Blue Rubber Bleb Nevus Syndrome

In Brief Objective: We report the largest clinical experience to date of surgically treated patients with blue rubber bleb nevus syndrome (BRBNS). Summary Background Data: BRBNS is a rare congenital disorder presenting with multifocal venous malformations of the skin, soft tissues, and gastrointestinal (GI) tract. Patients with BRBNS develop anemia from chronic GI bleeding, and require lifelong treatment with iron and blood transfusions. An aggressive surgical approach to treat the GI venous malformations of BRBNS has been considered unlikely to be successful because of the large number of lesions, their position throughout the GI tract, and the likelihood of recurrence. Based on our belief that eradicated lesions would not recur, we undertook the removal of all GI tract lesions in an effort to eliminate bleeding. Methods: Ten patients with BRBNS were treated from 1993 to 2002. Lesions were identified using complete GI endoscopy. The multiple venous malformations were removed by a combination of wedge resection, polypectomy, suture-ligation, segmental bowel resection, and band ligation. Results: Patient ages ranged from 2 to 36 years, and patients received an average of 53 prior blood transfusions. A mean of 137 focal GI venous malformations per patient were resected at operation (range 4–557), with a mean operative duration of 14 hours (range 7–23 hours). Only 1 patient who had a less extensive procedure developed recurrent GI bleeding. The mean follow-up period was 5.0 years (range 2.9–10.3 years). Conclusions: We believe that an aggressive excisional approach is indicated for the venous anomalies that cause GI bleeding in BRBNS. Surgical treatment of gastrointestinal venous malformations in blue rubber bleb nevus syndrome has not been considered feasible because of the large number of lesions and concern for recurrence. Based on our belief that eradicated lesions would not recur, we sought to eliminate bleeding by removal of all gastrointestinal tract lesions.