Management of Hematochezia in Blue Rubber Bleb Nevus Syndrome

Abstract

Intro: Blue Rubber Bleb Nevus syndrome (BRBNS) is a rare disease that is characterized by mucocutaneous venous malformations that most commonly affect the skin and gastrointestinal (GI) tract. We present a case report describing the therapeutic challenges of managing a GI bleed secondary to BRBNS.Figure: Numerous blue rubbery papules located on the patient's a) right thigh b) left thigh and c) right foot.Figure: Smaller blebs scattered throughout the colon.Figure: Colonoscopy showing a large bleb in the ascending colon.Case Report: A 41-year-old female patient with a history of BRBNS presented to our clinic with a complaint of spontaneous rectal bleeding, requiring her to wear a pad everyday for the past 5 months. Physical exam was notable for scattered blue nodules on her thighs and right foot (figure 1). Labs were significant for a hemoglobin of 10.4 g/dL, platelets of 118 K/uL, fibrinogen of < 80 mg/dL. On colonoscopy, a dozen blue rubber blebs were located throughout the colon (figure 2). The most erythematous and prominent bleb, which measured 1.5 cm, was believed to have been the culprit of her recurrent rectal bleeding and anemia, and thus was the target for intervention (figure 3). The lesion was suctioned into the banding apparatus, but the attempt to deploy a band merely resulted in spontaneous albeit self-limited bleeding. While lavaging the decompressed bleb, a second neighboring bleb began to actively bleed. Injection with both 6 cc of epinephrine and 2 mL of butyl-2-cyanoacrylate glue slowed but did not cease the hemorrhage. Band ligation was then employed on this second bleb, and hemostasis was achieved. Because of the risk of underlying DIC, the patient received 10 units of cryoprecipitate. No further bleeding was reported at a ten day follow-up. Discussion: As demonstrated, successful banding may be difficult giving the large size of the blebs. Injecting glue into the bleb did not result in hemostasis, and still required additional banding to stop the active bleed. Although it is not typical, this technique of injecting glue may have helped change the consistency of the lesion, creating solidification and making banding more successful. In patients with chronic DIC, as in our case, periprocedural hematologic support with platelets and cryoprecipitate may help in the setting of active bleeding. Surgery, as well as the use of interferon, octreotide, or sirolimus may be considered in cases of refractory bleeding. Conclusion: Management of BRBNS is challenging because there is no cure or treatment guidelines and experience is limited to case reports. More studies are needed to elucidate the most effective hemostasis strategy for bleeding lesions in BRBNS.