S2190 A Rare Presentation of Blue Rubber Bleb Nevus Syndrome in the Elderly

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INTRODUCTION: Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare congenital condition consisting of venous malformations manifesting as blue blanchable rubbery blood filled sacks. BRBNS is often diagnosed in childhood to early adulthood, and can occasionally present with significant blood loss anemia requiring hospitalization and blood product transfusions. In the case below, we discuss a patient with no prior history of anemia who presented with suspected BRBNS associated GI bleeding manifesting in late adulthood. CASE DESCRIPTION/METHODS: 64 y/o female with hypertension and hypothyroidism, who presented to the ER with acute hematemesis, melena, and associated bilateral lower quadrant abdominal pain. The patient does not take any blood thinners nor NSAIDs. The physical exam was significant for epigastric tenderness and bilateral lower extremity pitting edema, but was otherwise largely unremarkable. The patient had no obvious rashes, hemangiomas, petechiae or skin lesions. Initial Hgb was 5.7 gm/dL with MCV 106 Femtoliters, PLTs 188,000 per mc/L. The PT, INR, renal function, and liver function tests were within normal limits. After 3 units of packed RBCs, her Hgb increased to 8.6 gm/dL. CT Abdomen/Pelvis w/ IV contrast: unremarkable. Upper endoscopy: A single vascular gastric abnormality consistent with arteriovascular malformation. Colonoscopy: Multiple venous malformations manifesting as blue blebs along the right-sided colon suggestive of BRBNS. No evidence of fresh or old blood. No biopsies were taken given concerns of possible profuse bleeding. Patient was discharged with outpatient follow up after hemoglobin stabilized. DISCUSSION: BRBNS is an autosomal dominant disease with venous malformations manifesting along the GI tract, skin, liver/spleen, kidneys, brain, retroperitoneum and other organs. The GI tract is the most common location, and often manifests as occult GI bleeding. BRBNS is often diagnosed during endoscopy with its characteristic blue blanching rubbery bleb appearance which distinguishes it from other vascular abnormalities. Biopsies of the blebs can aid in diagnosis. In the limited number of cases documented, the majority have been identified during childhood to early adulthood with rarely any cases presenting in late adulthood. Regardless of advanced age, BRBNS should remain in the differential for unexplained anemia or GI bleed when suspicious vascular lesions are encountered during endoscopy.