Just heard a friend or family member has a cavernous malformation? Looking for fast facts about your new diagnosis? You are in the right place. Read on for the basics on cavernous malformation.
- What is it?
- How does it cause health problems?
- Who has it?
- What are the symptoms?
- How do I get a diagnosis?
- Is there a treatment?
- Where can I find more information?
What is it?
A Cavernous Malformation is what doctors call a bundle of unusually small, leaky blood vessels. Cavernous Malformation Canada likens the appearance to that of a raspberry. It will usually be found in your brain.
Other names you might hear it called: cavernous angioma, cavernoma, CCM.
How does it cause health problems?
The combination of very small, fragile blood vessels and their leaky nature force your blood to travel very slowly through the malformation. You could think of it like a traffic pinch point, causing blood to be late to its appointment with vital parts of the brain. The leaky vessels also cause blood to seep out into the space between cells in the brain where over time it can cause a build-up in pressure.
Fragile blood vessels have a higher risk of breaking, leading to brain haemorrhage.
Who has it?
Cavernous Malformation is a rare disorder. Doctors say that around 1/500 people might have one somewhere in their brain. It affects all sexes equally and can form in people of any age.
Cavernous malformation can happen spontaneously, we don’t know why it happens. However, in 20% of people who have one, it is genetic. They inherited the condition from their parents. The gene variant that causes CCM is dominant, so only one copy is needed. This means that if you have a CCM causing gene, your children will each have a 50% chance of inheriting it. On the other hand, this means it doesn’t skip generations, so there is less uncertainty involved.
What are the symptoms?
On its own, the cavernous malformation might not cause any problems at all. Most people will live their lives never knowing they have a cavernous malformation. However some people might experience symptoms including:
- Seizures
- Headaches
Depending on where in your brain the CCM is located, you might experience different symptoms, for example:
- attention, memory, social skills, mood, and learning problems.
- weakness or numbness in the arms or legs, ataxia, facial paralysis.
- vision problems
- hearing problems
- spasms of the diaphragm
- fatigue
How do I get a diagnosis?
Cavernous malformations are often found by accident when doctors are looking for something else.
Is there a treatment?
There is no cure for CCM. You can, however, treat the symptoms by working with doctors specializing in your complaints.
In some cases extreme cases, a patient might need to have brain surgery and there are drugs in development that doctors hope might help.
Where can I find more information?
Visit https://www.alliancetocure.org/ or https://cavernousmalformation.ca/ to get patient informed information about diagnosis, treatment and living your best life.
