Cerebral Cavernous Malformation (CCM)
CCMs are a group of vascular malformations found in the central nervous system. They may be present at birth, or develop shortly after and grow with the individual. They can be associated with other, visible vascular malformations, which may prompt an evaluation.
Symptoms and History
CCMs may run in families, or a patient may be the first in the family to be diagnosed. CCMs affect 0.5% of the population worldwide. CCMs have a slightly higher incidence in the Hispanic population.
- Intra-cranial Hemorrhage, which can be life threatening
- Other neurologic symptoms
- Visible vascular malformations
- In many cases, CCMs do not cause any symptoms at all
The diagnosis is made using Magnetic Resonance Imaging (MRI) of the brain.
Genetic testing of a patient’s blood may identify changes in the CCM1, CCM2, or CCM3 genes. This testing can be used to identify other family members at risk to develop CCMs.
Based on a patients’ symptoms, doctors may recommend monitoring over time, sclerotherapy or surgical removal of the CCMs.
Enrollment in the national registries and consideration of future research studies is recommended to all identified patients.