A Rare Case of Rectal Carcinoid in a Young Female With SLE

Abstract

Carcinoids slow-growing tumors that originate in cells of the diffuse neuroendocrine system with majority from the midgut. Arising from the enterochromaffin cells and the characteristic feature of converting tryptophan to serotonin and exhibiting signs and symptoms of serotonin syndrome, this tumor is commonly seen in African Americans. Our case is is a young female diagnosed with rectal carcinoid tumor. 28 yo female with a hx of SLE for 3 years presents to the emergency department with complaints of intermittent left sided abdominal discomfort and pain for approximately 3 weeks duration. She characterized the pain dull nagging-like, associated with nausea, no vomiting, no association with sleeping or laying supine, that regressed in 30 minutes. She was discharged after conservative management with PPI and outpatient clinic follow up in 4 weeks. She presented 2 months later with continued abdominal pain now associated with 3 lbs unintentional weight loss, bloating, with diarrhea/ constipation. EGD perfromed revealed minor erythematous mucosa that was negative for h.pylori on biopsy. Colonoscopy revealed a 1 cm soft, submucosal lesion appearing with a yellowish hue just proximal to the dentate line. Biopsies showed a well differentiated neuroendocrine tumor tumor less than 1mm in diameter. IHC staining positive for synaptophysin and KI-67. Patient underwent a endoscopic sub mucosal resection showing a 0.7 cm well-differentiated, neuroendocrine tumor with uninvolved margins.Figure: Normal goblet cells with mucin production when compared with abnormal well differentiated nests of cells.Figure: Abnormal NES cells stained via Synaptophysin, marker for neuroendocrine tumors; Immunohistochemistry.GI Carcinoid tumors arise mainly in 6th decade of life. NANETS guidelines for screening recommends serum serotonin, chromogranin A and urine serotonin and 5- HIAA. No blood tests are of value in detecting NET tumors. Once diagnosed by endoscpy, endoscopic mucosal resection/radical surgery is recommended. Surveillance after intervention depends on staging. In our literature review, there has been only 3 other cases of patient with SLE diagnosed with rectal carcinoid at a young age. Prospective studies are linking auto-immune diseases to early onset of neuroendocrine tumors. Majority of these tumors do not present with symptoms and are found incidentally. It is imperative to diagnose these cases early as risk of metastasis to the liver may occur up to 3 years even after endoscopic removal. There are limited studies and case presentations available to medical population and therefore it is important to be familiar with the the NANETS guidelines for diagnostic and therapeutic intervention.