Find out about diagnosis and treatment options, including surgery, for these abnormal blood vessel formations of the brain and spinal column.
Cerebral cavernous malformations (CCMs) are abnormally formed blood vessels. As opposed to other kinds of hemangiomas, CCM vessels, which have the appearance of a small mulberry, develop and create problems in the brain or spinal cord. These malformations, which can vary in size from 2 millimeters to several centimeters in diameter, may be hereditary but most often occur on their own.
CCMs may leak blood, leading to bleeding in the brain or spinal cord (hemorrhage). Brain or spinal hemorrhages can generate a wide range of more apparent neurological symptoms, depending on the location of a cavernous malformation in a person's nervous system.
Cerebral cavernous malformations (CCMs) may exist without apparent symptoms. Obvious symptoms tend to occur when recurrent episodes of bleeding or blood clot formation lead either to seizures, for upper lobe CCMs, or to focal or vision issues, for CCMs in the brainstem, basal ganglia and spinal cord.
Generally, signs and symptoms of CCMs may include weakness, numbness, difficulty speaking, difficulty understanding others, unsteadiness, vision changes or severe headache. Seizures also can occur, and neurological issues can progressively worsen over time with recurrent bleeding (hemorrhage). Repeat bleeding can occur soon after an initial bleed or much later, or a repeat bleed may never occur.
Seek medical help immediately if you experience any symptoms of seizure, or signs and symptoms that suggest brain hemorrhage, such as:
Most CCMs occur as a single formation, without an apparent cause and without any family history.
However, roughly 20 percent of affected people have a familial (inherited) form of the disorder. In many cases, such people can identify similarly affected family members, most often with multiple malformations. A diagnosis of the inherited form can be confirmed by genetic testing.
Some CCMs can also occur following focal brain radiation therapy.
As mentioned above, while most CCMs occur with no clear cause, the genetic (inherited familial) form of the condition can cause multiple cavernous malformations, both initially and over time.
To date, research has identified three genetic variants responsible for familial cavernous malformations, to which almost all familial cases of cavernous malformations have been traced.
The most concerning complications of CCMs stem from recurrent bleeding (hemorrhage), which may lead to progressive neurological damage.
Hemorrhages are more likely to recur in people with prior diagnosed hemorrhages. They're also more likely to reoccur with malformations located in the brainstem.
Often, people with cerebral cavernous malformations (CCMs) don't show any signs or symptoms. Your diagnosis may result from brain imaging for other neurological conditions, or specific symptoms may prompt your doctor to pursue more extensive testing.
Depending on why the condition is suspected, doctors may order tests specifically to confirm CCMs, or to identify or rule out other related conditions. Brain imaging is also called for as soon as possible after the emergence of any new symptoms, to reveal either hemorrhage or the emergence of any new malformations.
Doctors trained in brain and nervous system conditions (neurologists and cerebrovascular neurologists), brain and nervous system surgery (neurosurgeons), brain imaging (neuroradiologists), and other specialties work with you to treat CCMs as well as other neurological conditions.
Your treatment may include:
If your treatment plan includes surgery, more advanced imaging technologies, such as functional MRI and tractography, may also be useful within specific contexts.
Several imaging technology areas hold promise for both improving predictions of the course of disease in some specific contexts and for enhancing the level of information available about a particular individual's disease state, including potential advances in imaging through quantitative susceptibility mapping (QSM), permeability imaging using dynamic contrast-enhanced MRI, and the use of alternative MRI contrast agents such as ferumoxytol. While still under investigation, such developments hold promise for enhanced imaging that may lead to more precise and effective clinical care in the future.
Bring along any recent brain scans in a CD to your appointment.
Also, if you've experienced seizures, your doctor may want to ask questions of someone who has witnessed them, as it's common not to be aware of everything that happens when you experience one.
Preparing a list of questions will help you make the most of your time with your doctor. List your questions from most important to least important in case time runs out. Most of these would be covered during your visit. Some examples of good questions to ask your doctor follow.
Other questions may be useful for your particular needs. The Angioma Alliance website offers a more extensive set of suggested questions.
In addition to the questions you've prepared to ask your doctor, don't hesitate to ask questions during your appointment at any time that you don't understand something.
Your doctor is also likely to ask you a number of questions:
Certain conditions and activities can trigger seizures, so it may be helpful to:
December 24th, 2020