Diagnosis

Often people with cerebral cavernous malformations (CCMs) don't have any symptoms. A CCM may be found as a result of brain imaging for another condition. Sometimes specific symptoms may prompt your healthcare professional to do more testing.

Tests

Depending on why the condition is suspected, your healthcare professional may order tests to confirm CCMs or to identify or rule out other related conditions. You may have imaging tests to look for changes in the blood vessels. Your healthcare professional also may order tests if you have already been diagnosed with a CCM and have new symptoms. The tests can show if there's bleeding or new CCMs.

  • Magnetic resonance imaging (MRI). In this test, a detailed picture is made of your brain or spine. Sometimes a contrast dye is injected into a vein in the arm.
  • Genetic testing. If you have a family history of the condition, genetic counseling and blood or saliva tests can help find gene changes related with CCMs.

Treatment

Cerebral cavernous malformations (CCMs) are treated by specialists. They may include:

  • Doctors trained in brain and nervous system conditions, known as neurologists and cerebrovascular neurologists.
  • Doctors trained in brain and nervous system surgery, known as neurosurgeons.
  • Doctors trained in brain imaging, known as neuroradiologists.

Doctors trained in other specialties also may be involved in your treatment.

Your healthcare team reviews your symptoms and imaging tests to decide on a treatment plan. The care team may recommend closely watching the cavernous malformation is recommended. Or your care team may recommend removing or treating the cavernous malformation. Several options exist for treating a cavernous malformation surgically. And research is looking into medicines that can reduce bleeding risk.

If you have seizures related to a cavernous malformation, you may be prescribed medicines to stop the seizures.

If your treatment plan includes surgery, more-advanced imaging technologies may be useful. You may have a functional MRI, which measures blood flow in the active parts of the brain. Another option is tractography, which creates a map of the brain to make surgery as safe as possible.

The outlook of cerebral cavernous malformations depends on many factors, including their size, growth and whether they cause symptoms. Some CCMs don't cause any symptoms at all, while others can cause serious bleeding in the brain.

Potential future treatments

Experts are looking at using imaging technology to improve predictions of the course of disease in some people. They're also looking at using imaging to get more information about a particular individual's disease state. These technologies include imaging through quantitative susceptibility mapping and permeability imaging using dynamic contrast-enhanced MRI.

Several medicines are being tested in clinical trials to see if specific medicines — rather than surgery — could reduce the chance of further bleeding. Talk to your healthcare professional about which clinical trials may be available to you.

Preparing for your appointment

See your healthcare professional if you have any symptoms that worry you. If a cerebral cavernous malformation is suspected, a referral to an experienced specialist can provide the best outcome.

Here's some information to help you get ready for the appointment, and what to expect from your healthcare professional.

What you can do

  • Keep a detailed symptoms calendar. Each time a symptom occurs, write down the time, what you experienced and how long it lasted.
  • Write down key personal information, including any major stresses or recent life changes.
  • Make a list of all medicines, vitamins or supplements you're taking.
  • Take a family member or friend along. Sometimes it can be hard to remember all the information provided to you during an appointment. Someone who comes with you may remember something that you missed or forgot.
  • Bring any recent brain scans in a CD to your appointment.

Also, if you've experienced seizures, your healthcare professional may want to ask questions of someone who has witnessed them. It's common not to be aware of everything that happens when you experience a seizure.

Write down questions to ask your healthcare professional

Prepare a list of questions to help you make the most of your time. List your questions from most important to least important. Here are some examples of questions to ask.

General questions

  • How many cavernous malformations do I have?
  • Where is it, or where are they located?
  • What functions do the area or areas of the brain perform?
  • Should I have genetic tests?
  • Should my children or anyone else in my family be tested?

Management and observation

  • How often will I need follow-up tests?
  • How often will I follow up with you?

Surgery to remove a malformation

  • How long would you estimate I'd be in surgery?
  • How long does surgery recovery usually take?
  • How long should I plan to be in the hospital?

Surgical background

  • How many CCMs have you seen, and how many have you treated?
  • Does your institution have a cerebrovascular specialty practice?

Other questions may be useful for your needs. The Alliance to Cure Cavernous Malformation offers lists of suggested questions.

Don't hesitate to ask any other questions during your appointment if you don't understand something.

What to expect from your doctor

You're likely to be asked a number of questions:

  • When did you first begin experiencing symptoms? For example, when did headaches, seizures, bleeding, or weakness in your arms or legs start? When did you begin to have trouble with vision, balance, speech, memory or attention?
  • Do your symptoms come and go, or are they present all the time?
  • Do your symptoms seem to be triggered by certain events or conditions?

What you can do in the meantime

Certain conditions and activities can trigger seizures, so it may be helpful to:

  • Not drink too much alcohol.
  • Not use nicotine.
  • Get enough sleep.
  • Reduce stress.
By Mayo Clinic Staff