Solitary Peutz-Jeghers Type Hamartomatous Polyp Resulting in Gastrointestinal Hemorrhage

Abstract

Gastrointestinal hamartomatous polyps usually occur as a part of Peutz-Jeghers Syndrome (PJS). Several case reports describe isolated hamartomatous polyps in the GI tract without other evidence of PJS. These are usually diagnosed as solitary Peutz-Jeghers (PJ) type hamartomatous polyps, and as such, they are asymptomatic in most cases, but can present as intestinal obstruction/intussusception, vague abdominal pain, or GI bleeding. We are reporting initial presentation of an isolated hamartomatous polyp in the ileum as GI hemorrhage. A 68 year old man with history of CAD, Diabetes, Hypertension and peripheral vascular disease admitted with melena and symptomatic anemia (Hgb=6.4). Upper and lower GI endoscopies were unrevealing. Small bowel capsule endoscopy revealed a polypoid mass in mid-ileum. Spirus assisted deep enteroscopy revealed a large polypoid mass in the proximal ileum. Polyp was multilobulated, friable with a thick stalk. It was resected with saline assisted snare cautery. Histopathology revealed serrated hyperplastic epithelium resting on focally arborizing muscularis mucosa fibers. Though histologically these findings are similar to hyperplastic polyp of the colon, the prominent smooth muscle fibers of the polyp and its location in the small bowel favored a diagnosis of Peutz-Jeghers type hamartomatous polyp. Post procedure patient remained asymptomatic without any further signs or symptoms of GI bleeding. As compared with PJS, PJ-type hamartomatous polyps are generally regarded as a separate entity, diagnosed at a more advanced age, in the absence of mutation of the STK11/LKB-1 gene and without familial history and mucocutaneous pigmentation. PJS is associated with increased risk of GI & extra GI cancers while no such associations with solitary PJ-type polyps have been found so far. However, on careful review of the literature, there have been few case reports of solitary duodenal hamartomatous polyps with associated multiple organ cancers and some authors do recommend a systematic search for STK11/LKB1 gene mutations, even in the absence of clinical diagnostic criteria of PJS.Figure 1Figure 2Figure 3This case emphasizes some of the atypical findings in the small bowel that may result in complications, such as GI bleeding. Specifically, PJ-type polyps that are not commonly expected, but may be found in patients at more advanced age, and could be easily treated with careful deep enteroscopy and polypectomy due to their benign nature.