What is a Cavernous Malformation?

Cavernous malformations consist of poorly formed vessels functioning to circulate blood and most often occur in the brain, the brain stem, and rarely in the spinal cord. Cavernous malformations are channels/caverns made up of thin-walled blood vessels that group together forming lobes. These vessels fill with blood that may slowly seep into surrounding tissue. We do not understand how they come about very well, but this leakage of blood from the cavernoma can be significant and cause seizures, hemorrhage, and neurologic deficits.

Do Cavernous Malformation usually have symptoms? How are they diagnosed?

Because these malformations usually show no symptoms, they are most often discovered by accident on an MRI.  These malformations result in weakened cell connectivity in the lining of these blood vessels, and, because of this, all cavernomas, regardless of whether they are symptomatic or asymptomatic, show evidence of micro hemorrhages occurring over time.  Overt hemorrhage is less common, but can have potentially devastating and life-threatening consequences, and is likely to occur in patients with a single cavernous malformation-related hemorrhagic event.

What are the treatment options for a Cavernous Malformation?

Surgery is recommended if the cavernous malformation is symptomatic and in an accessible location.  With surgery, once a cavernous malformation has been removed, the chance of developing anther lesion is rare.  Therefore, cavernous malformations, if removed completely, can be cured. An inaccessible location means that the cavernomas are in areas that are difficult to operate in without giving a patient significant neurological deficits. These locations usually exist within the brain stem and thalamus.  If not operated on, the cavernous malformation is observed closely until seizures become hard to treat, repeat hemorrhage occurs, or worsening neurological symptoms develop.

What is different about a Familial Cavernous Malformation?

This is not the case for a familial cavernous malformation.  A familial form of cavernous malformation often causes multiple lesions/damaged-tissues.  The genetic predisposition to this syndrome is most common in the Hispanic-American population.  Approximately 50% of Hispanic-Americans with a cavernous malformation have a familial form, compared with 10 to 20% of white (Caucasian) patients with a cavernous malformation.

What are the risk factors of Cavernous Malformations?

The most common predictor of future hemorrhage is previous hemorrhage.  There is debate about some other risk factors.  Traditionally, pregnancy,  medications, like aspirin or warfarin prescribed to prevent heart attack, and stroke have been considered risk factors for hemorrhage in patients with cavernous malformation.