Hemangioblastoma

Overview

A hemangioblastoma is a rare, slow-growing tumor that starts in the cells that form blood vessels in the brain, spinal cord or part of the eye. These tumors are noncancerous, also called benign.

Hemangioblastoma used to be called angioblastoma. These tumors are different from a hemangioma. A hemangioma is a common birthmark or blood vessel growth that usually appears in the skin or soft tissue and does not involve the brain or spinal cord.

Hemangioblastoma most often appears in midlife, typically in the 40s or 50s. But it tends to occur earlier — often in the late 20s to 30s — in people with von Hippel-Lindau (VHL) disease. The tumor is very uncommon in children.

Hemangioblastomas are most often found in the cerebellum, but they also can appear in the brainstem, spinal cord or light-sensing layer at the back of the eye, called the retina.

Symptoms of hemangioblastoma depend on where the tumor grows. Symptoms can include headache, trouble with balance, muscle weakness, and sensory and vision changes.

An MRI with contrast is usually used to find the tumor and any nearby fluid-filled cysts, which are common with hemangioblastomas. Treatment often starts with medicine taken by mouth. Surgery is used when needed to remove the tumor and lower pressure in the area where it grows.

For small or hard-to-reach tumors, focused radiation such as stereotactic radiosurgery may be used.

After complete tumor removal, long-term outlook is generally good, with most people remaining tumor-free for many years.

Symptoms

Symptoms depend on where the tumor grows and whether it puts pressure on nearby nervous system structures. Many hemangioblastomas form fluid-filled sacs called cysts when fluid leaks from the tumor into nearby tissue. As a cyst expands, it can raise pressure inside the head or spine. This pressure makes symptoms worse and causes the disease to progress more quickly.

Symptoms may appear suddenly if there is pressure on nerves, blocked fluid flow, swelling or, less often, bleeding.

Common symptoms based on the tumor location include:

• Cerebellum and brain: Headache, dizziness, nausea, vomiting, and trouble with balance or coordination.
• Brainstem: Trouble swallowing, double vision or trouble with eye movement, slurred speech, facial weakness, and walking that is not steady.
• Spinal cord: Neck or back pain, weakness, numbness or tingling, and trouble with bladder or bowel function.
• Retina, part of the eye: Blurry vision or vision loss.

When to seek care

Get medical help right away for sudden or severe symptoms that may signal bleeding or blocked fluid flow in the brain or spine. These can include:

• A sudden, intense headache that feels different from a typical headache.
• Repeated vomiting, confusion or sudden drowsiness.
• Double vision, new vision loss or facial drooping.
• New or fast-worsening weakness, numbness or trouble walking.
• Loss of bladder or bowel function.

Contact your care team soon for milder symptoms that keep getting worse, such as trouble with balance, ongoing headaches, or gradual changes in vision, coordination or limb strength.

Causes

The cause of hemangioblastoma depends on whether the tumor develops on its own or as part of an inherited condition. Most hemangioblastomas happen for no known reason and are called sporadic. These tumors are not passed down through families.

About 1 in 4 hemangioblastomas is linked to a genetic condition called von Hippel-Lindau (VHL) disease. This condition occurs when a person is born with a change, also called a mutation, in the VHL gene. The gene typically helps control cell growth and blood vessel formation. When it doesn't work correctly, extra blood vessels can grow and form tumors in the brain, spinal cord, eyes and other organs. Only tumors caused by VHL disease can be inherited from a parent who carries the gene change.

In people without VHL disease, similar gene changes can happen later in life inside the tumor itself. These are called somatic mutations. They affect only the tumor, not the rest of the body.

Researchers believe that when the VHL gene stops working properly, it allows certain proteins that promote blood vessel growth to build up. This process may lead to the formation of a hemangioblastoma over time.

People who have a family history of VHL disease may benefit from genetic counseling or testing to learn more about their risk.

Risk factors

Most people with hemangioblastoma have no known risk factors.

