A cavernoma is a malformation of certain blood vessels. The most common case is cerebral cavernoma, or intracranial cavernoma. It usually does not cause any symptoms but can sometimes cause a variety of disorders including headaches, seizures and neurological disorders. Surgery may be considered in the most serious cases.

Definition of cavernoma

A cavernoma, or cavernous angioma, is a vascular malformation occurring mainly in the central nervous system. The latter is made up of the brain, cerebellum and brainstem which extends through the spinal cord into the spine. To ensure the functioning of this system, it is nourished by a network of blood vessels. Sometimes some of these blood vessels have abnormalities. They expand and agglomerate abnormally in the form of small cavities, “caverns” or cavernomas.

Concretely, a cavernoma looks like a ball of small blood vessels. Its general shape can be reminiscent of a raspberry or a blackberry. The size of cavernomas can vary from a few millimeters to a few centimeters.

The medical term “cavernoma” is often associated with cerebral cavernoma which is the most common form. There are a few other special cases such as medullary cavernoma which occurs in the spinal cord, and portal cavernoma which occurs outside the central nervous system.

Causes of cavernoma

The origin of cavernomas is still poorly understood to this day. Some discoveries have nevertheless been made in recent years. For example, research has made it possible to distinguish two forms of cerebral cavernomas:

• the familial form which would be due to a hereditary mutation of three genes (CCM1, CCM2 and CCM3), would represent 20% of cases and would result in the presence of several cavernomas with an increased risk of complications;
• the sporadic form, or not familial, which does not present a familial context and results in a generally single cavernoma.

Cavernoma diagnosis

The presence of a cerebral cavernoma is noted on the results of a magnetic resonance imaging (MRI) examination. The healthcare professional may then order an angiogram to examine the blood vessels and genetic tests to verify a hereditary origin.

The discovery of a cavernoma is often done accidentally because this malformation generally goes unnoticed. In other words, many cases of cavernomas go undiagnosed.

People affected by cavernoma

A cerebral cavernoma can occur in men and women at any age, although it seems to appear most often between the ages of 20 and 40.

The number of cases of cavernoma is difficult to estimate, due to the absence of symptoms in a large majority of cases. According to several studies, cerebral cavernomas concern approximately 0,5% of the general population. They represent between 5% and 10% of cerebral vascular malformations.

In 90% of cases, no symptoms are observed. A cavernoma usually goes unnoticed for life. It is discovered incidentally during a magnetic resonance imaging (MRI) exam.

In other cases, a cerebral cavernoma can manifest itself in particular by:

• epileptic seizures, with a probability between 40 and 70%;
• neurological disorders with a probability between 35 and 50%, which can be in particular dizziness, double vision, sudden loss of vision and disturbances in sensitivity;
• headaches with a probability of 10-30%;
• other manifestations such as the appearance of red spots on the skin.

Bleeding is the main risk of a cavernoma. Most of the time, the bleeding is inside the cavernoma. However, it can also occur outside the cavernoma and cause brain hemorrhage.

Preventive measures

If no symptoms are found and no risk of complications has been identified, only preventive measures are taken. These consist of avoiding shocks to the head and smoothing the blood circulation. Medicines that thin the blood may be prescribed.

Symptomatic treatments

In the event of symptoms, treatments may be offered to relieve them. For example :

• anti-epileptic treatments in case of seizures;
• painkillers for headaches.

Neurosurgery

The only solution to getting rid of a cavernoma is surgery. This major surgical intervention is only considered in the most serious cases.

Radiosurgery

This method of radiotherapy can be considered for very small and / or inoperable cavernomas. It is based on the use of a beam of radiation in the direction of the cavernoma.

The origin of cavernomas is still poorly understood. Many cases are said to have a genetic origin. In fact, no preventive measure could be established.