Cavernous Malformation (Cavernoma)

What is a cavernous malformation?

A cavernous malformation is an abnormal cluster of tightly packed capillaries (small blood vessels). It’s usually located in your brain, brainstem and spinal cord (cerebral cavernous malformation).

The cavernous hemangioma (lesion) looks like a raspberry. It can range in size from a fraction of an inch to dime-sized or larger. It has blood-filled spaces with connective tissues between them. They don’t have a lot of support and they’re thinner than other capillaries. This makes them more likely to leak blood. As a result, you may experience symptoms and potentially life-threatening complications if the bleed is severe.

Cavernous malformations go by many different names. You may hear your healthcare provider refer to them as:

• Cavernomas.
• Cavernous hemangiomas.
• Cerebral cavernous malformations.
• Cavernous angiomas.
• Occult vascular malformations.

Are cavernous malformations dangerous?

The thin walls of these capillaries make cerebral cavernous malformations prone to bleeding. Bleeding in your brain and spinal cord (hemorrhage) can cause seizures, paralysis or stroke. They can be life-threatening in severe cases. But most hemangiomas don’t cause too many problems.

Many factors determine if cavernous malformations are dangerous, including:

• The size.
• The number of hemangiomas you have.
• The location.
• The likelihood that the hemangioma will rupture with severe bleeding.

Because each person’s situation is unique, it’s best to ask your healthcare provider about your risk for dangerous and possibly life-threatening events.

What are the symptoms of a cavernous malformation?

Symptoms may include:

• Balance issues.
• Blurred vision, double vision or vision loss.
• Difficulty with bowel and bladder control.
• Dizziness.
• Fatigue.
• Headache.
• Hearing loss.
• Memory loss.
• Seizures.
• Slurred speech.
• Tremors.
• Weakness or numbness (arm or leg).

Symptoms usually appear between ages 20 and 60. You might not experience any symptoms. If you do have symptoms, it’s usually a sign that the cavernoma is bleeding. But you also might not have any symptoms during a bleed. They range in severity based on the size and location.

Where do cavernous malformations form?

Cavernous malformations can develop anywhere in your body. They usually only cause serious problems in your brain or spinal cord. They can also appear on your skin, liver and eyes.

What causes a cavernous malformation?

Healthcare providers aren’t sure what causes most cavernous malformations. Nearly 20% are genetic and happen due to a variant of the following genes:

• CCM1 (KRIT1).
• CCM2.
• CCM3 (PDCD10).

These genes produce proteins that connect blood vessel cells to each other (junctions). A genetic variant weakens the cell junction and causes hemangiomas to form.

Are cerebral cavernous malformations hereditary?

Some cavernous malformations are hereditary (run in families). Having more than one cerebral cavernous hemangioma is more common in people with a family history.

You could receive one copy of the gene variant from a biological parent to inherit this condition (autosomal dominant). If you have a hemangioma, your children have about a 50% chance of having one, too.

But most cases happen sporadically (randomly), without any genetic history of the condition in your biological family.

What are the risk factors for a cavernous malformation?

You may be more at risk of a cerebral cavernous malformation if you:

• Have another type of abnormal blood vessel, known as a developmental venous anomaly (DVA).
• Had radiation therapy to your brain or spine.
• Have a biological family history of cavernous hemangiomas.

How is a cavernous malformation diagnosed?

A healthcare provider will diagnose a cerebral cavernous malformation after an exam and testing. Your provider will review your symptoms during a physical exam. They may offer a genetic test to find a genetic variant that caused the cavernoma. Your provider may also offer an MRI to see the malformation more closely and look for signs of bleeding or swelling.

Your provider may order a special type of MRI scan called susceptibility-weighted imaging. This is a more sensitive type of MRI. It detects the tiniest cavernous hemangiomas, as well as remnants of prior bleeds. This information helps give your care team some idea about the risk of future complications.

Providers typically don’t diagnose cerebral cavernous malformations until they rupture and bleed. However, you may have a cavernoma without symptoms. In this case, your provider would diagnose it if you had a brain scan for another reason.

How is a cavernous malformation treated?

Cavernous malformation treatment varies based on its location and whether or not it’s bleeding or causing symptoms.

If the cavernoma isn’t bleeding, your provider may schedule regular imaging scans to monitor it over time. You’ll also learn more about what symptoms to look out for and when to call your provider in case a bleed occurs between appointments.

Your provider may recommend the following treatment options for a bleeding cavernous malformation:

• Medications to manage seizures or headaches.
• Surgery to remove it.

Your provider may consider surgery if:

• You had one or more symptomatic bleeding episodes.
• The bleeding caused neurologic problems (like weakness or vision problems) and the problems are getting worse.
• You have seizures that don’t get better with medication.
• Surgery is a safe option for you.

Can a cavernous malformation be prevented?

There’s no known way to prevent cavernous malformations. If you have a family history of these hemangiomas, your provider will discuss genetic testing and genetic counseling to help you learn more about this condition.

How can I lower my risk of a cavernous malformation bleed or rupture?

While you can’t prevent all cavernoma bleeds or ruptures, you can reduce your risk by taking care of your general health. You can do this by:

• Managing your blood pressure, cholesterol and blood glucose levels to be in a healthy range for you and your body.
• Talking to your provider about any medications you currently take to see if they increase your risk of bleeds (especially blood thinners).
• Getting at least 30 minutes of physical activity most days of the week.
• Avoiding the use of tobacco products.
• Getting regular checkups with a healthcare provider and contacting them if you have any questions or concerns.

What’s the outlook for a cavernous malformation?

Cerebral cavernous malformation bleeds and ruptures aren’t common, but they do happen. Research estimates that you have a 2.4% chance of having a bleed annually if you have one.

Treatment options are available. While there are risks to surgery, the outcome of removing a cerebral cavernous malformation is usually successful if your surgeon can safely access it.

If you have more than one hemangioma or one that’s bleeding or causing symptoms, your provider will discuss how often to have follow-up MRI scans.

If I’ve had one bleed from a cavernous hemangioma, is it likely to bleed again?

Yes, if you had a bleed, you’re at a higher risk of a future bleed. A healthcare provider will let you know how to take care of yourself to help prevent future bleeds.

What’s the cavernoma life expectancy?

Cerebral cavernous malformations can be life-threatening if they cause severe bleeding. But most don’t affect life expectancy. Complications after a bleed, however, may affect your quality of life, like after a stroke.

Each person’s situation is different. You should speak with your healthcare provider to learn more about your situation.

When should I go to the ER?

Contact emergency services if you notice symptoms of a cavernous malformation, especially a first-time seizure, one-sided weakness or sudden vision changes. Symptoms may be a sign of bleeding, which could cause a stroke, so it’s important that you get care right away.

What questions should I ask my healthcare provider?

• Do I need surgery?
• What are the risks of surgery?
• How do I take care of myself to prevent a rupture?
• Do any medications that I currently take affect the cavernous malformation?

What’s the difference between a cavernous malformation and an AVM?

Another common type of blood vessel malformation is an arteriovenous malformation (AVM). Unlike cavernous malformations, which are filled with slow-moving or stagnant (not moving) blood, AVMs involve high-pressure blood flow.

Cavernous malformations and AVMs can be similar in size, depending on the number of blood vessels involved. They can both rupture and bleed. But if they do bleed, the high-pressure blood flow of an AVM can be more severe and cause more damage.

After AVMs, cavernous malformations are the most likely type of blood vessel lesion to need treatment. Surgery, as well as other options, is available for treating AVMs. Cavernous malformations are best treated with surgery to remove the hemangioma.