A cavernoma is an unusual cluster of blood vessels in the brain or spinal cord. Few people have heard of this serious medical condition, which can strike people of any age and has a strong genetic component.
What do you need to know about cavernomas?
What Is a Cavernoma?
A cavernoma, also called a cerebral cavernous malformation (CCM) or cavernous hemangioma, is a cluster of abnormally-formed small blood vessels within the brain or spinal cord. Cavernomas have unusually thin walls, from which blood can periodically leak.
Cavernomas have unusual shapes that are most often compared to raspberries, resulting from the manner in which the small blood vessels clump together. These formations range from no more than a few millimeters to as large as several centimeters in diameter.
A cavernoma is not cancerous.
These unusual clusters of blood vessels can, however, cause serious complications — and although around one in every 600 people will develop a cavernoma over the course of their lifetime, very little is known about this medical condition at present. It is clear that genetic factors play an important role in the development of cavernomas (40 to 60 percent of all cases occur in people who have already had cavernomas in the family), but the precise cause has not been discovered yet.
What's more, doctors do not know what can be done to prevent cavernomas or to stop them from growing bigger once they form yet.
A cavernoma can grow, shrink, or even disappear over time. It is also possible for new cavernomas to arise.
What Symptoms Are Associated with Cavernomas?
Most patients who live with a cavernoma will not have noticeable symptoms. Even those who don't currently experience symptoms may develop them at any time, however, something that typically happens when the abnormal cluster of blood vessels expands in size, or when internal bleeding (hemorrhage) occurs as a result of the fragility of the vessel walls.
The most common symptoms associated with a cavernoma include:
- Seizures. These disruptions in brain activity can lead to uncontrolled body movements, "staring into space", confusion, and temporary loss of consciousness. Half of all patients with symptomatic cavernomas experience seizures.
- Frequent headaches.
- Neurological disturbances that may include dizzy spells, double vision and other visual disturbances, slurred speech, and mobility challenges. The nature of the neurological symptoms a patient may experience depends on the precise location, as well as the size, of the cavernoma. These problems are present in a quarter of patients with symptomatic cavernomas.
- Persistent feelings of weakness and fatigue.
- Memory problems and difficulty focusing.
- The most serious symptom (or complication) of a cavernoma is a hemorrhagic stroke, a type of stroke in which blood builds up in the brain. This type of stroke can cause a severe headache, loss of consciousness, an inability to move certain parts of the body, nausea and vomiting, extreme light sensitivity, muscle pain, seizures, and vision problems, among other symptoms.
How Are Cavernomas Diagnosed?
The fact that cavernomas are usually small clusters of capillaries, which are the smallest blood vessels we have, makes finding them a challenge. An MRI scan is the best diagnostic test currently available for the diagnosis of cavernomas, but CT scans are also sometimes used.
Because cavernomas are fairly rare, and symptoms are even rarer, it is very rare for doctors to specifically look for a cavernoma based on symptoms a patient is having. A cavernoma is more likely to be discovered by chance, when a patient has an MRI scan for another reason.
How Are Cavernomas Treated?
Not all cavernomas require active treatment. Small cavernomas will, once found, likely simply be minitored periodically over time, and patients are invited to report new symptoms to their health care providers right away.
Treatment is necessary in some cases, however, and the best approach depend on factors that include the location and size of the cavernoma. Some people have multiple cavernomas, and this is also taken into account when deciding the best way forward.
Medications can be offered to target specific symptoms that patients with a cavernoma may have, such as frequent headaches and seizures. In many cases, this can increase the patient's quality of life very significantly.
Surgery is only considered in cases where the benefits are deemed to outweigh the real risks. There are two approaches when it comes to surgery for cavernoma. Surgeons can physically remove the cavernoma, or radiosurgery may be used to thicken the cluster of blood vessels to the point where hemorrhage becomes less likely.
Even after surgery, it remains necessary to monitor the patient closely, as new cavernomas may form over time.
People diagnosed with a cavernoma, and their families, will come up against many unanswered questions. They are not alone in this, and the medical community is currently exploring new treatment options. Patients living with a cavernoma may be able to enroll in a clinical trial that allows them to benefit from experimental treatment. Several drugs are currently being tested, including beta blockers. Even vitamin supplements, such as vitamin D3, may play a role in managing cavernomas.
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