S6076 Melena and Iron Deficiency Anemia in a Patient With Blue Rubber Bleb Nevus Syndrome: A Rare Cause of Chronic Gastrointestinal Bleeding

Introduction: Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare congenital vascular malformation disorder with an incidence of 1:14,000 and approximately 350 cases reported worldwide. It features multifocal venous malformations of the skin and gastrointestinal tract, leading to chronic blood loss and iron deficiency anemia. Gastrointestinal involvement occurs in up to 75% of patients, but diagnosis is often delayed due to nonspecific symptoms and frequently absent cutaneous findings. Case Description/Methods: A 58-year-old woman with coronary artery disease, atrial fibrillation status post Watchman procedure on clopidogrel, and multiple prior abdominal surgeries presented with 3 years of intermittent melena and fatigue. Laboratory studies revealed hemoglobin 5.7 g/dL, requiring blood transfusion. Esophagogastroduodenoscopy and colonoscopy were unrevealing for a source of bleeding. Video capsule endoscopy identified multiple bluish nodular lesions occupying the proximal 40% of the small intestine, consistent with BRBNS, without active bleeding. No cutaneous lesions were noted. Surgical resection was deemed high risk given her comorbidities; conservative management with oral iron supplementation and hematologic monitoring was recommended. Discussion: This case highlights BRBNS as a cause of obscure GI bleeding and iron deficiency anemia, especially when skin findings are absent. Capsule endoscopy is the most sensitive modality for small‐bowel vascular malformations. Double‐balloon enteroscopy may allow targeted therapy for accessible lesions. Endoscopic options include argon plasma coagulation, snare polypectomy, and sclerotherapy for focal bleeding. Sirolimus has demonstrated efficacy in refractory cases by reducing transfusion requirements and stabilizing hemoglobin. Surgical resection is reserved for localized disease in low‐risk patients but may be contraindicated in those with extensive prior surgeries or diffuse lesions. BRBNS should be included in the differential for unexplained iron deficiency anemia and melena when standard endoscopies are negative. Early diagnosis via capsule endoscopy and a multidisciplinary approach—combining endoscopic therapy, pharmacotherapy (e.g., sirolimus), and supportive iron supplementation—are key to reducing morbidity and transfusion dependence. I used ChatGPT solely for proofreading and spellchecking purposes.

Publication Details

Journal
The American Journal of Gastroenterology
Published
2025-10-01
DOI
https://doi.org/10.14309/01.ajg.0001152764.73542.a8
Primary Topic
Vascular Malformations and Hemangiomas
Type
article
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article

S6076 Melena and Iron Deficiency Anemia in a Patient With Blue Rubber Bleb Nevus Syndrome: A Rare Cause of Chronic Gastrointestinal Bleeding

The American Journal of Gastroenterology
Vascular Malformations and Hemangiomas
article

S6076 Melena and Iron Deficiency Anemia in a Patient With Blue Rubber Bleb Nevus Syndrome: A Rare Cause of Chronic Gastrointestinal Bleeding

article en

Abstract

Introduction: Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare congenital vascular malformation disorder with an incidence of 1:14,000 and approximately 350 cases reported worldwide. It features multifocal venous malformations of the skin and gastrointestinal tract, leading to chronic blood loss and iron deficiency anemia. Gastrointestinal involvement occurs in up to 75% of patients, but diagnosis is often delayed due to nonspecific symptoms and frequently absent cutaneous findings. Case Description/Methods: A 58-year-old woman with coronary artery disease, atrial fibrillation status post Watchman procedure on clopidogrel, and multiple prior abdominal surgeries presented with 3 years of intermittent melena and fatigue. Laboratory studies revealed hemoglobin 5.7 g/dL, requiring blood transfusion. Esophagogastroduodenoscopy and colonoscopy were unrevealing for a source of bleeding. Video capsule endoscopy identified multiple bluish nodular lesions occupying the proximal 40% of the small intestine, consistent with BRBNS, without active bleeding. No cutaneous lesions were noted. Surgical resection was deemed high risk given her comorbidities; conservative management with oral iron supplementation and hematologic monitoring was recommended. Discussion: This case highlights BRBNS as a cause of obscure GI bleeding and iron deficiency anemia, especially when skin findings are absent. Capsule endoscopy is the most sensitive modality for small‐bowel vascular malformations. Double‐balloon enteroscopy may allow targeted therapy for accessible lesions. Endoscopic options include argon plasma coagulation, snare polypectomy, and sclerotherapy for focal bleeding. Sirolimus has demonstrated efficacy in refractory cases by reducing transfusion requirements and stabilizing hemoglobin. Surgical resection is reserved for localized disease in low‐risk patients but may be contraindicated in those with extensive prior surgeries or diffuse lesions. BRBNS should be included in the differential for unexplained iron deficiency anemia and melena when standard endoscopies are negative. Early diagnosis via capsule endoscopy and a multidisciplinary approach—combining endoscopic therapy, pharmacotherapy (e.g., sirolimus), and supportive iron supplementation—are key to reducing morbidity and transfusion dependence. I used ChatGPT solely for proofreading and spellchecking purposes.

The American Journal of GastroenterologyVol. 120(10S2)
Good health and well-being
Openalex Percentile: Top 29%
Vascular Malformations and Hemangiomas
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S6076 Melena and Iron Deficiency Anemia in a Patient With Blue Rubber Bleb Nevus Syndrome: A Rare Cause of Chronic Gastrointestinal Bleeding · The American Journal of Gastroenterology (2025) | TGRS Research Map | TGRS