Blue rubber bleb nevus syndrome as an uncommon cause of gastrointestinal overt bleeding: a diagnostic and therapeutic challenge.

A 76-year-old woman on anticoagulation for atrial fibrillation presented with melaena. Her medical history included previous jejunal resection, aortic aneurysm repair, and cervical cancer in remission. Initial upper gastrointestinal endoscopy and complete colonoscopy showed no source of bleeding. Despite discontinuation of anticoagulation, she developed recurrent gastrointestinal bleeding with severe transfusion-dependent anaemia. Capsule endoscopy demonstrated bluish submucosal vascular lesions in the jejunum, suggestive of Blue Rubber Bleb Nevus Syndrome (BRBNS), a diagnosis further supported by dermatological findings. Single-balloon enteroscopy revealed multiple jejunal venous blebs, with no active bleeding, throughout the first 240 cm of examined small bowel. Treatment with somatostatin and sirolimus was started; however, ongoing bleeding and clinical instability prompted an enteroscopy-guided surgical strategy. At laparotomy, multiple subserosal jejunal lesions were identified, corresponding to the endoscopic findings. A 20-cm bleeding jejunal segment was resected, followed by end-to-end anastomosis, with preservation of 250 cm of jejunum. BRBNS, also known as Bean syndrome, is a rare vascular malformation disorder characterised by multiple venous malformations, most commonly affecting the skin and gastrointestinal tract. Gastrointestinal involvement may lead to chronic occult bleeding, recurrent overt haemorrhage, iron-deficiency anaemia, and transfusion dependence. Current evidence is largely limited to case reports and small series, making management challenging. Endoscopic therapy is generally preferred when lesions are accessible, but extensive or multifocal small-bowel disease may limit its effectiveness. Sirolimus has shown promising results as systemic therapy, although its delayed onset of action may be unsuitable in patients with severe ongoing haemorrhage or clinical instability. This case highlights the value of capsule endoscopy and device-assisted enteroscopy not only for diagnosing small-bowel BRBNS, but also for guiding bowel-sparing surgery when endoscopic treatment is insufficient and systemic therapy cannot provide timely haemorrhage control.