Recurrent Gastrointestinal Bleeding From a Rare Source

Abstract

Blue rubber bleb nevus syndrome (BRBNS) is a rare condition that is characterized by multiple vascular malformations that involve mainly skin & gastrointestinal (GI) tract. We report a case of a 33 year-old female with long standing history of BRBNS with persistent iron deficiency anemia and GI bleeding. Case Report: Our patient is a 33 year-old female who was diagnosed with BRBNS as an infant. She has had multiple GI bleeds since childhood. She underwent snare cautery and removal of a large bleb in her colon which then bled leading to immediate surgical resection when she was 14 years old. She continues to have a drop in her hemoglobin and intermittent melena. Her most recent colonoscopy showed a large bleb in the ascending colon & had a capsule endoscopy showing multiple blebs with active bleeding in her distal duodenum. She therefore underwent single balloon enteroscopy, which showed a bleeding 1.5 cm bleb in the distal duodenum. She had clips placed at the base of the bleb and sclerotherapy with sodium tetradecyl sulfate which helped in achieving hemostasis. Despite the extensive treatment she had another episode of bleeding several weeks later and underwent a repeat capsule endoscopy that showed additional blebs in her distal small bowel. She therefore was referred to surgery for possible treatment. Discussion: Since the first described in 1860, about 200 cases of BRBNS have been reported. The etiology of this syndrome is still unknown. Most of the cases are sporadic, although autosomal dominant mode of inheritance has been reported. Clinical manifestations are variable. Skin lesions range from asymptomatic to painful & tender. GI involvement is variable with small intestine involvement 100% of the time. Symptoms include abdominal pain, iron deficiency anemia, intussusception, intestinal infarction, volvulus & overt gastrointestinal bleed. Brain involvement can present with infarction or hemorrhage. Bone & joint involvements are rare & include skeletal bowing & pathological fractures. Lesions in the vertebrae can cause spinal cord compression. Treatment of BRBNS is controversial as it is currently limited to case reports. Conservative treatment such as blood transfusions & iron supplement are recommended for minor or intermittent bleeding. For more severe or recurrent bleeding surgical intervention is required. Surgical intervention ranges from laser photocoagulation, sclerotherapy & band ligation to surgical resection. Pharmacologic agents such as antiangiogenic agents have been used for treatment of BRBNS. Recently, Sirolimus has been reported as an effective treatment in 3 case reports. It has also been reported that using Octreotide subcutaneously could decrease the need for blood transfusions. Our patient is currently undergoing surgical evaluation for further treatment.Figure 1Figure 2Figure 3