What is blue rubber bleb nevus syndrome?

Patients with blue rubber bleb nevus syndrome have dilated clusters of veins on the skin or other internal organs, such as the gastrointestinal (GI) tract. Although “nevus” more commonly refers to pigmented skin nodules (moles), in this situation the skin nodules are swollen veins (blue blood vessels). They are soft and often flatten with pressure, and usually they are not painful, though they can be painful if the blood inside the dilated veins clots. When the GI tract is involved, slow bleeding can occur, resulting in anemia.

What causes blue rubber bleb nevus syndrome?

Blue rubber bleb nevus syndrome is a genetic disorder thought to be due to mutations in the TIE2 gene. This condition can be hereditary, meaning that it can be passed down from generation to generation within families, though that is not always the case. A biopsy of the abnormal veins may be taken to look for a genetic cause, which may help with the treatment plan.

How is blue rubber bleb nevus syndrome diagnosed?

A patient is seen at Children's Hospital of Philadelphia’s (CHOP) Comprehensive Vascular Anomalies Program (CVAP), which includes the multiple specialists needed to diagnose and treat this rare condition. To determine if the GI tract is involved, a patient’s stool may be tested for blood, and further tests (such as an endoscopy) may be ordered to look for dilated vein clusters. Imaging, such as an MRI, might be necessary to evaluate for blebs elsewhere in the body. A biopsy of the abnormal veins may be taken to look for a genetic cause.

What are the treatment options?

The CVAP team of specialists will develop a customized treatment plan based on a patient’s individual needs. This may include medications targeted to the genetic mutation that may be driving the disease; blood transfusions and iron supplementation to treat anemia; injection of medication into an abnormal vessel (sclerotherapy) in order to shrink it down; or surgical removal of significantly troublesome blebs.

The CHOP difference for blue rubber bleb nevus syndrome

Children seen by the CVAP team at CHOP benefit from a multidisciplinary team with extensive experience and deep expertise in the assessment and management of blue rubber bleb nevus syndrome. World-class specialists offer comprehensive care tailored to each child’s condition. The CVAP team at CHOP supports patients and their families every step of the way in their journey in managing a diagnosis of blue rubber bleb nevus syndrome.