Challenges in Management of Gastrointestinal Bleeding in Blue Rubber Bleb Nevus Syndrome

Introduction: Blue rubber bleb nevus syndrome is an infrequently described condition involving the skin and viscera, including the gastrointestinal (GI) tract, often associated with severe GI bleeding. Case Description: A 29-year-old woman with blue rubber bleb nevus syndrome (BRBNS) was evaluated in the emergency department for recurrence of melena and hematemesis. She was diagnosed with BRBNS at age of 5 years, later becoming transfusion-dependent from recurrent GI bleeding. In prior endoscopies, interventions had included banding, sclerotherapy, APC, bipolar electrocoagulation, epinephrine injection, and placement of endoclips. At 13 years, she suffered from small bowel intussusception, and later suffered from prior compression of the spinal cord from a bleb. She had no significant family history. On examination, the skin of the face, lips, oral mucosa, back of torso, and extremities were covered with multiple characteristic blebs and raised blue-gray lesions. The epigastrium was tender. Labs showed hemoglobin 9.1 g/dL, MCV 76, and platelet count 194,000. Abdominopelvic CT revealed numerous hypoattenuating lesions in the peritoneal cavity, extraperitoneal space, liver, right kidney, and bowels. Upper endoscopy showed non-bleeding, blue-gray raised lesions in the gastric body. Colonoscopy revealed multiple characteristic polypoid blue rubber blebs in the rectum and left colon, without active bleeding. No endoscopic intervention was performed. She presented twice within the next 4 months with recurrent melena, for which colonoscopy again did not identify active bleeding, and the upper endoscopy revealed stigmata of bleeding, for which an endoclip was placed.Figure: EGD (gastric body): multiple raised blebs and endoclips from prior endoscopic intervention.Figure: Lower endoscopy (left colon): multiple raised blebs without active bleeding.Figure: Lower endoscopy (left colon): raised bleb without active bleeding.Discussion: BRBNS is described rarely in the literature and primarily as case reports. Cases of GI involvement most commonly present as GI bleeding, specifically from venous malformations, or as intussusception. Many cases are often described in the pediatric population or relatively young adults. Small bowel involvement is most common, followed by colonic and then gastric mucosa. A variety of endoscopic modalities, including Nd:YAG laser, sclerotherapy, and bipolar electrocoagulation, have been employed, although no specific intervention is defined as most effective towards morbidity and mortality. The role of medical therapy such as sirolimus, steroids, or octreotide is uncertain. Close medical follow-up is very important in such patients since bleeding and severe anemia are recurring problems.