Browsing by Author "Martyn, Colin"

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    Cyclical Hematochezia in a 30-Year-Old Female Linked to Endometriosis
    (2021-06-10) Lugo, Adrian; Martyn, Colin; Cho, Isaac S.; Fraser, Scott; Gislason, Gardar
    Clinical manifestations of gastrointestinal (GI) dysfunction are diverse. However, many of these symptoms such as abdominal pain and hematochezia are nonspecific and can be caused by a variety of ailments. As such, it is imperative to develop a broad differential diagnosis including conditions outside of the GI system. In this case report, we demonstrate how endometriosis was inadvertently discovered as the culprit in a patient with abdominal pain and hematochezia. A 30-year-old female with a history of endometriosis, total laparoscopic hysterectomy with left salpingo-oophorectomy, and right salpingectomy presented to the clinic with abdominal pain. It was gradual in onset, occurred 3 to 4 days monthly, and was associated with diarrhea, tenesmus, and mild hematochezia with clots. Alleviating factors included defecation and warmth. No weight loss was noted. Physical exam was significant for right lower quardrant and subprapubic tenderness. A colonoscopy was performed which demonstrated an infiltrative, submucosal, non-bleeding 3 cm mass in the proximal rectum. The terminal ileum and colon were unremarkable. An endoscopic ultrasound with biopsy via fine need aspiration of the mass was then performed. The biopsy demonstrated glands within smooth muscle bundles positive for cytokeratin 7, Ber-EP4, weak to moderate staining of the estrogen receptor, and very weak focal positivity for PAX-8, all of which was most consistent with endometriosis. The patient was subsequently referred to a surgeon for removal of the affected rectum, but she ultimately declined surgery. Her symptoms were mildly controlled with oral contraceptives, but the hematochezia persisted during her menstrual cycles. Patients often present with vague GI symptoms that are manifestations of non-GI processes. This case report demonstrates how an extra-intestinal condition was able to infiltrate through the intestinal wall to cause abdominal pain and hematochezia. We believe the patient’s symptoms stemmed from her endometriosis as she has an intact right ovary and the hematochezia was cyclical in nature. Other investigations have reported multiple segments of the bowel being affected by endometriosis, but the literature is scarce in the standardization of treatment for these cases. This report highlights the importance of potentially resecting bowel segments that are affected by endometriosis as these lesions may cause significant morbidity if the underlying condition is not treated accordingly.
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    The Repercussions of Hereditary Pancreatitis in a 29-Year-Old Male and His Family
    (2020-10-01) Lugo, Adrian; Martyn, Colin; Fraser, Scott; Ahmed, Khan
    The etiology of chronic pancreatitis is multifactorial, but it can frequently be attributed to an inciting factor such as alcohol use, biliary cholelithiasis, or hypertriglyceridemia. In rare cases, inherited mutations in cationic trypsinogen (PRSS1) can lead to hereditary pancreatitis (HP) and increase the risk of pancreatic cancer. In this report, we demonstrate the case of a 29-year-old male with hereditary pancreatitis who inherited a PRSS1 mutation from his mother. A 29-year-old male with a past medical history of hypertriglyceridemia, tobacco use, hypothyroidism, and hereditary pancreatitis presented with epigastric pain and nausea. Liver function tests were unremarkable. Lipase was 760 U/L (range 8-78 U/L). Triglyceride level was 163 (15-150 mg/dL). Computerized tomography imaging of the patient’s abdomen and pelvis from a year prior demonstrated parenchymal calcifications within the pancreas. The patient's symptoms abated within 4 days of aggressive IV fluid resuscitation and supportive care. Regarding his history, at the age of 8, the patient was found to possess a mutated R117H allele in the PRSS1 gene upon PCR analysis of exon 3 from chromosome 7. His mother carried this gene and underwent pancreatectomy for recurrent pancreatitis and numerous pancreatic parenchymal calcifications. In adulthood, the patient has averaged 4 to 5 episodes of pancreatitis annually and has used pancrelipase, indomethacin suppositories and injectable octreotide for symptom control. Of note, the patient’s son did not possess the PRSS1 gene mutation. Mutations in the PRSS1 gene are associated with hereditary pancreatitis due to unrestricted action of trypsin which leads to pancreatic autodigestion. Our patient inherited a mutated PRSS1 allele from his symptomatic mother, but his male offspring did not manifest such symptoms. The literature shows that penetrance of the PRSS1 gene ranges between 40-90%, which implies a high probability of passing these alleles to offspring. More importantly, patients with HP tend to also be carriers of the SPINK1 and CFTR mutations, which are linked to pancreatic cancer and cystic fibrosis, respectively. This case report highlights the importance of genetic testing as mutations can lead to both a perpetual cycle of pancreatitis and increase the risk of developing pancreatic cancer. Proper anticipation can prompt the use of pancreatic enzyme supplementation, octreotide, and indomethacin to help control symptoms and reduce chronicity.
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    A Truth Unraveled: Unpredictable Collagenous Gastritis Explains Vague Upper Abdominal Symptoms
    (2021-06-11) Lugo, Adrian; Cho, Isaac S.; Martyn, Colin; Fraser, Scott; Lynch, Lori; Gislason, Gardar
    Collagenous gastritis (CG) is a rare disease characterized by subepithelial deposition of collagen bands and inflammatory cell infiltrates in the lamina propria. Owing to the rare occurrence, little is known about its clinical manifestations which are both diverse and nonspecific. Furthermore, the pathogenesis of CG remains unclear although there are reported associations with autoimmune conditions including celiac disease and type I diabetes. Currently, there is no effective treatment for this disease. A 64-year-old female with a history of gastroesophageal reflux disease and hypothyroidism presented to the clinic for evaluation of nausea, bilious emesis, early satiety, and an unintentional weight loss of 10 pounds within the past few months. There were no alleviating or aggravating factors and she denied any changes in her bowel function or a familial history of colon cancer. Physical exam demonstrated left lower quadrant fullness. A stool-DNA screening test was negative. Esophagogastroduodenoscopy (EGD) demonstrated a diffusely nodular and congested appearance mainly in the antrum without bleeding, consistent with gastritis. Biopsies were obtained which revealed collagenous gastritis but negative immunoperoxidase staining for lymphoma, Congo red stain for amyloid, and immunohistochemical staining for Helicobacter pylori. A repeat EGD with biopsy demonstrated patchy, mild villous blunting with very few intraepithelial lymphocytes. Antibodies could not be obtained as the patient was lost to follow-up. Patients often present to the clinic with vague gastrointestinal symptoms that warrant endoscopic evaluation. In this case report, we were able to demonstrate the findings of collagenous gastritis, a rare condition that has been reported less than 300 times at the time of this report. This particular case highlights the importance of obtaining the histopathology as it may allow clinicians to rule out reversible causes that may be amenable to treatment prior to making a diagnosis of an untreatable condition such as CG. Furthermore, the second biopsy of our patient suggests that this disease may be linked to celiac disease which is consistent with other reports that suggest CG being related to other autoimmune conditions. Thus, it is of vital importance to create a wider recognition of this condition’s histopathologic features and to examine its clinical associations in order to standardize a more effective therapy for this untreatable disease.