Introduction: Blue Rubber Bleb Nevus Syndrome (BRBNS) also known as Bean Syndrome is a rare disease that is characterized by the appearance of blue compressible venous malformations at cutaneous sites. Extracutaneous sites include the gastrointestinal tract, particularly the small bowel and colon, which present as acute or chronic bleeding. Endoscopic evaluation reveals bluish intestinal nodules with normal mucosal walls. Diagnosis of BRBNS is made clinically by the pathognomonic cutaneous lesions, the endoscopic appearance of gastrointestinal(GI) lesions, and histology showing groups of dilated capillary structures lined by a thin layer of the epidermis.  

 

BRBNS with primary GI tract involvement without cutaneous manifestations, is extremely rare with very few cases reported. A retrospective analysis of 120 BRBNS cases reported manifestation of the disease without skin involvement in 7 % of cases. We present one such case of BRBNS involving the esophagus and colon, without cutaneous manifestation. 

  

Case Report: An 88-year-old gentleman with a past medical history of coronary artery disease on atorvastatin and clopidogrel, atrial fibrillation on warfarin, heart block status post pacemaker, congestive heart failure, hypertension, and diabetes presented to our facility with generalized weakness, near syncopal episodes and an episode of fall secondary to lightheadedness. He had 2- 3 episodes of dark, bloody stool preceding the event. 

 

On presentation, he was hypotensive with a blood pressure 77/34. Hemoglobin was 5.3. PT/ INR of 42.7/ 4.6. Stool for occult blood was positive. He was admitted to the intensive care unit for management of hemorrhagic shock, gastrointestinal bleed, and supratherapeutic INR.  He received 2 units of FFP and 4 units of PRBC with resultant hemodynamic stabilization. He was started on intravenous pantoprazole. 

 

Emergent evaluation with esophagogastroduodenoscopy revealed a few medium-sized blebs in the upper third of the esophagus. The rest of the esophagus, stomach, and duodenum were normal. The colonoscopy showed 2 non-bleeding angio-ectasia in the ileum which was likely the source of bleeding. A mucosal nodule was noted in the recto-sigmoid colon consistent with blue nevus syndrome, which was biopsied and showed diminutive hyperplastic changes.

 

With stabilization with hemoglobin, coumarin was resumed and titrated to target INR. He was followed up in the gastroenterology clinic closely and serial hemoglobin remained stable.  

 

Conclusion: BRBNS might present at birth (30%), infancy (9%) or early childhood (48%). One of the persistent complications of BRBNS is iron deficiency anemias due to chronic bleeding from GI lesions, requiring iron supplements, frequent blood transfusions. Multiple therapeutic modalities are used in the management including antiangiogenic agents such as corticosteroids and interferon-alpha, octreotide, sirolimus, sclerotherapy and aggressive surgery. Our patient serves to highlight the importance of high index of clinical suspicion of BRBNS, even when the presentation is atypical without any cutaneous findings.