explaining the Patient’s Weight Loss

Weight loss in Crohn’s disease has been attributed to different structural and functional etiologies, and side effects of medications used to treat the disease. As aforementioned, Crohn’s disease affects the terminal ileum and colon where absorption of nutrients and micronutrients take place (Petagna et al., 2020). In this patient, there is a history of diarrhea and vomiting that usually lead to the nutritional loss. Reduced absorption in the ileum and colon with disrupted mucosa from inflammatory response due to Crohn’s disease is associated with nutritional deficiencies responsible for his weight loss, such as vitamin B12 and amino acids.

Further, being a chronic disease, there is a possibility of cachexia from the inflammatory bowel disease associated with loss of appetite leading to muscle wasting thus weight loss. Therefore, this patient’s weight loss can conclusively be associated with mucosal disruption from inflammation leading to reduced absorption of nutrients, nutritional loss from diarrhea and vomiting, and loss of appetite and body response to chronic disease utilizing a lot of energy.

Actual or Potential Complications Related to the Disease

The patient has developed intestinal obstruction with vomiting and a history of diarrhea. Potential complications that need to be monitored include fluid and electrolyte imbalances due to obstruction & vomiting or diarrhea, and hypoglycemia due to poor feeding in the short-term. Absorption of electrolytes occurs in the colon which in this patient cannot be accessed adequately by gastric and ileal contents due to a potential proximal obstruction (Gade et al., 2020). In the long term without treatment, the patient would be monitored for serious complications such as fistulae formation, including entero-vesical or entero-vaginal fistulae. Ulcerations in the long term may lead to internal bleeding that would result in iron deficiency anemia due to blood loss; otherwise, normochromic normocytic anemia would result due to the chronic disease, or deficiency of vitamin B12. Therefore, hemoglobin levels should be monitored in the patient.

Conclusion

The patient most likely has Crohn’s disease. This is supported by abdominal distension and pain with diarrhea and vomiting for three months. His ethnicity (Jewish) and positive family history place him at the risk of developing the disease. There is a genetic etiopathogenesis to his disease because his mother was diagnosed with an unspecified type of inflammatory bowel disease. Gene mutations such as NOD2 and IL23R are usually implicated in such situations for the development of Crohn’s disease. Crohn’s disease affects every part of the alimentary canal, although the terminal ileum and the colon are the commonly affected regions.

This leads to a reduction in the absorption of essential nutrients resulting in weight loss that was evident in this patient. His weight loss could also be attributed to poor feeding and nutritional loss through vomiting and diarrhea. He is at risk of developing electrolyte imbalance due to reduced absorption and intestinal obstruction. The risk of anemia due to chronic disease, internal bleeding, and reduction in absorption of vitamin B12 is also highly suspected.

References

Chams, S., Badran, R., Sayegh, S. E., Chams, N., Shams, A., & Hajj, H. I. (2019). Inflammatory bowel disease: Looking beyond the tract. International Journal of Immunopathology and Pharmacology, 33, 2058738419866567. https://doi.org/10.1177/2058738419866567
Chen, Y., Wang, Y., & Shen, J. (2019). Role of environmental factors in the pathogenesis of Crohn’s disease: a critical review. International Journal of Colorectal Disease, 34(12), 2023–2034. https://doi.org/10.1007/s00384-019-03441-9
Gade, A. K., Douthit, N. T., & Townsley, E. (2020). Medical management of Crohn’s disease. Cureus, 12(5), e8351. https://doi.org/10.7759/cureus.8351
Guan, Q. (2019). A comprehensive review and update on the pathogenesis of inflammatory bowel disease. Journal of Immunology Research, 2019, 7247238. https://doi.org/10.1155/2019/7247238
Kim, D. H., & Cheon, J. H. (2017). Pathogenesis of inflammatory bowel disease and recent advances in biologic therapies. Immune Network, 17(1), 25–40. https://doi.org/10.4110/in.2017.17.1.25
Łazowska-Przeorek, I., Kąkol, D., Karolewska-Bochenek, K., & Banaszkiewicz, A. (2017). “cobblestone” appearance of esophagus: An unusual symptom of pyloric stenosis. Journal of Pediatric Gastroenterology and Nutrition, 65(5), e110. https://doi.org/10.1097/MPG.0000000000001070
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), 23. https://doi.org/10.1186/s13062-020-00280-5
Rivas, M. A., Avila, B. E., Koskela, J., Huang, H., Stevens, C., Pirinen, M., Haritunians, T., Neale, B. M., Kurki, M., Ganna, A., Graham, D., Glaser, B., Peter, I., Atzmon, G., Barzilai, N., Levine, A. P., Schiff, E., Pontikos, N., Weisburd, B., … Williams, S. M. (2018). Insights into the genetic epidemiology of Crohn’s and rare diseases in the Ashkenazi Jewish population. PLOS Genetics, 14(5), e1007329–. doi:10.1371/journal.pgen.1007329
Seyedian, S. S., Nokhostin, F., & Malamir, M. D. (2019). A review of the diagnosis, prevention, and treatment methods of inflammatory bowel disease. Journal of Medicine and Life, 12(2), 113–122. https://doi.org/10.25122/jml-2018-0075