Cerebral cavernous malformations (CCM) are a group of malformations that happens in the central nervous system. They may be present at birth or develop shortly after that and grow up with the individual. Hence, they may be associated with other visible vascular malformations.
What Is A Cerebral Cavernous Malformation (CCM)?
Cerebral cavernous malformations (CCM) are abnormally shaped blood vessels. CCM causes complications with the brain or spinal cord. The malformations can range in size from 2 millimeters to several centimeters in diameter. These may be genetic, but most commonly occur independently.
CCMs can leak blood, leading to the brain or spinal cord bleeding (hemorrhage). Brain or spinal hemorrhage may give rise to a wide range of more apparent neurological symptoms. These symptoms rise based on the location of a malformation in a person’s nervous system.
Symptoms Of Cerebral Cavernous Malformations (CCM)
Cerebral cavernous malformations (CCMs) may not show any apparent symptoms. Obvious signs tend to occur when recurrent episodes of bleeding or blood clot forming lead-in:
- Seizures
- Upper lobe CCMs
- Focal or vision disorders with CCMs in the brain
- Basal ganglia,
- Spinal cord
Cerebral Cavernous Malformations (CCM) Signs and Symptoms Can Typically Include:
- Weakness
- Numbness
- Difficulty speaking
- Difficulty understanding others
- Unsteadiness
- Vision changes
- Severe headache
- Seizures can also occur
- Neurological problems can gradually worsen with recurrent bleeding (haemorrhage)
- Repeat bleeding may occur immediately after initial bleeding or much longer. Or repeat bleeding may never occur
- Seizure
- Intracranial Hemorrhage, which may be life-threatening
- Other neurologic symptoms
- Visible vascular malformations
In certain cases, CCMs do not cause symptoms at all.
Cause Of Cerebral Cavernous Malformations (CCM)
Most CCMs occur as a single formation, with no clear cause and no history of the family.
However, nearly 20% of affected individuals have a family (inherited) type of disorder. In certain cases, similarly affected family members may have several malformations. But genetic tests may confirm the diagnosis of the genetic form.
Some CCMs can also occur after focal brain radiation therapy.
Risk Factors Of Cerebral Cavernous Malformations (CCM)
As described above, most CCMs do not have a clear cause. But, the inherited family form of the condition can cause numerous cavernous malformations.
Researchers identified three genetic variations responsible for cavernous genetic malformations. They also identified almost all family cases of cavernous malformations.
Complications Of Cerebral Cavernous Malformations (CCM)
Recurrent bleeding causes the most severe complications of Cerebral cavernous malformations (CCM). This can even lead to progressive neurological damage.
Haemorrhages are most likely to recur in people who have recently been diagnosed with Hemorrhage. They are much more likely to recur with malformations of the brain.
Diagnosis Of Cerebral Cavernous Malformations (CCM)
People with cavernous cerebral malformations (CCMs) often do not show signs or symptoms. But your diagnosis can result from brain imaging for other neurological conditions. Additionally, specific symptoms can prompt the doctor to conduct more extensive tests.
Depending on why the doctor suspects the condition, he can prescribe specific tests. The aim is to confirm CCMs or to diagnose or rule out other related conditions. Brain imaging is often called for, as soon as possible after any potential signs have emerged. However, doctors do it to reveal hemorrhage or any new malformations.
- Magnetic resonance imaging (MRI). This test creates a clear image of the brain or spine. It also shows the blood vessels in the brain. However, sometimes a doctor can inject a contrast dye into a vein in your arm to look at the brain tissue in a slightly different way, or to help look at the blood vessels in your brain (magnetic resonance angiography or magnetic resonance venography).
- Genetic testing. Suppose you have a family history of the disorder. Then genetic counseling and monitoring will help identify changes in genes associated with CCMs.
Treatment Of Cerebral Cavernous Malformations (CCM)
The following specialities work with you to treat CCMs and other neurological disorders:
- Doctors specialized in the brain (neurologists)
- Doctors specialized in nervous system disorders (cerebrovascular neurologists)
- Brain and nervous system surgeons (neurosurgeons)
- Brain imaging professionals (neuroradiologists)
Your Rreatment May Include:
- Observation. If you do not have symptoms, your doctor may initially decide to monitor your malformation. It is because the risk is usually lower for those who are not symptomatic. However, sometimes MRI is recommended to monitor any malformation changes. Hence, let your doctor know of any changes in your symptoms right away.
- Medications. If you have seizures due to cavernous malformation, your doctor might prescribe medication to stop seizures.
- Surgery. Suppose you have symptoms due to a cavernous malformation where you need surgery. Then your doctor can prescribe surgery to remove the malformation.
- If the treatment plan includes surgery, more advanced imaging technologies, including functional MRI and tractography, can also help.
Potential Future Treatments
Some imaging technology areas are promising to enhance disease predictions in certain specific contexts. They also promise to improve the level of information available on the condition of a particular individual. Also, these imaging technologies include:
- Quantitative susceptibility mapping (QSM)
- Permeability imaging using dynamic contrast-enhanced MRI
- The use of alternate contrast MRIs such as ferumoxytol
Nevertheless, these developments promise enhanced images that can provide more realistic and effective clinical treatment in the future. But, they are still under investigation.
Preparing for Your Appointment
What You Can Do:
- Keep a detailed symptoms calendar. Whenever a symptom occurs, write down the moment, what you have experienced, and how long it has lasted.
- Write down key personal information, like any significant stress or recent changes in life
- Make a list of all medicines, vitamins, or supplements that you are taking
- Bring a family member or a friend with you. Sometimes it can be difficult to remember all the details the doctor provides you during the appointment. But bring someone with you because they may remember something you missed or forgot about.
- Bring any new brain scans to your appointment on a CD.
- If you have had seizures, the doctor may want to ask questions about someone who has experienced one. Because it’s common not to be conscious of everything that happens after you experience one.
What To Expect from Your Doctor
Your Doctor Can Also Ask You A Variety Of Questions:
- When did you begin to experience symptoms such as seizures, Hemorrhage or bleeding, fatigue in your arms or legs, vision problems, balance problems, speech problems, memory and concentration issues, headaches, and so on?
- Do the symptoms come and go (intermittent) or are continuous (present all the time)?
- Do you think such events or conditions cause your symptoms?
In The Meantime, What You Can Do
Certain situations and activities can cause seizures so that it may be helpful to:
- Avoid excessive consumption of alcohol
- Avoid nicotine usage
- Get enough sleep
- Reduce stress
