Cerebral Cavernous Malformation (CCM) Care
Expertise in diagnosis and treatment for CCM
Personalized Care from Cerebrovascular Specialists
The Brain Aneurysm Institute at Beth Israel Deaconess Medical Center (BIDMC) provides the latest in research-backed care for cerebral cavernous malformations (CCMs) and other cerebral conditions.
Understanding CCMs
CCMs are clusters of abnormal blood vessels in the brain or spinal cord. The vessels contain slow-moving blood that’s usually clotted.
CCMs vary in size from less than a quarter of an inch up to 4 inches.
CCM Symptoms
In many cases, CCMs do not cause any symptoms and may be found only during imaging for another reason. However, sometimes a CCM can leak blood, leading to a small or large bleed (called a hemorrhage). When bleeding occurs in the brain, it can cause symptoms such as seizures, headaches, weakness, numbness, or problems with balance and vision.
If a CCM is located in the spinal cord, it can lead to additional problems, such as:
- Difficulty with movement or coordination
- Loss of feeling in the legs and arms
- Changes in bowel or bladder control
These symptoms may appear suddenly, especially if there is bleeding, or develop gradually over time. In some people, small bleeds can recur, leading to worsening neurological symptoms. A repeat bleed may happen soon after the first one — or it may never happen at all.
Every person’s experience with CCMs is different. That’s why our team at BIDMC works closely with you to monitor your condition, manage your symptoms, and guide you toward the safest and most effective treatment plan.
CCM Causes
CCMs can run in families, but often occur randomly. Roughly 20% of affected people have a genetic (inherited) form of the disorder. This is called familial cavernous malformation syndrome. In these cases, many can identify similarly affected family members, most often with multiple malformations.
If someone in your family has this syndrome, ask your doctor about whether genetic testing makes sense for you. Generally, doctors recommend genetic testing if you meet these conditions:
- MRI evidence of multiple CCMs
- Family history of CCM
Radiation to the brain or spinal cord also may result in CCMs two to 20 years afterward. Other rare syndromes also can contribute to CCMs.
CCM Complications
The most concerning complications of CCMs are related to recurrent bleeding. This can cause a hemorrhagic stroke and lead to progressive neurological damage. Bleeding will more likely recur in those with prior diagnosed hemorrhages. Bleeding also is more likely to happen again with malformations located in the brainstem.
Diagnosing CCMs
Typically, specialists diagnose neurological problems including CCMs on an MRI or on a CT scan by seeing a hemorrhage.
More About CCM Care
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 several genetic variants responsible for inherited cavernous malformations, to which researchers trace almost all familial cases of CCMs.
Individuals inherit familial CCMs through a mutation in one of these genes:
- KRIT1, or CCM1
- CCM2
- PDCD10, or CCM3
Researchers don’t fully understand why these mutations lead to CCMs, but believe that these genes work together to communicate between cells and reduce leaking from blood vessels.
At BIDMC, experts from multiple specialties come together to provide world-class care for individuals with CCMs. Our multidisciplinary team includes neurosurgeons, stroke neurologists, seizure neurologists, neuroradiologists and geneticists — all working in close collaboration to ensure that every patient receives the most informed and personalized care possible.
Whether your condition calls for careful observation, medical management or surgical treatment, our physicians coordinate seamlessly to deliver comprehensive, patient-centered care.
BIDMC specialists are deeply involved in advancing the science of CCM care through ongoing research and clinical collaboration. Our physicians contribute to natural history studies that help define the course of these conditions over time and maintain a close partnership with the Angioma Alliance to support patients and families while furthering understanding of this complex disease.
Because our clinicians treat a large number of people with cavernous malformations each year, they bring extensive experience and insight into assessing surgical risks and benefits. This depth of expertise means that — from diagnosis through long-term follow-up — you are cared for by a team with detailed knowledge of the condition’s natural progression and the most effective, evidence-based treatments available.
At BIDMC, our integrated, multidisciplinary approach ensures that every decision is guided by collaboration, compassion and the pursuit of the best possible outcome for each individual patient.
Advancing Care, Research & Education
Department of Neurology
The Department of Neurology offers exceptional patient care, education opportunities and research programs.
Neurology Research
Our top-tier research programs and laboratories work to advance the knowledge and treatment of neurological disorders.
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Our team offers comprehensive education and training programs for healthcare professionals, including fellowships and residencies.
