Epithelioid hemangioendothelioma

It can be hard to find accurate information about epithelioid hemangioendothelioma (EHE) because it’s such a rare condition. Here at Children’s Hospital Boston, we understand the condition—both what it is and what it’s not—and we know when and how to treat it.

As is the case for all rare diseases, we recommended that an experienced team of specialists assists in ensuring your child has the correct diagnosis.

Here’s what you need to know:

• EHE is a rare vascular tumor that arises from the lining of your child’s blood vessels.
• It can appear anywhere in the body, but common sites are the liver, lungs and bones.
• The tumor behaves differently in different people.
  • Some are stable for years.
  • Some go away without treatment.
  • Some grow rapidly, spread and can even be fatal.
• There are several treatments available for epithelioid hemangioendothelioma. 

What does it mean that my child has EHE?

EHE is a tumor that forms from abnormal blood vessels. Your child may have a tumor that remains stable for years; on the other hand, your child could have a tumor that grows rapidly and causes many health problems. Therefore, the important first question to ask is whether a newly discovered tumor needs immediate treatment, or is safe to watch for a period of time.

What causes EHE?

The cause is currently unknown. EHE is not inherited—therefore, relatives and future children are not at increased risk for developing EHE.

How common is it?

It’s very rare, likely occurring in about one in 1,000,000 people. Just a few hundred people in the United States are diagnosed with EHE each year.

When does it appear?

EHE typically appears in older teens and young adults, though the tumor may be diagnosed in younger children or older adults.

Who has EHE?

It’s slightly more common in women than in men.

Is EHE cancer?

Some say “yes” and some say “no.”

• In some patients with more aggressive disease, EHE behaves like a low-grade (slow-growing) cancer.
• In other patients with stable or shrinking tumors without treatment, EHE behaves more like a benign (non-cancerous) vascular tumor.

The important point is that certain characteristics of your child’s EHE will determine if it is aggressive and requires more aggressive treatment. These characteristics include its location and the appearance of the biopsy under a microscope as well as whether it has changed in size and/or spread to other tissues.

Symptoms

Often, EHE can be misdiagnosed by your child’s primary physician, simply because the condition is so rare. Additionally, there are no specific symptoms for EHE.

So what will my child’s symptoms depend on?

Depending on the location of the tumor, irritation of nearby tissues can lead to discomfort or abnormal results from blood tests.

• Tumors in the liver may cause abdominal pain (the liver is in the right-upper abdomen), weight loss, blood work alterations or an abdominal mass.
• Lesions in the lung may cause chronic dry cough, shortness of breath or other problems.
• EHE in the bone can cause pain or weaken the bone, leading to increased risk of fracture.
• Skin lesions may be confused with other skin conditions at first. Often, doctors do not consider the diagnosis of EHE involving the skin until after a biopsy.

If your child has an unusual rash, or if imaging or a biopsy have raised the possibility of EHE, you should seek care at an experienced vascular anomalies center.

Keep in mind, though, that this condition is exceedingly rare, and the presence of any of these symptoms does not necessarily mean that your child has EHE.

Where do the tumors appear?

Because EHE arises from blood vessels (which are found throughout your body), EHE tumors can appear anywhere in your child’s body. They’re often found in the liver, lungs and bones.

Long-term outlook

What is the long-term outlook for my child?

EHE is such a rare condition that it’s difficult to determine the long-term outlook for your child.

The tumor also behaves very differently in different people.

• Some are stable for years.
• Some go away without treatment.
• Some grow rapidly, spread and can be fatal.

Every child is unique and your care team will work with you to develop a treatment plan that works for your family.

The prognosis for your child greatly depends on:

• the extent of the disease (how large the tumor is and whether it has spread)
• the size and location of the tumor determine whether we can surgically remove it
  • Tumors arising in the liver and those that are in multiple locations appear to be aggressive.
• the results of the biopsied tissue
  • Areas of cell death and markers of cell replication may indicate more aggressive tumors.
• response to therapy
• the overall health of your child
• your child's tolerance of specific medications, procedures, or therapies
• new developments in treatment

Children with EHE often need multidisciplinary care. Some specialists your doctor may recommend for your child include the following (all of these are available at Children’s, and all specialists have experience with EHE):

• hematologist/oncologists
• dermatologists
• plastic surgeons
• general surgeons
• interventional radiologists
• orthopedic surgeons
• gastroenterologist/hepatologists
• pulmonologists

Will my child’s tumor come back after treatment?

