Understand the signs and symptoms that may occur when blood vessels in the brain or spinal cord are tightly packed and contain slow-moving blood.
Cerebral cavernous malformations (CCMs) are groups of tightly packed, abnormal small blood vessels with thin walls. They may be present in the brain or spinal cord. The vessels contain slow-moving blood that's usually clotted. CCMs, which look like a small mulberry, can create problems in the brain or spinal cord due to leaking of blood in some people.
The clusters can vary in size from less than a quarter of an inch (0.6 centimeter) to 3 to 4 inches (7.6 to 10.2 centimeters). CCMs can run in families, but most often they occur on their own.
CCMs are one of several types of brain vascular malformations, which contain abnormal blood vessels. Other types of vascular malformations include:
It's common to have both a DVA and a CCM.
CCMs may leak blood and lead to bleeding in the brain or spinal cord (hemorrhage). Brain hemorrhages can cause many signs and symptoms, such as seizures.
Depending on the location of the cavernous malformation in a person's nervous system, CCMs can also cause stroke-like symptoms. Bleeding in the spinal cord can cause difficulty with movement or feeling in the legs and sometimes arms, as well as bowel and bladder symptoms.
A cerebral cavernous malformation is an abnormally formed blood vessel, shaped like a small mulberry, which can form in the brain or spinal cord and may result in a wide range of neurological symptoms.
CCMs may exist without apparent symptoms. Seizures may occur when there is a CCM on the outer surface of the brain.
A wide variety of signs and symptoms may occur when CCMs are found in the brainstem, basal ganglia and spinal cord. For example, bleeding in the spinal cord may cause bowel and bladder symptoms or trouble with movement or feeling in the legs or arms.
Generally, signs and symptoms of CCMs may include:
Neurological issues can progressively worsen over time with recurrent bleeding. Repeat bleeding can happen soon after an initial bleed or much later. In other cases, a repeat bleed may never occur.
Seek medical help immediately if you experience any symptoms of seizure, or signs and symptoms that suggest a CCM or brain bleeding.
Most CCMs are known as "sporadic form." They occur as a single formation without an apparent cause and without any family history. The sporadic form often has an associated developmental venous anomaly (DVA), which is an irregular vein with a witch's broom appearance.
However, roughly 20% of affected people have a genetic (inherited) form of the disorder (familial cavernous malformation syndrome). 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. Genetic testing is often recommended for people who have:
Radiation to the brain or spinal cord may also result in CCMs 2 to 20 years afterward. Other rare syndromes may be associated with CCM.
While most CCMs occur with no clear cause, the inherited form of the condition can cause multiple cavernous malformations, both initially and over time.
To date, research has identified three genetic variants responsible for inherited cavernous malformations, to which almost all familial cases of cavernous malformations have been traced.
Familial CCMs are inherited through a mutation in one of these genes:
It isn't fully understood why these mutations lead to CCM. These genes are thought to work together to communicate between cells and reduce leaking from blood vessels.
The most concerning complications of CCMs stem from recurrent bleeding, which may cause a hemorrhagic stroke and lead to progressive neurological damage.
Bleeding is more likely to recur in people with prior diagnosed hemorrhages. They're also more likely to happen again 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. In some cases, specific symptoms may prompt your health care provider to pursue more extensive testing.
Depending on why the condition is suspected, your health care provider may order tests to confirm CCMs or to identify or rule out other related conditions. You may have diagnostic imaging tests (radiology) to identify changes in the blood vessels. Your health care provider may also order tests if you've experienced new symptoms. The tests can determine if there's bleeding or new CCMs.
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:
Several imaging technology areas hold promise for improving predictions of the course of disease in some cases and for enhancing the level of information available about a particular individual's disease state. They include imaging through quantitative susceptibility mapping (QSM) and permeability imaging using dynamic contrast-enhanced MRI.
There are several medications being tested in clinical trials to see if a medication — rather than surgery — could reduce the chance of further bleeding. Talk to your doctor about which clinical trials may be available to you.
See your health care provider if you have any signs or 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 health care provider.
Also, if you've experienced seizures, your doctor 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 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 should be covered during your visit. Here are some examples of good questions to ask your doctor.
Other questions may be useful for your needs. The Angioma Alliance offers an 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 if 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: