Treating Cerebral Cavernous Malformations
The Brain Aneurysm Institute at BIDMC provides expert, multidisciplinary care for patients with cerebral cavernous malformations (CCMs).
At BIDMC’s Brain Aneurysm Institute, we have a team of physicians comprised of Neurosurgeons, Stroke Neurologists, Seizure Neurologists, Neuroradiologists and Geneticists that work together to manage patients with cavernous malformations. Our integrated team provides you with comprehensive care, whether your condition calls for observation, medication or surgery. Our doctors are trained and participate in studies of cerebral cavernous malformations and related conditions to advance the science of care.
Determining the best treatment for people with CCMs requires assessing the risks and benefits of surgery. Due to the large number of people with cavernous malformations we treat each year, our subspecialists in cerebrovascular conditions have detailed, experiential knowledge of the course of the condition over time. BIDMC clinicians have been involved in natural history studies (observation) of the condition. BIDMC also has a strong collaboration with the Angioma Alliance to help in the understanding of the disease and support for patients and their families.
The Brain Aneurysm Institute’s multidisciplinary expertise and depth of experience means that whether your condition calls for observation over time or surgical intervention, physicians and surgeons expert in each phase of diagnosis and treatment work together to bring you the best possible outcomes for your particular needs.
What Are Cerebral Cavernous Malformations?
Cerebral cavernous malformations are groups of tightly packed, abnormal small blood vessels with thin walls that 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. The clusters 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).
Cerebral cavernous malformations can run in families, but often occur on their own. 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 cavernous malformation location within a person's nervous system, CCMs can also cause stroke-like symptoms. Bleeding in the spinal cord can cause difficulty with movement, feeling in the legs and arms, as well as bowel and bladder symptom
Symptoms & Diagnosis
Cerebral cavernous malformations 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 cerebral cavernous malformations 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 and feeling in the legs or arms.
Generally, signs and symptoms of CCMs may include:
- Seizures
- Severe headaches
- Weakness in the arms or legs
- Numbness
- Difficulty speaking
- Problems with memory and attention
- Problems with balance and walking
- Vision changes, such as double vision
Neurological issues can progressively worsen over time with recurrent small bleeding episodes. Repeat bleeding can happen soon after an initial bleed or much later. In other cases, a repeat bleed may never occur.
Cerebral Cavernous Malformation Causes
Most CCMs are known as "sporadic form." They occur as a single formation without an apparent cause or family history. The sporadic form often has an associated developmental venous anomaly (DVA), 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:
- MRI evidence of multiple CCMs without a DVA
- A family history of CCM
Radiation to the brain or spinal cord may also result in CCMs 2 to 20 years afterward. Other rare syndromes may be associated with cerebral cavernous malformations.
CCM Risk Factors
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:
- KRIT1, also called CCM1
- CCM2
- PDCD10, also called CCM3
It isn't fully understood why these mutations lead to cerebral cavernous malformations. These genes are thought to work together to communicate between cells and reduce leaking from blood vessels.
CCM Complications
The most concerning complications of CCMs stem from recurrent bleeding, which may cause a hemorrhagic stroke and lead to progressive neurological damage. Bleeding will more likely recur in people with prior diagnosed hemorrhages. They're also more likely to happen again with malformations located in the brainstem.
Imaging
Typically, cavernous malformations are identified on a CT scan (with a hemorrhage) or an MRI. There is a classic appearance of cavernous malformation with a mixed T1 and T2 lesion.
Location, Travel & Lodging
BIDMC is located in downtown Boston. Our support staff provide information on lodging while in Boston as well as detailed information to help in the process of in-person office visits or treatments. Video and phone consultations for evaluation or follow-up are also available.
