Cerebral Cavernous Malformation (CCM) / Cavernoma

A cerebral cavernous malformation (CCM), also known as a cavernoma or cavernous hemangioma, is a malformation of blood vessels in the brain.

A cavernous malformation can also occur in the spinal cord.

The word cerebral means that the vascular malformation is located in the brain. The term cavernous hemangioma is also used for other vascular abnormalities, for example in the liver. These are not the same as a cerebral cavernous malformation.

A cavernoma consists of a cluster of abnormally dilated, thin-walled vascular spaces. The shape resembles a raspberry or a blackberry.

 

A cavernous malformation is not a tumor. The thin vessel walls can leak blood, causing minor hemorrhages. Breakdown products of the blood, including iron-containing hemosiderin, can accumulate in the surrounding brain tissue. Sometimes a cavernoma grows larger. Calcification can also occur.

On this page, we use both the term cavernoma and cavernous malformation.

 

Complaints

The first symptoms often appear between the ages of 20 and 40, but may also occur earlier or later. Some people experience no symptoms at all.

A cavernoma can leak small amounts of blood. Sometimes a larger hemorrhage occurs. This can cause symptoms similar to those of a cerebral hemorrhage.

The nature and severity of the symptoms depend mainly on the location and extent of the hemorrhage. A hemorrhage in the brainstem or thalamus can cause severe neurological symptoms.

Fortunately, a life-threatening cerebral hemorrhage caused by a cavernoma is rare.

 

The symptoms of a cavernous malformation depend on the location in the brain, any hemorrhages, and irritation of the surrounding brain tissue. This irritation can, for example, cause epileptic seizures.

Other symptoms may include:

• Problems with speech and language
• Reduced memory
• Concentration problems
• Headache 
• Double vision and / or blurred vision
• Weakness or tingling in arms and legs
• Balance problems
• Dizziness
• Ringing ears
  
• Neurological deficits, such as paralysis

 

Is a cavernoma hereditary?

Most cavernomas are not hereditary. Sometimes a cavernous malformation occurs in multiple people within the same family. This is called the familial form of CCM.

In this hereditary form, there is usually a change (mutation) in one of three genes: CCM1, CCM2, or CCM3. This change can be passed from parent to child. Each child then has a 50% chance of inheriting the predisposition.

People with the hereditary form often have multiple cavernomas in the brain. Not everyone with this predisposition develops symptoms.

In the United States, the hereditary form occurs relatively more often in people of Mexican descent, especially in certain families.

 

Rare

Cavernous malformations occur in approximately 0.5% of the population. That is an estimated 90,000 people in the Netherlands. About half have no symptoms.

Cavernomas occur equally often in men and women. Usually, it involves a single cavernoma, but some people have multiple of them  in the brain or spinal cord.

Diagnosis

A cavernous malformation is usually not visible during a vascular examination (angiography). This is because the blood flows slowly in the small, abnormal blood vessels. This is different for other vascular abnormalities, such as an aneurysm or an arteriovenous malformation (AVM).

A cavernoma is usually clearly visible on an MRI scan. A dark ring is often seen around the abnormality. This is caused by iron-containing remnants from previous small hemorrhages.

Calcifications are sometimes visible on a CT scan. A cavernoma is also frequently discovered by chance during an MRI scan of the brain.

Dilemma: to operate or not?

A cavernoma can cause bleeding and neurological symptoms. However, surgery also carries risks, including new brain damage.

The location of the cavernoma plays an important role in this. Surgery can be particularly risky if it is deep in the brain or close to important brain functions.

Doctors take into account factors such as previous bleeding, epileptic seizures, age, and the patient's physical and neurological condition.
It always involves a careful weighing of the risks of surgery against the risks of watchful waiting.

 

Incidentally discovered cavernomas

Sometimes a cavernoma is discovered by chance during an MRI scan of the brain.

Not every cavernoma causes symptoms. It is also not always possible to predict whether symptoms will develop later.
For a cavernoma without symptoms, surgery is often not necessary. The doctor assesses whether further monitoring is required.

 

More information

 

• The Toronto Brain Vascular Malformation Study group
• Radiopaedia
• John Hopkins Medicine

 

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