Cerebral Cavernous Malformations

What are cerebral cavernous malformations?

Cerebral cavernous malformations (CCMs) are lesions in the brain that can leak blood into the brain and cause symptoms like seizures, headaches, or back pain. Some people with CCMs never have symptoms. Having more, larger CCMs means the person usually will have more symptoms. 

CCMs can leak blood into the brain, which can cause symptoms including: 

• Seizures
• Headaches
• Back pain
• Hearing or vision changes
• Paralysis

Seizures tend to get worse and happen more often as people with CCMs get older. In rare cases, CCMs bleed into the brain (called a hemorrhage) and cause a stroke that can lead to death. 

CCMs are groups of capillaries (tiny blood vessels) that form irregular lesions that look like raspberries in the brain. The capillaries in a CCM are different from normal capillaries because they have unusually thin, weak walls. They also may be missing important parts—such as elastic fibers, smooth muscle, and tight connections (junctions) between blood vessel cells. These junctions support the capillary walls and keep blood flowing smoothly through the capillaries. 

Cavernous malformations are also called cavernomas or cavernous angiomas and can be found in other parts of the body. “Cerebral” cavernous malformations are found in the brain. Spinal cavernous malformations are in the spinal cord.

Who is more likely to develop cerebral cavernous malformations?

CCMs are rare. They can happen  on their own (sporadic) or run in families (this is called familial CCM). Most people with CCMs have the sporadic type, which means no one else in the family has the disorder.

Familial CCMs happen when there is a variation (also called a mutation) in one of three genes: KRIT1 (CCM1), CCM2, or PDCD10 (CCM3). These genes make proteins that create junctions between blood vessels. When genetic variations affect protein production, cell junctions can weaken and cause CCMs to form.

Familial CCM is inherited in an autosomal dominant pattern. This means a person only needs to inherit one copy of the affected gene from either parent to have the condition.

How are cerebral cavernous malformations diagnosed and treated?

Diagnosing CCMs

To diagnose CCMs, a doctor will first do a physical exam and review the person’s symptoms and medical and family history. Then, they will likely order tests, like an MRI (magnetic resonance imaging), which can capture detailed images and  show CCMs and their location in the brain 

Genetic tests using a blood or saliva sample can help find gene variants and determine if a person has familial CCMs. A genetic counselor can help explain genetic testing and what the test results could mean.

Learn more about neurological diagnostic tests and procedures.

Treating CCMs

There is no standard treatment for CCMs, but medicines can help manage symptoms such as seizures and headaches. 

Surgery to remove the CCM(s) may be necessary if medicines aren’t effective. Surgery always carries risks, which should be considered with the person’s medical team.

Because CCMs can change in size and number over time, people with this disorder usually need lifelong monitoring. Doctors can track CCMs and identify changes over time with regular MRIs.

What are the latest updates on cerebral cavernous malformations?

NINDS, a part of the National Institutes of Health (NIH), is the leading federal funder of research on the brain and nervous system, including disorders such as CCMs. NINDS supports new and innovative research to better understand, diagnose, and treat CCMs. 

NINDS-supported scientists are using established animal models and developing new ones to learn more about the underlying mechanisms of CCM. These models can help determine whether existing medications such as rapamycin—a drug currently used in people who have had an organ transplant—can be used to treat CCM. 

Researchers funded by NINDS also are conducting studies to identify biomarkers for CCMs. Biomarkers are biological signs of disease that can be found and measured. Tests can find biomarkers in a person's blood, through brain scans, or in other ways. This research will provide information for future therapeutic studies and may lead to the development of novel treatments for CCMs.

Other NINDS-supported researchers are studying people with inherited (familial) CCM to better understand how the condition changes over time. These scientists are using genetic, clinical, and imaging data to find biomarkers that show how CCMs develop and progress.

The Brain Vascular Malformation Consortium (BVMC), part of NIH’s Rare Diseases Clinical Research Network, conducts clinical research on brain vascular malformations, including CCM. BVMC consists of academic medical centers, patient support groups, and clinical research resources, and is currently establishing a large group of people with brain vascular malformations who will be followed over time. During this time, BVMC scientists will collect clinical, imaging, biomarker, and laboratory data—as well as biological specimens for use in future clinical research. 

For more information on research about CCM, check NIH RePORTER, a searchable database of current and past research projects funded by NIH and other federal agencies. RePORTER also has links to publications and resources from these projects. 

For research articles and summaries on CCM, search PubMed, which contains citations from medical journals and other sites.

How can I or my loved one help improve care for people with cerebral cavernous malformations?

Consider participating in a clinical trial so clinicians and scientists can learn more about CCM and related disorders. Clinical research with human study participants helps researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of participants are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities. This helps make sure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research, visit the NINDS Clinical Trials site and NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with CCM at ClinicalTrials.gov, a searchable database of current and past clinical studies and research results.