If we can completely remove the tumor surgically, it will most likely not come back. However, complete removal is not often possible due to the size, location or multiple sites of tumors. Remaining tumors may require further therapy and there is a risk of tumors coming back after treatment.

What do we do after treatment is over?

If your child’s doctor recommends chemotherapy or radiation therapy, your child will have comprehensive annual follow-up appointments to check for long-term problems in our survivorship clinic. A typical follow-up visit may include some or all of the following:

• a physical exam
• laboratory testing
• imaging scans

FAQ

Q: What is epithelioid hemangioendothelioma (EHE)?
A: EHE is a rare vascular tumor that arises from the lining of your child’s blood vessels.

Q: Is it cancer?
A: Some say “yes” and some say “no.”

• In some patients with more aggressive disease, EHE behaves like a low-grade (slow-growing) cancer.
• In other patients with stable or shrinking tumors without treatment, EHE behaves more like a benign (non-cancerous) vascular tumor.

The important point is that certain characteristics of your child’s EHE will determine if it is aggressive and requires more aggressive treatment. These characteristics include its location and the appearance of the biopsy under a microscope as well as whether it has changed in size and/or spread to other tissues.

Q: What does it mean that my child has EHE?
A: EHE is a tumor that forms from abnormal blood vessels. Your child may have a tumor that remains stable for years; on the other hand, your child could have a tumor that grows rapidly and causes many health problems.

• Therefore, the important first question to ask is whether a newly discovered tumor needs treatment or is safe to watch for a period of time.

Q: What causes EHE?
A: The cause is currently unknown.

• EHE is not inherited—therefore, relatives and future children are not at increased risk for developing EHE.

Q: So what will my child’s symptoms depend on?
A: Depending on the location of the tumor, irritation of nearby tissues can lead to discomfort or abnormal results from blood tests.

• Tumors in the liver may cause abdominal pain (the liver is in the right upper abdomen), weight loss, bloodworm alterations or an abdominal mass.
• Lesions in the lung may cause chronic dry cough, shortness of breath or other problems.
• EHE in the bone can cause pain or weaken the bone, leading to increased risk of fracture.
• Skin lesions may be confused with other skin conditions at first. Often, doctors do not consider the diagnosis of EHE involving the skin until after a biopsy.

If your child has an unusual rash or if imaging or a biopsy have raised the possibility of EHE, you should seek care with an experienced vascular anomalies center.

Keep in mind, though, that this condition is exceedingly rare, and the presence of any of these symptoms does not necessarily mean that your child has EHE.

Q: What is the long-term outlook for my child?
A: EHE is such a rare condition that it’s difficult to determine the long-term outlook for your child.

The tumor also behaves very differently in different people.

• Some are stable for years.
• Some go away without treatment.
• Some grow rapidly, spread and can be fatal.

Every child is unique and your care team will work with you to develop a treatment plan that works for your family.

Q: Will my child’s tumor come back after treatment?
A: If we can completely remove the tumor surgically, it will most likely not come back. However, complete removal is not often possible due to the size, location or multiple sites of tumors. Remaining tumors may require further therapy and there is a risk of tumors coming back after treatment.

Q: How do doctors diagnose EHE?
A: 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.

After we complete all necessary tests, our experts meet to review and discuss what they have learned about your child's condition. Then we will meet with you and your family to discuss the results and outline the best next steps to take.

Q: What are the treatment options for my child?
A. EHE is a complex condition. Your care team (your child’s doctor and an experienced vascular anomalies specialist) will outline the benefits of all the treatment options available with you. For more detailed information, see the Treatment & Care section.

At Children’s, we consider you and your child integral parts of the care team, and not simply recipients of care. You and your care team will work together to customize a plan of care for your child.

Q: What makes Children’s different?
A: We have the world’s largest vascular anomalies center, home to specialists who diagnose and treat more rare vascular conditions than at any other hospital. Our center has multidisciplinary expertise in both diagnosis (radiology and pathology) and treatment (surgery and medical specialties, including hematology/oncology).

Questions to ask your doctor

After your child is diagnosed with EHE, you may feel overwhelmed with information. It can be easy to lose track of the questions that occur to you.

Lots of parents find it helpful to jot down questions as they arise. That way, when you talk to your child’s doctors, you can be sure that all of your concerns are addressed. If your child is old enough, you may want to suggest that she write down what she wants to ask her health care provider, too.

Here are some questions to get you started:

• Could my child’s symptoms be caused by something else?
• What treatment do you recommend we start with?
• How will we know whether it’s working?
• What would we do next?
• How much experience has my child’s doctor had with diagnosing and treating EHE?