What is a Cavernoma?
A cavernoma is a vascular malformation, made up of abnormal blood vessels, found mostly in the brain and spinal cord. It is filled with blood that flows slowly through these vessels.
They have thin leaky cell walls. This can sometimes cause blood within the cavernoma to ooze (bleed/leak) outwards into the surrounding tissue or within itself, enlarging the cavernoma. This can cause many symptoms.
Blood may have oozed slowly out of the cavernoma over time or there may have been a haemorrhage (bleed) of a larger amount of blood over a shorter period of time, such as a few days.
Cavernoma can be either symptomatic or asymptomatic.
The genetic(familial) form is recognised as a rare disease.
A cavernoma is not a tumour as it is non-cancerous, does not spread to other parts of the body, is not a solid mass of cells, and is not made of rapidly dividing cells like tumours.
Cavernoma are also known as: Cavernous Angioma, Cavernous Haemangioma or Cerebral Cavernous Malformation(CCM).
Cavernoma Symptoms
Cavernoma causing symptoms are rare.
It is estimated that 1 in 625 people have a asymptomatic cavernoma.
At least 1 in 400,000 people are diagnosed with a symptomatic cavernoma each year.
The type, severity, combination and duration of symptoms may vary, depending on the location of the cavernoma.
Symptoms can include;
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haemorrhage, strokes, seizures, headaches
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tremors, weakness, numbness
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speech and eyesight problems
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fatigue, memory and concentration difficulties
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neurological partial/full paralysis
A cavernoma with no symptoms is referred to as been asymptomatic/incidental finding.
MRI scans are mainly used to diagnose cavernomas.
Sporadic and Genetic Cavernoma
There is sporadic and genetic(familial) cavernoma. The genetic form of cavernoma is recognised as a rare disease.
Sporadic cases are defined by having no family history and no genetic basis for the cavernoma.
Typically, affected individuals have only one cavernoma.
Less than 20% of people with a cavernoma have the genetic form. It is caused by a single gene mutation, or mistake in one of three different genes, CCM1, CCM2, or CCM3.
Once a cavernoma 'has had one haemorrhage, it is at a significantly greater risk of bleeding again.' varies widely and is not predictable.
What do cavernoma look like?
Cavernoma look like a raspberry.
On an MRI scan cavernomas look like a raspberry with a ring around it.
The ring appearance is hemosiderin deposition. Hemosiderin is iron, a byproduct of the breakdown of blood.
This blood has oozed(bleed/leaked) from the cavernoma.
MRI Scan Images with Cavernoma
Brain
Spinal cord