ورم أرومي وعائي

نظرة عامة

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.

الأعراض

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.

الأسباب

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.

عوامل الخطورة

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.

المضاعفات

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.

الوقاية

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.