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INTRODUCTION: Cocaine use is associated with arterial vasoconstriction and enhanced thrombus formation. Rarely, these effects on the intestinal blood supply result in intestinal ischemia. Cocaine-induced ischemic colitis is a relatively poorly-defined variant of this phenomenon, but some studies suggest it may be associated with higher morbidity and mortality than other etiologies. Therefore, timing is critical in both diagnosis and initiating treatments to prevent poor outcomes. We present a case of a middle-aged patient who had an unusual presentation for ischemic colitis due to cocaine abuse. CASE DESCRIPTION/METHODS: A 49-year-old male with a history remarkable only for alcohol and cocaine use disorders presented with a two day history of hematemesis with syncope and severe abdominal pain. Urine drug screen was positive for cocaine on admission, and initial workup with EGD was grossly unremarkable. An abdominal CT scan showed extensive circumferential submucosal fat but without colonic wall thickening or other signs of acute process, and a mesenteric angiography was similarly unrevealing. However, his clinical condition continued to deteriorate over the next 48 hours with worsening abdominal pain, and he began passing large melanic stools with occasional frank red blood. He subsequently became septic; due to concern for ischemic bowel, a colonoscopy was emergently performed. Diffuse severe ischemic changes with deep cratered ulcers in the descending, transverse, and ascending colon were noted. Emergent laparotomy was performed for a near-total colectomy, after which the patient began to stabilize. DISCUSSION: Long-term cocaine abuse is associated with multiple vascular morbidities, including bowel ischemia. Our patient presented in extremis due to bowel ischemia of both SMA and IMA territories requiring intensive care and emergent colectomy. Interestingly, despite the widespread vascular compromise, initial symptoms were nonspecific without blood per rectum and imaging was unremarkable, including CT and angiography. This illustrates the importance of maintaining clinical suspicion and the utility of colonoscopy in diagnosis, as his unusually diffuse disease eventually necessitated a colectomy in this middle-aged man with otherwise unremarkable medical history.

Discussion: The differential diagnosis for poorly-differentiated colonic tumors includes poorly-differentiated adenocarcinoma (PDA), neuroendocrine tumor (NET), MCC, and metastasis. This ambiguity has led to tumor misidentification in up to 66% of MCC cases; however, several key features can distinguish among these carcinomas. MCC displays negative chromogranin and synaptophysin staining, unlike NET. MCC almost invariably has high MSI and is infrequently CK20 and CDX-2 positive, unlike PDA. Clinically, MCC is more likely to present in the eighth decade, in females, and in the right colon than NET or PDA. MCC frequently follows an indolent course with good prognosis, while PDA often grows and spreads aggressively. While this case had a uniquely young age of presentation, it otherwise exhibits known clinical and histological features of MCC. As familiarity with these features rises and the use of MSI testing expands, accurate diagnosis of MCC will likely improve. With the expansion of colon cancer screening, the incidence of MCC is likely to rise, highlighting the importance of timely, accurate diagnosis when facing poorly-differentiated colonic tumors.

