Blue Rubber Bleb Nevus Syndrome because of 12 Years of Iron Deficiency Anemia in a Patient by Double Balloon Enteroscopy; A Case Report and Review of Literature

Abstract

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder comprised of venous malformation mostly involving the skin and gastrointestinal (GI) tract but can also involve other visceral organs. The most predominant site of GI tract involvement is the small bowel. In patients with GI lesions, treatment depends on the severity of bleeding, and extent of involvement. Conservative therapy with iron supplementation and blood transfusion is appropriate in cases with mild bleeding but in severe cases endoscopic and surgical interventions would be beneficial. Also, medical therapy with sirolimus significantly reduces bleeding. A 20-year-old woman was referred to our hospital after transfusion of six units of packed cell because of several episodes of lower GI bleeding within the past three months in the form of melena and a single episode of hematochezia. Her last hemoglobin level before admission was 10mg/dl. She underwent various unsuccessful investigations since she was eight years old to find the origin of refractory iron deficiency anemia. In upper endoscopy, five bleeding polypoid lesions were discovered in the jejunum. Lesions were excised by snare polypectomy. Over a six-month follow-up period, no signs of lower GI bleeding were noted and the patient had a normal hemoglobin level.

Successful endoscopic sclerotherapy with bile duct stenting for a vascular malformation neighboring the duodenal papilla in blue rubber bleb nevus syndrome

“…An online search in PubMed of reports published during a period 2015–2021 identified seven cases of endoscopic treatment for duodenal and small intestinal VMs in BRBNS (Table 1). 2,4–9 Of the cases and our present case, five patients were young females, and all the patients presented with symptoms of gastrointestinal bleeding. As for the location of the lesions, the small intestine was the more frequent site than the duodenum.…”

“…VMs of the gastrointestinal tract occur mostly in the small intestine and distal colon 3 . To date, there have been some descriptions of small intestinal VMs in BRBNS, which were treated by endoscopic interventions 2,4–9 . However, there are no reports of BRBNS with endoscopic treatment for VM near the duodenal papilla.…”

Endoscopic and Surgical Management of Blue Rubber Bleb Nevus Syndrome

“…For a primary endoscopic intervention, different techniques have been described in case reports, including the use of a detachable snare, 4 submucosal dissection, 5 sclerotherapy, 6 argon plasma coagulation, 7 and EMR. 8–10 In our experience, the application of multiple techniques including EMR, hybrid ESD, and laparoscopy led to clinical success. Owing to the paucity of cases reported in the literature, the management of these vascular lesions can vary, sparing the patient from multiple surgical resections when possible.…”