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Cerebral Cavernous Malformations Increase Seizure Risk

Natan Rosenfeld Natan Rosenfeld September 10, 2021
Medically reviewed by Susan Kerrigan, MD and Marianne Madsen

A recent study published in Neurology found that having an inherited cerebral cavernous malformation (enlarged or irregular blood vessels in the brain) increases an individual’s risk of seizures. 


“Seizures related to a cerebral cavernous malformation (CCM) often begin in childhood, but seizure incidence rates in children with either sporadic or familial forms of CCM are not well described. In familial cases, a greater number of CCMs or genetic variations may influence the likelihood of a seizure or earlier seizure onset,” wrote Christine Fox, MD, MAS, associate professor and director of the Pediatric Stroke and Cerebrovascular Disease Center at the University of California, San Francisco.


The study


Researchers examined 479 children and adults with familial cerebral cavernous malformation (FCCM) between June 2010 and August 2019. Brain MRIs, personal interviews, FCCM genotype analyses, and CCM counts were conducted on the participants.  The aim of these evaluations was to determine their likelihood of having a seizure; specifically, an early seizure onset.


202 of the 479 participants suffered a seizure before or during the course of the study, while 393 were found to have genotype mutations. Of those 393, 88 percent had Common Hispanic Mutations, 5 percent had CCM1 mutations, an additional 5 percent had CCM2 mutations and the remaining 2 percent had CCM3 mutations. All of these mutation types are inherited.


The researchers found that the patients with genotype mutations had a 20.3 percent higher cumulative incidence of childhood seizures, and their risk of having a first seizure increased with age. By the time the average patient age reached 80, their risk for a first seizure was 60.4 percent.


Future best practices


According to the researchers, the individuals with FCCMs also had “more frequent ER visits and hospitalizations,” leading to incessant spending on healthcare over the course of their lifetimes.


Fox and her team noted: “Our study suggests FCCM cases with seizures have more frequent ER visits and hospitalizations, contributing to increased health care costs, compared [with] those without seizures. These data may be particularly important for individuals with FCCM as new treatment strategies become available.”


“Future studies are needed to determine the best practices to reduce the burden of seizures and epilepsy related to FCCM.”

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