A cavernoma (or cavernous malformation) is a collection of abnormal, thin-walled blood vessels, filled with slow-flowing blood. Common locations of a cavernoma are in the brain and spinal cord.
There is often a Developmental Venous Anomaly (DVA) in association with a cavernoma. A DVA represents a variant on normal venous drainage and is benign.
The majority of cavernomas are sporadic. Approximately one fifth of patients with a cavernoma have a family history of the disease where cavernomas are often multiple.
Cavernomas can bleed, causing a stroke or death. In general, the haemorrhage from a cavernoma is relatively small because of the slow flow of blood within the lesion. It’s estimated that the risk of bleeding from a cavernoma is between 1-2 % per year. Cavernomas may also cause seizures or may remain asymptomatic.
Often patients don’t have any symptoms of cerebral cavernous malformation (CCM). The doctor sometimes performs brain imaging to diagnose other neurological deficits and ends up diagnosing CCM. Sometimes specific symptoms may prompt a doctor to pursue more extensive testing to confirm cavernoma. A doctor may ask for the below-mentioned tests for diagnosing CCM.
In this test, a detailed picture of the brain or spine is taken. The blood vessel in the brain is imaged as well. To better look out at the blood vessel in the brain, the doctor may inject the contrast die into the vein in the arm.
If a patient has a genetic history, then genetic counselling and tests are helpful to identify changes associated with CCM in genes and chromosomes.
The symptoms are related to the location of the lesion and the extent of bleed:
In general, asymptomatic cavernomas discovered incidentally do not require treatment. If cavernomas cause seizures the patient is managed with anti-epileptic medications.
Surgery becomes an option if the seizures are not controlled with anti-epileptics. Or, if the cavernoma causes asymptomatic haemorrhage.
Surgically removing cavernoma can be risky if the cavernoma is located in the eloquent brain. The risk of surgery as well as the lifetime risk of stroke or death, if the lesion is not removed, must be taken into consideration.
In most cases, there is no certain reason why cavernoma develops in a person. Many of the cases have genetic associations. A person can go for genetic testing to check whether cavernoma is a result of genetics or not. If one of the parents has a cavernoma, then there is a 50% chance that the child will develop the same. Radiation exposure is also linked to cavernoma especially in a child.