Diffuse Intestinal Lipomatosis Presenting as Adult Intussusception

Background: A 25-year old female presented to the Emergency Department with intermittent abdominal pain. Computed tomography imaging demonstrated multiple fat-density tumors in the small intestine and colon associated with two long-segment intussusceptions. Methods: Colonoscopy showed a partially obstructing multilobulated mass in the descending colon; biopsy was non-diagnostic. At exploratory laparotomy, she was found to have hundreds of variable-sized fatty submucosal tumors distributed diffusely throughout the small intestine and colon. Proximal ileal resection and near-total abdominal colectomy with ileorectal anastomosis was performed to remove the heavily diseased and intussuscepted bowel segments. Results: Pathology confirmed the diagnosis of diffuse intestinal lipomatosis, identifying extensive submucosal lipomas in the small and large bowel. The largest lipomas, which had served as intussusception lead points, measured 4 cm in the colon and 6 cm in the ileum. Her post-operative course was uncomplicated and she remains symptom-free at over one year after surgery. Conclusions: Symptomatic diffuse intestinal lipomatosis is a very rare condition with variable presenting symptoms. It is readily diagnosed by cross-sectional imaging and treated by surgical resection of the intestinal segments causing symptoms. The etiology may involve fetal somatic genetic mutations. Long-term risk of malignancy is believed to be low, but optimal follow-up remains undefined.