The main factor that increases risk is von Hippel-Lindau (VHL) disease, a condition passed down in families. It causes tumors and cysts in several parts of the body. People with VHL disease have a much higher chance of having one or more hemangioblastomas during their lifetimes. But having VHL disease does not always mean a tumor will form.

Hemangioblastoma also can appear at a younger age in people with VHL disease compared with those who have a single, sporadic tumor. Sporadic tumors usually occur later in life, most often between ages 30 and 60. They affect people of all genders at about the same rate.

Hemangioblastoma occurs slightly more often in men than in women.

There are no lifestyle, environmental or behavioral factors known to cause hemangioblastoma.

Because hemangioblastoma can sometimes run in families affected by VHL disease, genetic testing and counseling are recommended for people who have:

• More than one hemangioblastoma.
• A family history of VHL disease or VHL disease-related tumors.
• Hemangioblastoma diagnosed before age 50.

Complications

Although hemangioblastomas are benign, they can cause serious complications if they grow, bleed or block fluid flow in the brain or spinal cord.

Cyst formation is one of the most common issues. The tumor can create a fluid-filled sac that raises pressure inside the head or spine and worsens symptoms such as headache, nausea and trouble with balance.

As pressure builds, fluid can collect in the brain, a condition called hydrocephalus. This can lead to headache, vomiting, vision changes and walking that is not steady.

Bleeding within the tumor, called hemorrhage, can occur suddenly and may cause a severe headache, rapid loss of coordination or lessened alertness.

When a hemangioblastoma grows in the cerebellum or spinal cord, it can damage or compress surrounding nervous system pathways. This can lead to symptoms such as weakness, numbness, and difficulty with balance and coordination.

If the tumor forms in the retina, it can cause vision loss from bleeding or retinal detachment.

Prevention

Theres no known way to prevent a hemangioblastoma from happening. Most tumors occur without any clear cause, and lifestyle factors do not appear to play a role.

For people with von Hippel-Lindau (VHL) disease, regular screening and imaging can help detect hemangioblastoma and other tumors early and lower the risk of serious complications. These checkups often include brain MRI and imaging scans of the spinal cord and abdomen. You may have an eye exam to look for changes in the retina.

Family members of someone diagnosed with VHL disease also may benefit from genetic counseling or testing to learn whether they carry the same gene change. Identifying VHL disease early allows for careful monitoring and treatment before tumors cause symptoms.

Diagnosis

Diagnosing a possible hemangioblastoma often begins with a medical history, general physical exam and neurological exam. The care team reviews symptoms such as headache, vision changes, weakness and trouble with balance. The team also checks reflexes, coordination, eye movement and muscle strength to look for signs of pressure on the brain or spinal cord.

The diagnosis usually includes:

• Medical history: When symptoms started, how they changed over time, prior tumors or cysts, and any family history of von Hippel-Lindau disease.
• Physical exam: Overall health check, vital signs, and general signs of increased pressure, such as vomiting or drowsiness.
• Neurological exam: Tests of reflexes, strength, sensation, eye movement, balance, coordination and walking.
• Eye check when vision is affected: A focused look at the back of the eye to assess the retina.

If the exam suggests an issue in the brain, brainstem, spinal cord or retina, imaging tests are the next step.

Imaging and other tests help confirm the diagnosis and guide care.

• MRI with contrast
  What it is: This is the main test for hemangioblastoma. MRI uses a powerful magnet and radio waves to create detailed 3D pictures of the brain or spinal cord. A special contrast is given through a vein so the tumor stands out on the images.

  What it shows: The images show both solid and fluid-filled parts of the tumor and its blood supply. On MRI, the tumor often looks like a bright round spot next to a pocket of fluid.

  Radiologists can often tell a hemangioblastoma from other tumors by how it looks on MRI. It usually has a single bright nodule with strong blood flow, while other brain tumors such as pilocytic astrocytoma or nontumor lesions such as cavernous hemangioma tend to have different characteristics on imaging.

• CT scan
  What it is: A CT scan, also called a computerized tomography scan, uses a series of X-rays and computer processing to create detailed cross-sectional images of the brain or spine. Sometimes contrast is injected into a vein to highlight the tumor or nearby blood vessels. CT is sometimes used if MRI is not available or as an additional view. It is less detailed for the back of the brain.

