Obscure gastrointestinal bleeding in the setting of blue rubber bleb nevus syndrome with extensive small bowel involvement.

Abstract

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by multiple vascular malformations of the gastrointestinal (GI) tract, skin and less frequently in solid organs. An 85-year-old male was admitted to the ER due to melena and was under apixaban anticoagulation. Dorsal hemangiomas were identified on physical examination. On admission, he had hemoglobin levels of 7.6g/dl, esophagogastroduodenoscopy was negative and colonoscopy revealed blood clots in all segments, including the terminal ileum. Capsule endoscopy revealed multiple polypoid vinaceous-colored formations in the proximal jejunum and distally active bleeding resulting in limited mucosal observation. The abdominal-CT was normal. Balloon-assisted enteroscopy (BAE) allowed the identification of multiple hemangioma-like purplish blue lesions in the jejunum and ileum without active bleeding. A diagnosis of BRBNS was made based on clinical, imaging and endoscopic findings. Supportive treatment was decided, considering the extent of the lesions and the comorbidities of the patient. Treatment depends on the site, size and number of lesions. Surgical resection is more suitable for limited or life-threatening lesions. Endoscopic treatment with polidocanol, coagulation, band ligation and endoscopic mucosal resection are also available. Sirolimus has been successfully used. However, tolerability and adverse effects limits its use as a rescue therapy.