Introduction: Ulcerative Colitis (UC) is an inflammatory condition primarily involving the colon but is commonly associated with different extraintestinal manifestations. However, pulmonary manifestations, specifically tracheal involvement, in UC is extremely rare with only a few documented cases in the literature to date. We present a case of pulmonary manifestations of UC presenting as a chronic cough in a patient with UC status post colectomy. Case Description/Methods: A 54-year-old male with a past medical history of GERD, reflux laryngitis, and UC status post total colectomy with J-pouch 10 years prior presented to his primary care provider's office with the complaint of persistent shortness of breath. Associated symptoms included hoarseness and a chronic cough with thick sputum production and chest tightness. On examination, the patient had extensive wheezing and thus was instructed to utilize an albuterol inhaler and was prescribed a 10-day prednisone taper. Following completion of the prescribed regimen, the patient's chest tightness and dyspnea improved but his hoarseness and cough persisted. The patient was therefore started on Fluticasone Furoate-Vilanteril 100-25 mcg/inhalation and sent for chest imaging. CT chest was completed and revealed moderate, concentric thickening of the trachea and walls of the bronchi and bronchioles. There was no evidence of parenchymal disease or serositis, but findings were very suspicious for pulmonary UC involvement (Image 1). Following initiation of Fluticasone Furoate-Vilanteril, the patient did have moderate improvement in symptoms. However, considering the CT imaging findings, the decision was made to increase the dosage to Fluticasone Furoate-Vilanteril 200-25 mcg/inhalation to allow for inflammatory suppression over the course of next couple of months. (Figure ) Discussion: Bronchopulmonary involvement only occurs in 0.21 to 0.4% of all inflammatory bowel disease (IBD) cases, and there are less than 20 documented cases of tracheobronchitis in patients with UC in the literature to date. Few of these cases have occurred in patients whose IBD have been in remission or have undergone total colectomies the year prior. Fortunately, pulmonary involvement in UC responds favorably to corticosteroids often resulting in quick improvement both clinically and radiographically. However, given its manifesting symptoms, patients can be easily misdiagnosed with asthma or COPD if physicians do not have a high index of suspicion.[2758] Figure 1. A-F: Moderate concentric thickening of the wall of the trachea and diffuse thickening of the walls of the bronchi and bronchioles. Overall findings highly suspicious for airway involvement of ulcerative colitis.

INTRODUCTION: Juvenile Polyposis Syndrome (JPS) is characterized by the development of numerous hamartomatous polyps in the GI tract, increasing individuals’ risk of colorectal and gastric cancer by as much as 68% by age 60. These odds are further compounded by the syndrome’s autosomal dominant (AD) mode of inheritance, placing children at a 50% risk of transmission from an affected parent. Bone Morphogenic Protein Receptor type-1A (BMPR1A) genes located on chromosome 10q22-23 are strongly associated with JPS, with nearly 60% of cases testing positive for the mutation. Effects of this anomaly cascade down the transforming growth factor-beta (TGF-beta) pathway, resulting in patients developing tens to hundreds of polyps within their lifetime, often by the first decade. Mutations in SMAD4 proteins can also lead to JPS and Hereditary Hemorrhagic Telangiectasia (HHT) as they are also vital in TGF-beta signaling. JPS is clinically diagnosed by the absence of other hamartomatous polyposis syndromes (eg, Peutz-Jeghers or Cowden) and the presence of either >5 juvenile polyps in the colorectum, multiple juvenile polyps elsewhere in GI tract, or any polyps with a family history of juvenile polyps. CASE DESCRIPTION/METHODS: A 41-year-old female with intermittent IBS symptoms presented for colon cancer screening. Two years earlier, the patient’s mother had been diagnosed at age 64 with multiple juvenile colon polyps and colon cancer testing positive for BMPR1A gene mutation. Patient’s initial colonoscopy revealed multiple 3–4 cm irregularly shaped pedunculated polyps, many less than 1cm and an irregularly shaped mass in the mid-ascending colon. The mass was circumferential, broad-based at 4–5 cm and nearly completely obstructing. Polyps removed revealed tubular adenomas and tubular villous adenomas. Though none of these were documented as juvenile polyps, the patient did test positive for BMPR1A mutation suggestive of JPS. The patient was referred to general surgery for resection of the mass and upper endoscopy. DISCUSSION: JPS is a rare polyposis syndrome with AD inheritance. In at-risk patients, it is imperative that genetic testing be performed to determine appropriate cancer screening. Testing should include both SMAD4 and BMPR1A gene mutations, with positive SMAD4 mutations undergoing evaluation for HHT. Current guidelines recommend screening the stomach and colon early, as the length of time to diagnosis remains the single most influenceable and impacting factor in the outcomes of patients and their families.