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Cerebral angioma (Cavernoma)

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Cerebral angiomas are blood vessel abnormalities comprised of clusters of abnormally dilated blood vessels.

  • They can be singular or multiple, and are found in the brain, spinal cord, and rarely, in other areas of the body including the skin and retina.
  • They are also known as:
    • cavernous angioma
    • cavernous hemangioma
    • cavernous venous malformation
  • Up to 40% of solitary cerebral angiomas co-occur with another vascular abnormality, known as a developmental venous anomaly. Cerebral angiomas can continue to form with age, therefore the incidence and number per person increases with age.
  • The blood flow through these vessels is slow.
  • A typical cavernoma looks like a raspberry. It's filled with blood that flows slowly through vessels that are like "caverns". These can range in size from microscopic up to several inches in diameter.

Symptoms of cavernoma

  • About 11 percent of lesions are not symptomatic. Leakage and bleeding from cavernomas is the underlying cause of clinical symptoms.
  • The severity and duration of symptoms can vary depending on the type of cavernoma and where it's located.
  • Problems can occur if the cavernoma bleeds or presses on certain areas of the brain.
    • Bleeding (hemorrhage) or compression of surrounding brain tissue, called mass effect. Mass effect can cause weakness, numbness, double vision, visual disturbance or language difficulties; seizures (fits); sudden, severe headaches; neurological problems, such as dizziness, slurred speech; dysarthria, balance problems & tremors; weakness, numbness, tiredness, memory problems & difficulty concentrating; a type of stroke (hemorrhagic stroke)
  • The cells lining a cavernoma are often thinner than those that line normal blood vessels, which means they're prone to leaking blood.
  • In most cases, bleeding is small – usually around half a teaspoonful of blood – and may not cause other symptoms.
  • Severe hemorrhages can be life threatening and may lead to long-lasting problems.

Causes

  • In most cases, there's no clear reason why a person develops a cavernoma. The condition can sometimes run in families – less than 50% of cases are thought to be genetic.
  • But in most cases cavernomas occur randomly. Genetic testing can be carried out to determine whether a cavernoma is genetic or whether it's occurred randomly.
  • Some people have more than one cavernous angioma.
    • Most commonly, people with more than one cavernous angioma have a hereditary form of the illness. People with the genetic form of the illness typically develop additional cavernous angiomas over time.
    • Some people may have a second kind of abnormal blood vessel called a developmental venous anomaly (DVA), also called a venous malformation or venous angioma. This dilated blood vessel only rarely causes symptoms on its own. However, it may create conditions that make it more likely for cavernous angiomas to form. This is not hereditary.
    • Brain or spinal radiation for cancer treatment can cause cavernous angiomas to form many years later. In people with the hereditary form, radiosurgery to treat a cavernous angioma may also cause more lesions to form.

Diagnosis

  • Magnetic resonance imaging (MRI) is the most sensitive test for identifying cavernous angioma lesions. MRI scans often show small areas of new or old hemorrhages as a rim around the cavernous angioma. These lesions are not visible in cerebral angiography.
    • All cavernous angiomas have some chronic oozing of blood in the area of the lesion. This is what gives their typical appearance on MRI. Oozing is different from the more significant “overt” hemorrhage or bleed. An overt hemorrhage is new bleeding in or around the cavernous angioma and is often associated with new symptoms.
  • There are three known genes that, when mutated, can cause a hereditary form of the illness. Researchers have named them CCM1, CCM2, and CCM3. In the United States, individuals who trace their ancestry to the original settlers of New Mexico and Chihuahua, Mexico have passed a specific mutation of the CCM1 gene down from generation to generation since at least the early 1600s. However, you do not need to be Hispanic to have the hereditary form of the illness. Hereditary forms of cavernous angioma exist in every ethnic group everywhere in the world.

Outcome

  • The consequences of a hemorrhage from a cavernous angioma are rarely catastrophic, in contrast with arteriovenous malformations (AVM) or aneurysms
  • The risk of having a hemorrhage varies from person to person, depending on whether you have experienced any bleeding before.
  • If you have not had any bleeding before, it's estimated you have a less than 1% chance of experiencing a hemorrhage each year.
  • Approximately one in 200 people have a cavernoma.
  • If your cavernoma has bled previously, your risk of having another hemorrhage is somewhere between 4% and 25% each year.
  • But this risk decreases progressively over time if you do not experience any further bleeds, and eventually returns to the same level as that of people who have not had any bleeding before.
  • Some cavernous angiomas bleed slowly enough that the body can re-absorb the blood. Others bleed more profusely and can put dangerous pressure on the surrounding brain tissue and/or cause an obvious hemorrhage.
  • If your cavernous angioma has bled once, it is likely to bleed again, generally within two years of the first bleed.
  • Your level of risk will be one of the main factors taken into consideration when deciding if you would benefit from treatment.
  • Depending on the size and location of the cavernoma, this bleeding can cause brain damage and even in rare cases death, however, bleeding from cavernomas is often less severe than bleeding from aneurysms or AVMs because they do not contain high-pressure arterial blood flow.

Statistics==

  • The disease occurs in 0.4 percent of the population, and 18.7 percent of these patients have multiple lesions.
  • It's estimated about 1 in every 600 people in the UK has a cavernoma that does not cause symptoms.
  • Every year, around 1 person in every 400,000 in the UK is diagnosed with a cavernoma that has caused symptoms.
  • If symptoms do occur, most people will develop them by the time they reach their 30s.
  • Roughly 20 percent of affected people have a familial (inherited) form of the disorder. In many cases, such people can identify similarly affected family members, most often with multiple malformations. A diagnosis of the inherited form can be confirmed by genetic testing.

Resources & additional reading

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