Recommended Citation
Berber L, Foy O. A Case of Late Onset Blue Rubber Bleb Nevus Syndrome. Presented at Scientific Day; May 21, 2025; Park Ridge, IL.
Abstract
Introduction/Background:
Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital disorder caused by a mutation in the TEK gene, which disrupts normal cellular communication and leads to the development of abnormal blood vessels. The TEK gene expresses a TIE2 tyrosine kinase receptor predominantly present in the vascular endothelium. The TIE2 pathway, activated by angiopoietin 1 and 2, is responsible for angiogenesis and endothelial maintenance. Clinically, patients exhibit distinctive dome-shaped, blister-like lesions known as blebs, characterized by a rubbery texture and blue or purple appearance, that can develop throughout the body.
Description:
85-year-old caucasian female with a past medical history of atrial fibrillation on xarelto, heart failure with preserved ejection fraction (HFpEF), CAD, COPD on home oxygen, CKD3a, and HTN presented with dark stools, abdominal pain, and weakness. CT abdomen and pelvis with contrast showed extravasation in the small bowel, a push enteroscopy revealed several esophageal venous blebs, and capsule endoscopy showed active bleeding in the small bowel. Her hospital course was further complicated by a DVT in the right lower extremity and several pulmonary emboli. Patient was treated with amicar and octreotide. She ultimately required 19 units of packed red blood cells. Double balloon enteroscopy was significant for several nonbleeding venous blebs in the jejunum. Full dose lovenox was resumed to treat her pulmonary embolism and she was bridged to eliquis before discharge.
Discussion:
BRBNS is an exceedingly rare disease with only a few hundred case reports published since 1860. There appears to be an autosomal dominant inheritance pattern linked to chromosome 9, but most cases are sporadic. Symptoms typically present at birth or in early childhood but can present at any time. The classic blue blebs can form in any solid organs, the central nervous system, and anywhere along the GI tract. Systemic therapies such as sirolimus, corticosteroids, IVIG, INF-a, and vincristine have been utilized with reported success as well. However, dosing and duration of treatment have not been extensively studied. Supportive care with iron supplementation is commonplace for these patients. Given our patient's age and comorbidities, she decided to pursue supportive care. Younger, healthier patients would benefit from pharmacotherapy trials with the drugs mentioned above in order to potentially reduce the long-term complications of hospitalizations, blood transfusions, and to avoid bowel resections.
Presentation Notes
Presented at Scientific Day; May 21, 2025; Park Ridge, IL.
Full Text of Presentation
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Document Type
Poster
A Case of Late Onset Blue Rubber Bleb Nevus Syndrome
Introduction/Background:
Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital disorder caused by a mutation in the TEK gene, which disrupts normal cellular communication and leads to the development of abnormal blood vessels. The TEK gene expresses a TIE2 tyrosine kinase receptor predominantly present in the vascular endothelium. The TIE2 pathway, activated by angiopoietin 1 and 2, is responsible for angiogenesis and endothelial maintenance. Clinically, patients exhibit distinctive dome-shaped, blister-like lesions known as blebs, characterized by a rubbery texture and blue or purple appearance, that can develop throughout the body.
Description:
85-year-old caucasian female with a past medical history of atrial fibrillation on xarelto, heart failure with preserved ejection fraction (HFpEF), CAD, COPD on home oxygen, CKD3a, and HTN presented with dark stools, abdominal pain, and weakness. CT abdomen and pelvis with contrast showed extravasation in the small bowel, a push enteroscopy revealed several esophageal venous blebs, and capsule endoscopy showed active bleeding in the small bowel. Her hospital course was further complicated by a DVT in the right lower extremity and several pulmonary emboli. Patient was treated with amicar and octreotide. She ultimately required 19 units of packed red blood cells. Double balloon enteroscopy was significant for several nonbleeding venous blebs in the jejunum. Full dose lovenox was resumed to treat her pulmonary embolism and she was bridged to eliquis before discharge.
Discussion:
BRBNS is an exceedingly rare disease with only a few hundred case reports published since 1860. There appears to be an autosomal dominant inheritance pattern linked to chromosome 9, but most cases are sporadic. Symptoms typically present at birth or in early childhood but can present at any time. The classic blue blebs can form in any solid organs, the central nervous system, and anywhere along the GI tract. Systemic therapies such as sirolimus, corticosteroids, IVIG, INF-a, and vincristine have been utilized with reported success as well. However, dosing and duration of treatment have not been extensively studied. Supportive care with iron supplementation is commonplace for these patients. Given our patient's age and comorbidities, she decided to pursue supportive care. Younger, healthier patients would benefit from pharmacotherapy trials with the drugs mentioned above in order to potentially reduce the long-term complications of hospitalizations, blood transfusions, and to avoid bowel resections.
Affiliations
Advocate Lutheran General Hospital