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Blue rubber bleb nevus syndrome

M M Carr1, C G Jamieson, G Lal

  • 1Department of Surgery, Faculty of Medicine, University of Toronto, Toronto, Ont.

Canadian Journal of Surgery. Journal Canadien De Chirurgie
|February 1, 1996
PubMed
Summary

Blue rubber bleb nevus syndrome, a rare disorder causing anemia, uniquely presented with a congenital heart defect. Surgical removal of intestinal hemangiomas resolved anemia, highlighting a crucial treatment approach.

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Area of Science:

  • Vascular Anomalies
  • Gastroenterology
  • Cardiology

Background:

  • Blue rubber bleb nevus syndrome is a rare genetic disorder characterized by multiple venous malformations (hemangiomas) in the skin and gastrointestinal tract.
  • Gastrointestinal bleeding from these hemangiomas is a common complication, often leading to iron-deficiency anemia.
  • The association with congenital cardiac malformations is exceptionally rare.

Observation:

  • A 26-year-old woman with a known history of blue rubber bleb nevus syndrome and tetralogy of Fallot presented with severe iron-deficiency anemia.
  • The anemia developed postpartum, coinciding with the birth of her first child.
  • Endoscopic evaluation revealed new intestinal hemangiomas, indicating disease progression.

Findings:

  • Multiple new intestinal hemangiomas were identified during endoscopy.
  • Surgical intervention via enterotomies to remove the hemangiomas was performed.
  • Following the surgical removal and iron therapy, the patient's anemia resolved completely.

Implications:

  • This case highlights the importance of considering and managing gastrointestinal hemangiomas in patients with blue rubber bleb nevus syndrome, even in the presence of other significant comorbidities like congenital heart disease.
  • Prompt diagnosis and surgical management of symptomatic intestinal hemangiomas can effectively treat anemia and improve patient outcomes.
  • Further research into the potential link between blue rubber bleb nevus syndrome and congenital cardiac anomalies may be warranted.

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