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Image: MRI of a patient with a cavernous hemangioma, showing the location of the hemangioma and the developmental venous anomaly attached to it
Image credit: Courtesy of Issam Awad, MD
A rare brain vascular malformation called a cavernous hemangioma affects more than 1 million Americans with a lifetime risk of stroke and seizures
A sporadic set of genetic mutations makes people more likely to develop the disease, a new study by researchers at the University of Chicago Medicine, Duke University and the University of Pennsylvania finds These lesions, meanwhile, had additional mutations in the same regions that stimulated the growth of the lesions
"We've known for more than 20 years that there is a familial type of cavernous hemangioma that is passed on through generations of genes," said Issam Awad, MD, professor of neurosurgery and chief of neurovascular surgery at the University of Chicago School of Medicine
The new study uncovers a unique combination of mutations that occur during brain development that lead to cavernous hemangiomas
"We've observed before that these lesions often grow near pre-existing abnormal veins," Awad said
The researchers were able to examine the genes of the hemangioma and the DVA associated with it, thanks to delicate surgical methods used to repair bleeding lesions
"This is very novel because we can now explain why DVA forms in the first place," Awad said
Not only does this provide a genetic mechanism for the formation of DVA, but the Chicago research team has also identified a molecule in the circulation that is associated with a key brain mutation
"Right now we can develop blood tests to identify these mutations in the brain, and in the future, we can develop treatments to inhibit the mechanisms that lead to the formation of these lesions," Awad said
The researchers hope to translate these findings into more research and ultimately more treatments for the prevention and cure of cavernous hemangiomas
"Ideally, we'd be able to use a simple blood test to tell if you have a benign venous abnormality, or if there's a seed that's causing the hemangioma to grow," Awad said
"The mechanism is not just about scientific curiosity," he continued
