Epithelioid hemangioendothelioma

Diagnosing epithelioid hemangioendothelioma (EHE) can be difficult for many physicians simply because it’s such a rare condition. The specialists in the Vascular Anomalies Center at Children’s Hospital Boston are experienced with EHE. We have diagnosed dozens of children and young adults and made decisions about treatment options.

How do doctors diagnose EHE?

Diagnosing EHE is a process that happens in a few stages because the skin lesions associated with EHE are often confused with more common skin conditions.

• Your doctor will evaluate any internal lesions are evaluated based on the symptoms caused by the locations of EHE tumor(s).
• Your doctor may recommend an imaging study based on physical signs or results from blood tests.
  • An experienced radiologist may consider EHE based on imaging.
• Tumors seen on imaging are often biopsied and a pathologist may be the first person to consider the diagnosis of EHE.
  • Biopsy is nearly always needed to confirm the diagnosis of EHE.

That sounds complicated. Where do we start?

When you make an appointment at Children’s, we start by gathering all the information from doctors and studies already performed. When you get here, we will ask you about your child’s and family’s medical history and your child will receive a thorough physical exam.

Your child will probably need a biopsy performed to be certain of the diagnosis of EHE. A biopsy is a simple surgical procedure where a doctor removes a small tissue sample from the tumor in the least invasive way possible. Your child may be sedated or more likely asleep (under anesthesia) for this procedure.

• Examining the tumor's cellular appearance and other features under a microscope allows the physician to determine definitively whether your child has EHE.
• If your child has had a biopsy done elsewhere, we always try to make the diagnosis with this sample before performing another biopsy.

What imaging studies might our doctor recommend?

We will review imaging studies performed elsewhere and determine if additional imaging needs to be done specifically here at Children’s. Depending on where the tumor is located, this may include an MRI scan, a CT scan, an x-ray or a PET scan.

• magnetic resonance imaging (MRI): This high-resolution scan shows the size of your child’s tumor and its relationship to nearby muscles, nerves, bones and other blood vessels. MRI provides the best available pictures and does so without radiation exposure. However, doctors can’t use MRI everywhere on the body and some areas affected by EHE may be better imaged with other technologies.
  • We have multiple MRI scanners at Children’s and experienced radiologists available to interpret the images.

• computerized tomography scan (also called a CT or CAT scan): A CT scan also shows detailed images of the area around your child’s tumor, including the bones, muscles, fat and organs.
  • It is better than MRI for looking at lesions on your child’s bones.
  • CT scans use radiation to see inside your child’s body, though the risk of radiation is minimized with imaging protocols developed here at Children’s.

• x-ray (also called a plain film): Traditional X-rays are also helpful for lesions on your child’s bones. They also use less radiation than CT scans.

• PET scan: A PET scan is a whole body scan (except for the brain). A small amount of radioactive glucose (sugar) allows our nuclear medicine radiologists to see active tumors throughout the body.
  • EHE tumors take up more sugar than surrounding tissues and can be monitored with PET scans.

PET scan can be helpful at diagnosis to see where else tumors may be and helpful to monitor response to therapy.

• Children's is the only facility in New England that has a PET scanner dedicated solely to children.

Are there any other tests?

Your child's doctor may also ask for bloodwork to measure liver and kidney function, blood electrolytes and blood cells. This is important for diagnosis and sometimes during therapy.

What’s the blood test like?

One of the members of your care team (probably a nurse) will take a little blood from your child and collect it in a small glass tube. Our lab then analyzes your child’s blood and sends the results to your doctor who will follow up with you about treatment options and what happens next.