S4551 A Rare Case of Blue Rubber Bleb Nevus Syndrome With Recurrent Gastrointestinal Bleeding: Importance of Multidisciplinary Management

Introduction: Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare syndrome with ∼200 cases in the literature. It is characterized by numerous venous malformations, most notably the skin and gastrointestinal (GI) tract. It is caused by a sporadic double somatic activating mutation of the TEK receptor, resulting in unregulated angiogenesis. Patients with GI lesions are at risk for bleeding with large lesions rarely causing volvulus and intussusception. We report an unusual case of BRBNS illustrating the importance of multidisciplinary management of GI lesions. Case Description/Methods: A 36-year-old woman with BRBNS complicated by recurrent gastrointestinal bleeding requiring previous small bowel resection presented with several days of fatigue, lightheadedness, dyspnea, abdominal pain, and hematochezia. Her admission hemoglobin of 4.0 g/dL improved to 7.8 g/dL after 2 units of packed red blood cells (pRBC). An upper endoscopy revealed a large circumferential blue rubber bleb in the mid-esophagus, approximately 28 cm from the incisors, and several gastric blebs (3-8 mm). An enteroscopy revealed numerous blebs throughout the duodenum and jejunum (10-20 mm). The colonoscopy showed several blebs in the terminal ileum (20-30 mm) and multiple colonic blebs (10-20 mm). There was no evidence of active or recent bleeding. She received a total of 3 units of pRBC and 3 intravenous iron infusions before discharge with recommendations for continued management with hematology and gastroenterology. Discussion: BRBNS is a rare disorder without well-defined treatment guidelines. Current management is primarily supportive, involving iron supplementation and blood transfusions as needed. Surgical and endoscopic interventions, including application of hemostatic agents, sclerotizing techniques, looping, and banding for active bleeding, have been employed. Sirolimus, or other mTOR inhibitors, may be promising options with studies displaying reduced lesion size and improved hemoglobin levels, but concerns about the side effect profile limit widespread use. BRBNS patients are reported to have average lifespans, often with frequent gastrointestinal bleeding. While our patient required surgery during childhood, she is currently managed by hematology and gastroenterology consultants. Multidisciplinary involvement is needed to coordinate care in an effort to avoid unnecessary invasive procedures. Studies are needed to develop treatments and establish management guidelines.