P1573 - Blue Rubber Bleb Nevus Syndrome: A Rare Cause of Recurrent Gastrointestinal Bleeding and Chronic Iron-Deficiency Anemia

Colin T. Hartgerink, BS¹, Eman Attir, MD, MPH², Khwaja F. Haq, MD³, Syed-Mohammed Jafri, MD^4
1Wayne State University School of Medicine, Detroit, MI; ²MD Care Center, Chicago, IL; ³Stony Brook University Hospital, Stony Brook, NY; ⁴Henry Ford Health System, Detroit, MI

Introduction: Blue rubber bleb nevus syndrome (BRBNS), also known as Bean syndrome, is a rare congenital disorder characterized by multiple venous malformations affecting primarily the skin, soft tissues, and gastrointestinal (GI) tract, often resulting in recurrent GI bleeding & chronic iron-deficiency anemia.

Case Description/Methods: An 18-year-old woman diagnosed with BRBNS as a child presented to the hospital with melena & severe iron deficiency anemia found to have a hemoglobin level of 6.0 g/dL. She reported undergoing multiple procedures for surgical excision of lesions on her skin & GI tract previously. Review of prior records revealed lesions affecting the GI tract have repeatedly caused severe symptomatic anemia requiring blood transfusions, iron supplementation, and multiple upper endoscopic evaluations. During this presentation, she underwent an urgent upper endoscopy revealing two 8-12 mm oozing polypoid blebs in the gastric body/antrum that appeared to have spontaneously stopped bleeding towards the end of the procedure. Two 6-8 mm non-bleeding polypoid blebs were also seen in the duodenum. After a multidisciplinary discussion with interventional radiology & surgery, decision was made to treat these with sclerotherapy using 1% sodium tetradecyl sulfate. This resulted in hemostasis & discharge with plans for close outpatient follow up. Unfortunately, she was lost to follow up & presented with rebleeding requiring urgent push enteroscopy & colonoscopy revealing multiple non-bleeding blue-tinged blebs in the stomach, duodenum, and proximal jejunum with a relatively unremarkable colonoscopy. She is now scheduled to undergo video capsule endoscopy to evaluate extent of small bowel involvement followed by surgical referral for possible segmental resection to avoid recurrent hospitalizations.

Discussion: The venous malformations present in BRBNS are mature endothelial-lined venous channels with insufficient surrounding smooth muscle. These are present at birth & increase in size with age, causing rubbery lesions on the skin & chronic bleeding from the GI tract. Treatment typically involves a conservative approach with iron supplementation & blood transfusions. Endoscopic interventions such as sclerotherapy & argon plasma coagulation have often been utilized sometimes in combination with immunosuppressants & anti-angiogenic agents such as low dose sirolimus. For severe refractory cases, surgical resection appears to be the last resort to control recurrent bleeding & related complications.


Figure: Blue rubber blebs visualized during upper endoscopy in: a) gastric body b) gastric antrum c) gastric body d) duodenum


Disclosures:
Colin Hartgerink indicated no relevant financial relationships.
Eman Attir indicated no relevant financial relationships.
Khwaja Haq indicated no relevant financial relationships.
Syed-Mohammed Jafri indicated no relevant financial relationships.


Colin T. Hartgerink, BS¹, Eman Attir, MD, MPH², Khwaja F. Haq, MD³, Syed-Mohammed Jafri, MD⁴. P1573 - Blue Rubber Bleb Nevus Syndrome: A Rare Cause of Recurrent Gastrointestinal Bleeding and Chronic Iron-Deficiency Anemia, ACG 2021 Annual Scientific Meeting Abstracts. Las Vegas, Nevada: American College of Gastroenterology.