Blue Rubber Bleb Nevus Syndrome (BRBNS) | Diagnosis & Treatment

How is blue rubber bleb nevus syndrome diagnosed?

Doctors diagnose blue rubber bleb nevus syndrome based on physical examination and medical history. In addition, your doctor might order:

  • fecal occult blood test, to look for signs of gastrointestinal bleeding
  • blood tests to look for signs of anemia
  • gastrointestinal endoscopy to look for and potentially treat blebs within the GI tract
  • magnetic resonance imaging (MRI), x-ray or computed tomography (CT), which can help detect blebs within the body

These tests may involve a number of clinicians from several different medical specialties (e.g., pediatric gastroenterology, pediatric dermatology, pediatric surgery, pediatric radiology).

At Boston Children's, testing and diagnosis of children with blue rubber bleb nevus syndrome is coordinated through the Vascular Anomalies Center. Test results help clinicians and surgeons develop a plan of care and treatment tailored to your child's individual medical needs.

What are the treatment options for blue rubber bleb nevus syndrome?

The treatment of children with blue rubber bleb nevus syndrome (BRBNS) is highly personalized based on the severity of the condition and the problems associated with it. Because the condition can affect so many different parts of the body, children with BRBNS often see clinicians and specialists from several medical fields.

The Vascular Anomalies Center (VAC) at Boston Children's Hospital brings together specialists from across the hospital to take a coordinated approach in caring for children with blue rubber bleb nevus syndrome. Depending on an individual child's needs, this could include:

  • blood transfusions and iron supplementation to treat anemia caused by gastrointestinal bleeding
  • sclerotherapy, where doctors inject a medicine called a sclerosant into an abnormal vessel, causing the vessel to clot and shrink
  • surgery to remove painful skin blebs or gastrointestinal blebs causing significant bleeding

In addition, the Boston Children’s Hospital specialists work closely with local physicians involved with the care of children with BRBNS who live in other states and countries.

Surgical removal of gastrointestinal blebs can be particularly difficult due to the high risk of bleeding. The surgeons and anesthesiologists who work with the VAC are some of the most experienced in the world in venous malformation removal from the skin and intestine.