  What it shows: The images show overall size and location, calcium or bleeding, but small tumors near bone can be hard to see.

• Cerebral angiogram
  What it is: This test uses contrast and X-rays to map the arteries that feed the tumor. Cerebral angiogram often is used if MRI is not possible or when planning surgery.

  What it shows: The images show detailed blood vessel pathways and which vessels supply the tumor.

• Biopsy or surgical diagnosis
  What it is: If imaging results are unclear, tissue is removed during a biopsy or during surgery and examined under a microscope.

  What it shows: The exam shows a dense network of blood vessels and distinctive stromal cells. These are supportive cells that contain fat and fluid. These findings confirm hemangioblastoma.

  Under the microscope, the tumor is made up of large clear stromal cells surrounded by many small blood vessels. These cells often test positive for a marker called inhibin A, which helps confirm the diagnosis.

• Genetic testing
  What it is: Genetic testing for von Hippel-Lindau (VHL) disease may be recommended when a person has more than one tumor or is diagnosed before age 50.

  What it shows: The results show whether a VHL gene change is present. This helps guide screening for tumors in the brain, spine, eyes and abdomen.

Treatment

Hemangioblastomas are classified as World Health Organization (WHO) grade 1 tumors, which means they are benign and tend to grow slowly. Unlike cancers, they don't spread to other parts of the body, so there's no TNM staging system for them. TNM stands for tumor, node and metastasis. This system is used for cancers to describe tumor size and whether a tumor has spread to lymph nodes or distant organs.

Hemangioblastomas can keep growing or return after surgery, especially in people with von Hippel-Lindau (VHL) disease.

The tumors usually grow slowly over several years. People with VHL disease may have more than one hemangioblastoma in the brain, spinal cord or eyes over time.

Treatment for hemangioblastoma focuses on safely removing or controlling the tumor and easing pressure on nearby brain or spinal cord tissue. The best approach depends on the tumor's size and location and whether it's linked to VHL disease.

Surgery or other procedures

• Surgery
  What it is: Surgery is the main treatment for most hemangioblastomas. The goal is to remove the entire tumor, including any cyst wall, while protecting nearby brain or spinal cord tissue.

  What it does: Surgery relieves pressure, improves symptoms and usually provides a lasting cure for sporadic tumors when complete removal is possible.

• Preoperative embolization
  What it is: This Procedure is done before surgery for some large or deep tumors. A catheter is used to block the blood vessels feeding the tumor to reduce bleeding during removal.

  What it does: Preoperative embolization lowers surgical risk by decreasing the tumor's blood flow.

• Radiation therapy
  What it is: Radiation therapy uses focused beams of energy to destroy tumor cells. The treatment can include stereotactic radiosurgery, proton therapy or external beam radiation.

  What it does: The treatment helps control tumors that are small or hard to reach with surgery or return after earlier treatment. Long-term studies show that focused radiosurgery can control tumor growth in most people — about 85 % to 90% at five years — with few serious side effects.

Medicines and therapies

• Targeted therapy
  What it is: Belzutifan (Welireg) is a newer medication approved for people with VHL disease who develop multiple tumors. It works by blocking a protein that helps tumors form new blood vessels.

  What it does: Belzutifan may slow or shrink VHL-related hemangioblastomas and reduce the need for repeated surgeries.

• Follow-up and monitoring
  What it is: This ongoing care includes regular MRI scans to check for new or returning tumors, especially for people with VHL disease.

  What it does: Care teams can detect changes early so treatment can begin before symptoms or complications develop.

• Rehabilitation
  What it is: Some people may need physical, occupational or vision therapy after treatment to help regain strength, balance or coordination.

  What it does: Rehabilitation supports recovery and helps people return to their typical daily activities.

