A new approach to blue rubber bleb nevus syndrome: the role of capsule endoscopy and intra-operative enteroscopy

Abstract

Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, even fatal bleeding and anemia. The syndrome is considered to be autosomaly predominantly inherited. Intra-operative enteroscopy (IOE) is the best method of identification of all lesions (particularly the small ones, less than 3 mm) and treatment by endoscopic electro-coagulation or surgical excision. Capsule wireless endoscopy is optimal for screening before the IOE and for monitoring the effect of therapy (in patients with BRBNS). We report two cases of BRBNS. Anemia, gastrointestinal bleeding, gastrointestinal malformations and multifocal venous malformations of the skin were present in both of our cases. Gastrointestinal lesions were identified by gastroscopy, colonoscopy and capsule endoscopy. The multiple venous malformations were treated partly by endoscopic electro-coagulation (lesions up to 4 mm in diameter) and by wedge resection. Both of our patients were 12-year-old girls at the time of operation. In the first patient 31 venous malformations of the small bowel were coagulated, two were resected by the surgeon. In the second patient 20 lesions were coagulated endoscopically and another 31 nevi were resected during an 8 h procedure. The first girl is doing fine 4 years after the procedure, the second was allowed home 2 weeks after the procedure in excellent condition. IOE is a unique method of small bowel investigation and concurrently provides a solution for pathological findings. Capsule endoscopy is a feasible non-invasive screening procedure. We believe that a radical eliminatory approach by means of combined surgery and IOE is indicated for the BRBNS to prevent ongoing gastrointestinal bleeding.

Radical resection of intestinal blue rubber bleb nevus syndrome

“…These are not favorable circumstances under which to perform surgery, but it may be an inevitable choice. Meanwhile, surgical elimination with wedge or segmental resection of the small intestine has safe perioperative outcomes and sustained clinical remission according to recent reports [7,10]. In sum, early surgical intervention may be justified for bleeding GI BRBNS before severe bleeding occurs.…”

2014 Revised Classification of Vascular Lesions from the International Society for the Study of Vascular Anomalies: Radiologic-Pathologic Update

“…These patients frequently have gastrointestinal bleeding due to mucosal lesions of the gut (36). Limited reports have suggested a role for MR imaging in detecting intestinal venous malformations in blue rubber bleb nevus syndrome, although capsule endoscopy is likely a more sensitive method for screening the entire gastrointestinal tract for very small lesions (39,40).…”

Blue rubber bleb nevus syndrome

“…The transmural nature of lesion was reported in partial case reports based on the operation results, which might reveal the infeasibility and high-risk of the endoscopic intervention in partial BRBNS lesions. [ 16 ]…”