  People who have lasting changes in vision or balance after treatment may benefit from specialized rehabilitation. Vision therapy, low vision aids and orientation training can help make daily activities easier. Balance or vestibular therapy can improve coordination and lessen dizziness or unsteadiness. Your care team can refer you to therapists who focus on neurological rehabilitation.

Potential future treatments

Researchers are testing new medicines that work like belzutifan. They also are looking for ways to make radiation more precise. Clinical trials may offer options for people with VHL disease or tumors that come back.

Alternative medicine

There are no proven alternative or natural treatments for hemangioblastoma. Some integrative approaches used alongside standard care — such as gentle exercise, mindfulness or relaxation techniques — may help with stress or fatigue and support overall well-being.

Talk with your care team before trying any integrative therapy or dietary supplements. Some products can interact with treatments, be of poor quality or cause harm if misused. Avoid replacing recommended medical care with unproven alternatives.

Certain options, including dietary supplements or cannabis, may pose specific risks. Make decisions with your care team and in line with local laws and safety guidance.

While no alternative therapies can treat hemangioblastoma, some lifestyle habits and self-care strategies can support recovery.

Lifestyle and home remedies

There are no specific home treatments that prevent or shrink a hemangioblastoma. But healthy habits can support recovery and help you feel your best after treatment.

• Stay active safely. Gentle physical activity, such as walking or stretching, can help improve balance and strength. Ask your care team which exercises are safe for you.
• Follow your care plan. Keep all scheduled MRI scans and appointments. Regular imaging helps your care team find any changes early.
• Manage stress. Practices such as mindfulness, breathing exercises or relaxation techniques can help reduce anxiety and improve sleep.
• Eat well. A balanced diet with enough protein, fruits, vegetables and fluids supports healing after surgery or radiation.
• Use support. Connecting with others through counseling, support groups or online communities can help you cope emotionally and stay motivated.

Coping and support

Living with a rare tumor such as hemangioblastoma can bring physical and emotional challenges. You may feel anxious about treatment, recovery or the chance of new tumors forming over time. Support and practical strategies can help you cope and feel more in control.

• Learn about your condition. Understanding your diagnosis and treatment plan can help reduce fear and uncertainty. Ask your care team to explain anything that isn't clear.
• Stay connected. Talking with family, friends or others who have von Hippel-Lindau (VHL) disease or a rare tumor can help you feel supported and less alone. Online community support groups can provide connection and understanding.
• Work with your care team. Let your team know if you have new or worsening symptoms or emotional changes. Counseling, stress management or rehabilitation can be part of your care.
• Take care of yourself. Rest, good nutrition and gentle exercise support your recovery and mood. Mindfulness, breathing exercises or relaxation techniques also may help lower stress.
• Use practical support. If travel, finances or scheduling are stressful, ask your team's social worker or care navigator about resources for lodging, transportation or financial assistance.

Having a long-term care plan and a team you trust can make living with hemangioblastoma easier. Many people find strength in building a support network and focusing on the parts of life they can control.

Preparing for an appointment

You may start by seeing your primary healthcare professional if you have symptoms such as headache, trouble with balance or vision changes. You'll likely be referred to a neurologist, neurosurgeon or neuro-oncologist who specializes in conditions affecting the brain, spinal cord or eyes.

Because appointments can be brief, it helps to be prepared. Here are some steps to consider:

What you can do

• Write down your symptoms, when they began and how they've changed.
• Note any family history of von Hippel-Lindau (VHL) disease or similar tumors.
• Bring a list of all medicines, vitamins and supplements you take.
• Ask a family member or friend to come with you, if possible, to help remember information.
• Write down questions to ask your care team.

Questions to ask your care team

• What could be causing my symptoms?
• What tests do I need?
• What treatment options do I have?
• If I have a hemangioblastoma, how large is it and where is it located?
• What are the possible risks and benefits of each treatment?
• Do I need to be screened for VHL disease?
• Should my family members have genetic counseling or testing?
• What type of follow-up will I need?

What to expect from your doctor

Your care team reviews your symptoms and imaging results, discusses treatment choices and helps plan your next steps. You'll likely have time to ask questions and learn about what to expect before, during and after treatment.